Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or internal globus pall... more Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or internal globus pallidus (GPi) represents an effective and universally applied therapy for Parkinson's disease (PD) motor complications. However, certain procedure-related problems and unrealistic patient expectations may detract specialists from indicating DBS more widely despite significant clinical effects. Methods: This review provides a pragmatic educational summary of the most conflicting postoperative management issues in patients undergoing DBS for PD. Results: DBS in PD has been associated with certain complications and post-procedural management issues, which can complicate surgical outcome interpretation. Many PD patients consider DBS outcomes negative due to unfulfilled expectations, even when significant motor symptom improvement is achieved. Speech, gait, postural stability, and cognition may worsen after DBS and body weight may increase. Although DBS may induce impulse control disorders in some cases, in others, it may actually improve them when dopamine agonist dosage is reduced after surgery. However, apathy may also arise, especially when dopaminergic medication tapering is rapid. Gradual loss of response with time suggests disease progression, rather than the wearing off of DBS effects. Furthermore, implantable pulse generator expiration is considered a movement disorder emergency, as it may worsen parkinsonian symptoms or cause life-threatening akinetic crises due to malignant DBS withdrawal syndrome. Conclusion: Major unsolved issues occurring after DBS therapy preclude complete patient satisfaction. Multidisciplinary management at experienced centers, as well as careful and comprehensive delivery of information to patients, should contribute to make DBS outcome expectations more realistic and allow post procedural complications to be better accepted.
Neurological features in celiac disease (CD) are not rare (5%-36%), but tremor is scarcely descri... more Neurological features in celiac disease (CD) are not rare (5%-36%), but tremor is scarcely described. Subjects with CD and healthy controls completed an online survey using WHIGET tremor rating scale. One thousand five hundred and twelve subjects completed the survey, finally 674 CD patients and 290 healthy subjects were included. A higher prevalence of tremor in CD patients was observed in comparison to controls (28% vs 14%, P < 0.001). Frequency of family history of tremor in CD patients with and without tremor was 25% and 20% (P = 0.2), while in the control group it was 41% and 10% (P < 0.001). Controls with tremor showed a higher frequency of family history of tremor when compared to CD patients with tremor (41.5% vs 24.6%, P = 0.03). The results suggested that tremor in CD might be more frequent and possibly related to the disease itself and not due to associated essential tremor. Core tip: We performed an online inquest, completed by 1512 subjects, 674 had celiac disease and 290 controls. We observed a higher (double) prevalence of tremor in celiac patients in comparison to healthy controls (28% vs 14%, P < 0.001). The frequency of a family history of tremor was higher in controls with tremor, but not in Celiac disease (CD) patients with tremor, suggesting that tremor in CD might be more frequent than controls and possibly related to the disease process itself and not due to essential tremor.
Weight lossisa multifactorial disorder commonly affecting Parkinson's disease patients. The aim o... more Weight lossisa multifactorial disorder commonly affecting Parkinson's disease patients. The aim of this study was to investigate the relationship between body weight, nutritional status, physical activity, and Parkinson's disease-related factors. A total of 114 consecutive Parkinson's disease patients without dietary restrictions were evaluated prospectively with respect to: nutritional status (Mini Nutritional Assessment), physical activity level (Yale Physical Activity Survey), MDS-UPDRS score, olfactory function, depression, cognitive functionand impulse-control disorders, among other variables. Structural equation modeling was used to build multivariate models and to calculate standardized regression weights (srw) for pairs of variables, which are homologous to correlation coefficients, taking into account the effects of all other variables in the model. Sixty (53%) patients were males. Mean age was 66.1 ± 9.8 years and mean disease duration was 8.3 ± 5.6 years. Longer disease duration was negatively related to nutritional status (srw = −0.25; p = 0.01). UPDRS II + III score was associated with reduced cognitive function (srw = −0.39; p = 0.01), which was positivelyrelated to nutritional status (srw = 0.23; p = 0.01). Finally, nutritional status was positively related to body weight (srw = 0.22, p < 0.01). Binge eating and physical activity were also directly and positively related to body weight (srw = 0.32; p = 0.001 and srw = 0.23; p = 0.001). Nutritional status, binge eating and physical activity were directly and independently related to body weight in our sample of Parkinson's disease patients. Therefore, physicians should actively explore nutritional status and binge eating in Parkinson's disease patients to avoid alterations in body weight regulation. Effects of physical activity should be further explored.
