Parkinson disease (PD) is one of the common causes of imbalance, and the balance assessment is ne... more Parkinson disease (PD) is one of the common causes of imbalance, and the balance assessment is necessary for treatment and rehabilitation of these patients. The Berg Balance Scale (BBS) has been the main instrument used to evaluate balance impairment. The purpose of this study is to investigate reliability and validity of the Persian translation of BBS in Parkinson disease. One hundred PD patients (with mean age of 56.8 ± 15.13 years) were included. Interrater reliability was measured with the Kappa statistics and interclass correlation coefficients. The mean values of the BBS scored by the two evaluators were 47/85 ± 11/09 and 48/03 ± 10/90, respectively. The mean of Kappa coefficient between two examiners was 0.76, which was between 0.38 and 0.93 for various items. The total score recorded by both examiners, interclass correlation coefficient, was 0.99, which is excellent. Cronbach's alpha for Iranian version of BBS was 0.92, which shows the excellent reliability of the questionnaire (0.62-0.9 for all items). The Persian version of the BBS has excellent interrater reliability and internal consistency for the assessment of PD patients.
Parkinson's disease (PD) is one of the most common neurodegenerative diso... more Parkinson's disease (PD) is one of the most common neurodegenerative disorders; its etiologically includes both genetic and environmental factors and their interactions. The ZNF512B, SLC41A1, and ALDH2 genes have recently been identified as contributing to PD. In this study we investigated the association of these genes with PD in the Iranian population. In a case-control study, rs2275294, rs11240569, and rs4767944, three single nucleotide polymorphisms in ZNF512B, SLC41A1, and ALDH2 genes, respectively, were genotyped in 490 PD patients and 490 controls. The genotype and allele frequencies were compared between the two groups using chi-square and logistic regression tests. A significant association between the rs11240569 polymorphism and a reduced risk of PD was found (p = 0.014, OR = 0.76, 95% CI: 0.60-0.94 for allele frequencies). We did not find any associations between PD and the rs2275294 and rs4767944 polymorphisms. The association of rs11240569 polymorphism in SLC41A1 gene with reduced risk of PD was replicated in our population.
... Search result page. Title: Translation and validation of the Persian version of the 39 item P... more ... Search result page. Title: Translation and validation of the Persian version of the 39 item Parkinson's Disease Questionnaire (PDQ-39). Author: Marzieh Nojomi ; Zahra Mostafavian ; Gholam Ali Shahidi ; Crispin Jenkinson Dphil. ...
Neurological disorders include a wide variety of mostly multifactorial diseases related to the de... more Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.
We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficienc... more We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficiency in a consanguineous family with 3 affected siblings by linkage analysis and exome sequencing. Iron accumulation in the brain of the patients was a notable phenotypic feature. A full-field electroretinography revealed generalized dysfunction of photoreceptors, bipolar cells, and amacrine cells. A splice site mutation in GTPBP2 that encodes GTP-binding protein 2 was identified in the patients and considered possible cause of their disease. The mutation was empirically shown to cause deletion of exon 9 of the gene and result in production of a truncated protein-lacking conserved C-terminus domains. GTPBP2 is a member of the GTPase superfamily of proteins. A recent report of identification of another splice site mutation in GTPBP2 in mice that causes neurodegeneration, and retinal damage provides supportive evidence for our finding. The conditions in the affected individuals of the family studied may define a novel form of neurodegeneration with brain iron accumulation, and GTPBP2 may be a novel neurodegeneration with brain iron accumulation gene.
Objective: To evaluate the prevalence of depression and anxiety in Parkinson's disease (PD) p... more Objective: To evaluate the prevalence of depression and anxiety in Parkinson's disease (PD) patients after STN-DBS, and to reveal depression and anxiety associated factors in these patients. Background: PD patients experience a high rate of anxiety and depressive symptoms. However, prevalence of these psychological features is not well known in patients who underwent STN-DBS. Methods: In this cross-sectional study, 24 consecutive patients with Parkinson's disease were included 2 to 72 months after DBS surgery (mean 30.6 ± 21.7 months). Patients were evaluated by mini-mental status examination (MMSE), Hoehn and Yahr scale, Schwab and England activities of daily living scale, Beck Depression Inventory and Beck Anxiety Inventory. Results: The prevalence of depression and anxiety in Parkinson's disease patients treated with DBS were 25% and 37.5%, respectively. Anxiety and depression were not related with age, gender, age at onset, the side of symptom's onset, disease du...
Restless legs syndrome (RLS) is the most common movement disorder in pregnancy, which can be idio... more Restless legs syndrome (RLS) is the most common movement disorder in pregnancy, which can be idiopathic or secondary. There are limited comparative data regarding these two forms of RLS. The aim of this study was to compare clinical features of idiopathic and secondary RLS in pregnant women. Over a period of 3 months, 443 women who admitted for delivery in two clinical centers were screened for RLS using four diagnostic criteria of the international RLS study group. A total of 79 subjects diagnosed with RLS were consecutively enrolled in the present study. All of them were interviewed for medical history and complaints during pregnancy and responded to self-administer international RLS rating scale. Ten subjects (12.9%) out of 79 pregnant women with RLS had idiopathic form, and their mean age was significantly higher than patients with secondary RLS (30.6 ± 7.3 years vs. 26.4 ± 4.6 years, P = 0.0260). Compared with women with secondary RLS, sleep duration in pregnancy was significan...