Background: The diagnosis of Parkinson's disease (PD) can be challenging early in the disease cou... more Background: The diagnosis of Parkinson's disease (PD) can be challenging early in the disease course, when motor features are subtle. The objective of this study was to explore the diagnostic value of combining acute levodopa challenge and olfactory testing to predict PD. Methods: Data from 210 patients with a recent onset of parkinsonism who had at least 2 years of follow-up and underwent acute levodopa challenge for the clinical prediction of long-term dopaminergic response and had olfactory testing with Sniffin' Sticks Test were evaluated. Single and combined diagnostic measures were analyzed. Results: After 2 years of follow-up, a PD diagnosis was confirmed in 157 patients who fulfilled United Kingdom Parkinson's Disease Society Brain Bank criteria and was ruled out in 53. Sensitivity and specificity of acute levodopa challenge to predict PD diagnosis were 0.71 and 0.94, respectively. Sensitivity and specificity of olfactory tests were calculated according to the total olfactory score for hyposmia (0.61 and 0.77 respectively), the hyposmia identification subscore (0.63 and 0.74, respectively), and the anosmia score (0.40 and 0.85, respectively). The best combination identified was response to acute levodopa challenge together with hyposmia according to the total olfactory score (sensitivity, 0.90; specificity, 0.74; positive predictive value, 0.91; negative predictive value, 0.72; accuracy, 0.86). Conclusion: The combination of response to acute levodopa challenge with hyposmia according to the total olfactory score improved sensitivity for the early diagnosis of PD.
Objective: To determine the utility of an electronic diary for registering motor fluctuations and... more Objective: To determine the utility of an electronic diary for registering motor fluctuations and dyskinesia in Parkinson disease (PD). Methods: Free, open-access touch screen software suitable for Android 4.4 or higher, with medication alarms, adjustable intervals, and medication dose settings was developed to evaluate ON-OFF periods and dyskinesia. Prospective evaluation included a first phase conducted to make adjustments concerning motor limitations when using the tablet, as well as for proper motor complication identification, and a second phase of 3 days of use at home with a prior diary training session comparing a modified paper version of Core Assessment Program for Surgical Interventional Therapies in PD and the electronic diary. Results: All patients correctly identified ON-OFF periods and dyskinesia. Rater/patient matching ON-OFF fluctuations ranged between 94% and 100% for evaluations of different motor states. Dyskinesia matching percentage was 100% for patients with dyskinesia interfering with activities of daily living and 88% for those who reported no-interference. No significant differences between paper and electronic diaries were identified when reporting ON-OFF motor states or in the number of errors when filling the diaries. Conclusions: This electronic motor diary proved to be reliable for ON-OFF state and dyskinesia identification and classification. However, no advantage to paper diary has been observed in terms of number of erroneous entries. Based on these results, to improve home motor fluctuations, detection efforts should be directed toward the development of automatic wearable devices rather than digital versions of current available ON-OFF diaries.
BACKGROUND AND PURPOSE:
To assess, through systematic review, distinctive or common clinical sig... more BACKGROUND AND PURPOSE:
To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature.
METHODS:
This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure.
RESULTS:
In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features.
CONCLUSIONS:
Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified
... more Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified
according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the
most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement
disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic
databases up to January 2013. Publications containing descriptions of ADCA clinical features written
in several languages were selected initially based on title and abstract screening, followed by full-text
reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed
patients were extracted. Analysis of individual patient data from subjects with movement disorders was
performed using the chi-square test and logistic regression. One thousand and sixty-six publications
reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755
patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom
onset symptom data were available, one third referred a movement disorder as the initial symptom. During
overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the
absence of ataxia and characterized as responding to dopaminergic medications. Motor complications
developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features
were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic
dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of
movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and
dystonia were the most common.
Olfactory function assessment is an important screening tool and also may differentiate Parkinson... more Olfactory function assessment is an important screening tool and also may differentiate Parkinson&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (PD) patients from other parkinsonisms, including nondegenerative ones, such as, normal pressure hydrocephalus, vascular, drug induced, or infectious parkinsonism. Several authors in different countries have reported various sets of odors that best differentiate between these conditions. It is debated if distinctive patterns of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;restrictive&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; or &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;selective&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; hyposmia in PD may be affected by cultural aspects. To compare the olfactory identification function in PD across different countries, we analyzed Sniffin&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; Sticks identification task results between 112 PD patients from Argentina and previously reported data of PD patients from Brazil (106 patients), the Netherlands (400 patients), Germany (40 patients), China (110 patients), and Sri Lanka (89 patients). Categorical principal component analysis (CATPCA) was performed to find components reflecting groups of odors similarly perceived across subjects. CATPCA analysis found 2 components for each group which shared 10 out of 16 odors amongst each other. We found that only the shared items of component 2 (orange, mint, banana, garlic, coffee, cloves, and fish) showed uniform results across all of the included countries, whereas variations in component 1 (licorice, turpentine, and apple) were attributed mostly to differences across control groups.
Nonmotor symptoms (NMS) like neuropsychiatric symptoms, sleep disturbances or autonomic symptoms ... more Nonmotor symptoms (NMS) like neuropsychiatric symptoms, sleep disturbances or autonomic symptoms are a common feature of Parkinson's disease (PD). To explore the existence of groups of NMS and to relate them to PD characteristics, 71 idiopathic non-demented PD out-patients were recruited. Sleep was evaluated by the PD Sleep Scale (PDSS). Several neuropsychiatric, gastrointestinal and urogenital symptoms were obtained from the NMSQuest. Sialorrhea or dysphagia severity was obtained from the Unified PD Rating Scale activities of daily living section. MADRS depression scale was also administered. Exploratory factor analysis revealed the presence of 5 factors, explaining 70% of variance. The first factor included PDSS measurement of sleep quality, nocturnal restlessness, off-related problems and daytime somnolence; the second factor included nocturia (PDSS) and nocturnal activity; the third one included gastrointestinal and genitourinary symptoms; the forth one included nocturnal ps...
Pathological gambling (PG) in Parkinson&#39;s disease (PD) is a frequent impulse control diso... more Pathological gambling (PG) in Parkinson&#39;s disease (PD) is a frequent impulse control disorder associated mainly with dopamine replacement therapy. As impairments in decision-making were described independently in PG and PD, the objective of this study was to assess decision-making processes in PD patients with and without PG. Seven PD patients with PG and 13 age, sex, education and disease severity matched PD patients without gambling behavior were enrolled in the study. All patients were assessed with a comprehensive neuropsychiatric and cognitive evaluation, including tasks used to assess decision-making abilities under ambiguous or risky situations, like the Iowa Gambling Task (IGT), the Game of Dice Task and the Investment Task. Compared to PD patients without gambling behavior, those with PG obtained poorer scores in the IGT and in a rating scale of social behavior, but not in other decision-making and cognitive tasks. Low performance in decision-making under ambiguity and abnormal social behavior distinguished PD patients with PG from those without this disorder. Dopamine replacement therapy may induce dysfunction of the ventromedial prefrontal cortex and amygdala-ventral striatum system, thus increasing the risk for developing PG.
Fluctuation is a common feature of all psychogenic gait disorder (PGD) patterns. Whether this flu... more Fluctuation is a common feature of all psychogenic gait disorder (PGD) patterns. Whether this fluctuation involves only the degree of impairment or whether it affects the gait pattern itself remains an interesting question. We hypothesize that, on repeated measurements, both normal and abnormal gait may present quantitative differences while maintaining their basic underlying pattern; conversely, in psychogenic gait, the basic pattern appears not to be preserved. Using an optoelectronic system, data acquired from 19 normal subjects and 66 patients were applied to train a neural network (NN) and subsequently classify gait patterns into four different groups (normal, ataxic, spastic-paraparetic and parkinsonian). Five patients who fulfilled clinical criteria for psychogenic gait and six controls were then prospectively evaluated on two separate occasions, three months apart. Normal controls and ataxic, parkinsonian or spastic patients were correctly identified by the NN, and categoriz...
Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or internal globus pall... more Background: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or internal globus pallidus (GPi) represents an effective and universally applied therapy for Parkinson's disease (PD) motor complications. However, certain procedure-related problems and unrealistic patient expectations may detract specialists from indicating DBS more widely despite significant clinical effects. Methods: This review provides a pragmatic educational summary of the most conflicting postoperative management issues in patients undergoing DBS for PD. Results: DBS in PD has been associated with certain complications and post-procedural management issues, which can complicate surgical outcome interpretation. Many PD patients consider DBS outcomes negative due to unfulfilled expectations, even when significant motor symptom improvement is achieved. Speech, gait, postural stability, and cognition may worsen after DBS and body weight may increase. Although DBS may induce impulse control disorders in some cases, in others, it may actually improve them when dopamine agonist dosage is reduced after surgery. However, apathy may also arise, especially when dopaminergic medication tapering is rapid. Gradual loss of response with time suggests disease progression, rather than the wearing off of DBS effects. Furthermore, implantable pulse generator expiration is considered a movement disorder emergency, as it may worsen parkinsonian symptoms or cause life-threatening akinetic crises due to malignant DBS withdrawal syndrome. Conclusion: Major unsolved issues occurring after DBS therapy preclude complete patient satisfaction. Multidisciplinary management at experienced centers, as well as careful and comprehensive delivery of information to patients, should contribute to make DBS outcome expectations more realistic and allow post procedural complications to be better accepted.
Neurological features in celiac disease (CD) are not rare (5%-36%), but tremor is scarcely descri... more Neurological features in celiac disease (CD) are not rare (5%-36%), but tremor is scarcely described. Subjects with CD and healthy controls completed an online survey using WHIGET tremor rating scale. One thousand five hundred and twelve subjects completed the survey, finally 674 CD patients and 290 healthy subjects were included. A higher prevalence of tremor in CD patients was observed in comparison to controls (28% vs 14%, P < 0.001). Frequency of family history of tremor in CD patients with and without tremor was 25% and 20% (P = 0.2), while in the control group it was 41% and 10% (P < 0.001). Controls with tremor showed a higher frequency of family history of tremor when compared to CD patients with tremor (41.5% vs 24.6%, P = 0.03). The results suggested that tremor in CD might be more frequent and possibly related to the disease itself and not due to associated essential tremor. Core tip: We performed an online inquest, completed by 1512 subjects, 674 had celiac disease and 290 controls. We observed a higher (double) prevalence of tremor in celiac patients in comparison to healthy controls (28% vs 14%, P < 0.001). The frequency of a family history of tremor was higher in controls with tremor, but not in Celiac disease (CD) patients with tremor, suggesting that tremor in CD might be more frequent than controls and possibly related to the disease process itself and not due to essential tremor.
Weight lossisa multifactorial disorder commonly affecting Parkinson's disease patients. The aim o... more Weight lossisa multifactorial disorder commonly affecting Parkinson's disease patients. The aim of this study was to investigate the relationship between body weight, nutritional status, physical activity, and Parkinson's disease-related factors. A total of 114 consecutive Parkinson's disease patients without dietary restrictions were evaluated prospectively with respect to: nutritional status (Mini Nutritional Assessment), physical activity level (Yale Physical Activity Survey), MDS-UPDRS score, olfactory function, depression, cognitive functionand impulse-control disorders, among other variables. Structural equation modeling was used to build multivariate models and to calculate standardized regression weights (srw) for pairs of variables, which are homologous to correlation coefficients, taking into account the effects of all other variables in the model. Sixty (53%) patients were males. Mean age was 66.1 ± 9.8 years and mean disease duration was 8.3 ± 5.6 years. Longer disease duration was negatively related to nutritional status (srw = −0.25; p = 0.01). UPDRS II + III score was associated with reduced cognitive function (srw = −0.39; p = 0.01), which was positivelyrelated to nutritional status (srw = 0.23; p = 0.01). Finally, nutritional status was positively related to body weight (srw = 0.22, p < 0.01). Binge eating and physical activity were also directly and positively related to body weight (srw = 0.32; p = 0.001 and srw = 0.23; p = 0.001). Nutritional status, binge eating and physical activity were directly and independently related to body weight in our sample of Parkinson's disease patients. Therefore, physicians should actively explore nutritional status and binge eating in Parkinson's disease patients to avoid alterations in body weight regulation. Effects of physical activity should be further explored.
Background: The diagnosis of Parkinson's disease (PD) can be challenging early in the disease cou... more Background: The diagnosis of Parkinson's disease (PD) can be challenging early in the disease course, when motor features are subtle. The objective of this study was to explore the diagnostic value of combining acute levodopa challenge and olfactory testing to predict PD. Methods: Data from 210 patients with a recent onset of parkinsonism who had at least 2 years of follow-up and underwent acute levodopa challenge for the clinical prediction of long-term dopaminergic response and had olfactory testing with Sniffin' Sticks Test were evaluated. Single and combined diagnostic measures were analyzed. Results: After 2 years of follow-up, a PD diagnosis was confirmed in 157 patients who fulfilled United Kingdom Parkinson's Disease Society Brain Bank criteria and was ruled out in 53. Sensitivity and specificity of acute levodopa challenge to predict PD diagnosis were 0.71 and 0.94, respectively. Sensitivity and specificity of olfactory tests were calculated according to the total olfactory score for hyposmia (0.61 and 0.77 respectively), the hyposmia identification subscore (0.63 and 0.74, respectively), and the anosmia score (0.40 and 0.85, respectively). The best combination identified was response to acute levodopa challenge together with hyposmia according to the total olfactory score (sensitivity, 0.90; specificity, 0.74; positive predictive value, 0.91; negative predictive value, 0.72; accuracy, 0.86). Conclusion: The combination of response to acute levodopa challenge with hyposmia according to the total olfactory score improved sensitivity for the early diagnosis of PD.
Objective: To determine the utility of an electronic diary for registering motor fluctuations and... more Objective: To determine the utility of an electronic diary for registering motor fluctuations and dyskinesia in Parkinson disease (PD). Methods: Free, open-access touch screen software suitable for Android 4.4 or higher, with medication alarms, adjustable intervals, and medication dose settings was developed to evaluate ON-OFF periods and dyskinesia. Prospective evaluation included a first phase conducted to make adjustments concerning motor limitations when using the tablet, as well as for proper motor complication identification, and a second phase of 3 days of use at home with a prior diary training session comparing a modified paper version of Core Assessment Program for Surgical Interventional Therapies in PD and the electronic diary. Results: All patients correctly identified ON-OFF periods and dyskinesia. Rater/patient matching ON-OFF fluctuations ranged between 94% and 100% for evaluations of different motor states. Dyskinesia matching percentage was 100% for patients with dyskinesia interfering with activities of daily living and 88% for those who reported no-interference. No significant differences between paper and electronic diaries were identified when reporting ON-OFF motor states or in the number of errors when filling the diaries. Conclusions: This electronic motor diary proved to be reliable for ON-OFF state and dyskinesia identification and classification. However, no advantage to paper diary has been observed in terms of number of erroneous entries. Based on these results, to improve home motor fluctuations, detection efforts should be directed toward the development of automatic wearable devices rather than digital versions of current available ON-OFF diaries.
BACKGROUND AND PURPOSE:
To assess, through systematic review, distinctive or common clinical sig... more BACKGROUND AND PURPOSE:
To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature.
METHODS:
This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure.
RESULTS:
In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features.
CONCLUSIONS:
Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified
... more Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified
according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the
most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement
disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic
databases up to January 2013. Publications containing descriptions of ADCA clinical features written
in several languages were selected initially based on title and abstract screening, followed by full-text
reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed
patients were extracted. Analysis of individual patient data from subjects with movement disorders was
performed using the chi-square test and logistic regression. One thousand and sixty-six publications
reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755
patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom
onset symptom data were available, one third referred a movement disorder as the initial symptom. During
overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the
absence of ataxia and characterized as responding to dopaminergic medications. Motor complications
developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features
were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic
dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of
movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and
dystonia were the most common.
Olfactory function assessment is an important screening tool and also may differentiate Parkinson... more Olfactory function assessment is an important screening tool and also may differentiate Parkinson&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (PD) patients from other parkinsonisms, including nondegenerative ones, such as, normal pressure hydrocephalus, vascular, drug induced, or infectious parkinsonism. Several authors in different countries have reported various sets of odors that best differentiate between these conditions. It is debated if distinctive patterns of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;restrictive&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; or &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;selective&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; hyposmia in PD may be affected by cultural aspects. To compare the olfactory identification function in PD across different countries, we analyzed Sniffin&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; Sticks identification task results between 112 PD patients from Argentina and previously reported data of PD patients from Brazil (106 patients), the Netherlands (400 patients), Germany (40 patients), China (110 patients), and Sri Lanka (89 patients). Categorical principal component analysis (CATPCA) was performed to find components reflecting groups of odors similarly perceived across subjects. CATPCA analysis found 2 components for each group which shared 10 out of 16 odors amongst each other. We found that only the shared items of component 2 (orange, mint, banana, garlic, coffee, cloves, and fish) showed uniform results across all of the included countries, whereas variations in component 1 (licorice, turpentine, and apple) were attributed mostly to differences across control groups.
Nonmotor symptoms (NMS) like neuropsychiatric symptoms, sleep disturbances or autonomic symptoms ... more Nonmotor symptoms (NMS) like neuropsychiatric symptoms, sleep disturbances or autonomic symptoms are a common feature of Parkinson's disease (PD). To explore the existence of groups of NMS and to relate them to PD characteristics, 71 idiopathic non-demented PD out-patients were recruited. Sleep was evaluated by the PD Sleep Scale (PDSS). Several neuropsychiatric, gastrointestinal and urogenital symptoms were obtained from the NMSQuest. Sialorrhea or dysphagia severity was obtained from the Unified PD Rating Scale activities of daily living section. MADRS depression scale was also administered. Exploratory factor analysis revealed the presence of 5 factors, explaining 70% of variance. The first factor included PDSS measurement of sleep quality, nocturnal restlessness, off-related problems and daytime somnolence; the second factor included nocturia (PDSS) and nocturnal activity; the third one included gastrointestinal and genitourinary symptoms; the forth one included nocturnal ps...
Pathological gambling (PG) in Parkinson&#39;s disease (PD) is a frequent impulse control diso... more Pathological gambling (PG) in Parkinson&#39;s disease (PD) is a frequent impulse control disorder associated mainly with dopamine replacement therapy. As impairments in decision-making were described independently in PG and PD, the objective of this study was to assess decision-making processes in PD patients with and without PG. Seven PD patients with PG and 13 age, sex, education and disease severity matched PD patients without gambling behavior were enrolled in the study. All patients were assessed with a comprehensive neuropsychiatric and cognitive evaluation, including tasks used to assess decision-making abilities under ambiguous or risky situations, like the Iowa Gambling Task (IGT), the Game of Dice Task and the Investment Task. Compared to PD patients without gambling behavior, those with PG obtained poorer scores in the IGT and in a rating scale of social behavior, but not in other decision-making and cognitive tasks. Low performance in decision-making under ambiguity and abnormal social behavior distinguished PD patients with PG from those without this disorder. Dopamine replacement therapy may induce dysfunction of the ventromedial prefrontal cortex and amygdala-ventral striatum system, thus increasing the risk for developing PG.
Fluctuation is a common feature of all psychogenic gait disorder (PGD) patterns. Whether this flu... more Fluctuation is a common feature of all psychogenic gait disorder (PGD) patterns. Whether this fluctuation involves only the degree of impairment or whether it affects the gait pattern itself remains an interesting question. We hypothesize that, on repeated measurements, both normal and abnormal gait may present quantitative differences while maintaining their basic underlying pattern; conversely, in psychogenic gait, the basic pattern appears not to be preserved. Using an optoelectronic system, data acquired from 19 normal subjects and 66 patients were applied to train a neural network (NN) and subsequently classify gait patterns into four different groups (normal, ataxic, spastic-paraparetic and parkinsonian). Five patients who fulfilled clinical criteria for psychogenic gait and six controls were then prospectively evaluated on two separate occasions, three months apart. Normal controls and ataxic, parkinsonian or spastic patients were correctly identified by the NN, and categoriz...
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To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature.
METHODS:
This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure.
RESULTS:
In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features.
CONCLUSIONS:
Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the
most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement
disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic
databases up to January 2013. Publications containing descriptions of ADCA clinical features written
in several languages were selected initially based on title and abstract screening, followed by full-text
reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed
patients were extracted. Analysis of individual patient data from subjects with movement disorders was
performed using the chi-square test and logistic regression. One thousand and sixty-six publications
reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755
patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom
onset symptom data were available, one third referred a movement disorder as the initial symptom. During
overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the
absence of ataxia and characterized as responding to dopaminergic medications. Motor complications
developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features
were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic
dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of
movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and
dystonia were the most common.
To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature.
METHODS:
This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure.
RESULTS:
In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features.
CONCLUSIONS:
Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the
most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement
disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic
databases up to January 2013. Publications containing descriptions of ADCA clinical features written
in several languages were selected initially based on title and abstract screening, followed by full-text
reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed
patients were extracted. Analysis of individual patient data from subjects with movement disorders was
performed using the chi-square test and logistic regression. One thousand and sixty-six publications
reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755
patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom
onset symptom data were available, one third referred a movement disorder as the initial symptom. During
overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the
absence of ataxia and characterized as responding to dopaminergic medications. Motor complications
developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features
were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic
dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of
movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and
dystonia were the most common.