Parkinson disease is a multisystem neurodegenerative disease which involves not only basal gangli... more Parkinson disease is a multisystem neurodegenerative disease which involves not only basal ganglia and extrapyramidal system but also many other neurologic systems such as retinal ganglion cells. Optical coherence tomography (OCT) is a non-invasive method for assessment of retinal nerve fiber layer (RNFL) thickness and its changes in different diseases. To evaluate the RNFL thickness in patients with Parkinson disease (PD), we performed OCT in patients with PD and compared it with a control group. From October 2010 to July 2011, 27 PD patients (54 eyes) and 25 healthy persons (50 eyes) were entered to this analytical cross-sectional study according to the defined criteria. PD patients were categorized into two groups "akinetic rigid (AR) and tremor dominant (TD)". RNFL was divided into four quadrants and was assessed by OCT. Afterwards; the data were analyzed by bivariate and multivariate models. The RNFL thickness in PD was significantly lower than the control group. Also, the thicknesses of inferior and nasal quadrants of RNFL in TD group were significantly more than AR group. According to these findings, OCT can be used as a sensitive and objective marker for assessment of early neurodegenerative changes of PD and early initiation of neuroprotective treatments. Future studies with adequate sample sizes are recommended to investigate interactions between age, distribution of the disease and type of PD as well as the effects of individual factors.
Parkinson disease (PD) is one of the common causes of imbalance, and the balance assessment is ne... more Parkinson disease (PD) is one of the common causes of imbalance, and the balance assessment is necessary for treatment and rehabilitation of these patients. The Berg Balance Scale (BBS) has been the main instrument used to evaluate balance impairment. The purpose of this study is to investigate reliability and validity of the Persian translation of BBS in Parkinson disease. One hundred PD patients (with mean age of 56.8 ± 15.13 years) were included. Interrater reliability was measured with the Kappa statistics and interclass correlation coefficients. The mean values of the BBS scored by the two evaluators were 47/85 ± 11/09 and 48/03 ± 10/90, respectively. The mean of Kappa coefficient between two examiners was 0.76, which was between 0.38 and 0.93 for various items. The total score recorded by both examiners, interclass correlation coefficient, was 0.99, which is excellent. Cronbach's alpha for Iranian version of BBS was 0.92, which shows the excellent reliability of the questionnaire (0.62-0.9 for all items). The Persian version of the BBS has excellent interrater reliability and internal consistency for the assessment of PD patients.
Parkinson's disease (PD) is one of the most common neurodegenerative diso... more Parkinson's disease (PD) is one of the most common neurodegenerative disorders; its etiologically includes both genetic and environmental factors and their interactions. The ZNF512B, SLC41A1, and ALDH2 genes have recently been identified as contributing to PD. In this study we investigated the association of these genes with PD in the Iranian population. In a case-control study, rs2275294, rs11240569, and rs4767944, three single nucleotide polymorphisms in ZNF512B, SLC41A1, and ALDH2 genes, respectively, were genotyped in 490 PD patients and 490 controls. The genotype and allele frequencies were compared between the two groups using chi-square and logistic regression tests. A significant association between the rs11240569 polymorphism and a reduced risk of PD was found (p = 0.014, OR = 0.76, 95% CI: 0.60-0.94 for allele frequencies). We did not find any associations between PD and the rs2275294 and rs4767944 polymorphisms. The association of rs11240569 polymorphism in SLC41A1 gene with reduced risk of PD was replicated in our population.
... Search result page. Title: Translation and validation of the Persian version of the 39 item P... more ... Search result page. Title: Translation and validation of the Persian version of the 39 item Parkinson's Disease Questionnaire (PDQ-39). Author: Marzieh Nojomi ; Zahra Mostafavian ; Gholam Ali Shahidi ; Crispin Jenkinson Dphil. ...
Neurological disorders include a wide variety of mostly multifactorial diseases related to the de... more Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.
We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficienc... more We aimed to identify the genetic cause of a neurologic disorder accompanied with mental deficiency in a consanguineous family with 3 affected siblings by linkage analysis and exome sequencing. Iron accumulation in the brain of the patients was a notable phenotypic feature. A full-field electroretinography revealed generalized dysfunction of photoreceptors, bipolar cells, and amacrine cells. A splice site mutation in GTPBP2 that encodes GTP-binding protein 2 was identified in the patients and considered possible cause of their disease. The mutation was empirically shown to cause deletion of exon 9 of the gene and result in production of a truncated protein-lacking conserved C-terminus domains. GTPBP2 is a member of the GTPase superfamily of proteins. A recent report of identification of another splice site mutation in GTPBP2 in mice that causes neurodegeneration, and retinal damage provides supportive evidence for our finding. The conditions in the affected individuals of the family studied may define a novel form of neurodegeneration with brain iron accumulation, and GTPBP2 may be a novel neurodegeneration with brain iron accumulation gene.
Objective: To evaluate the prevalence of depression and anxiety in Parkinson's disease (PD) p... more Objective: To evaluate the prevalence of depression and anxiety in Parkinson's disease (PD) patients after STN-DBS, and to reveal depression and anxiety associated factors in these patients. Background: PD patients experience a high rate of anxiety and depressive symptoms. However, prevalence of these psychological features is not well known in patients who underwent STN-DBS. Methods: In this cross-sectional study, 24 consecutive patients with Parkinson's disease were included 2 to 72 months after DBS surgery (mean 30.6 ± 21.7 months). Patients were evaluated by mini-mental status examination (MMSE), Hoehn and Yahr scale, Schwab and England activities of daily living scale, Beck Depression Inventory and Beck Anxiety Inventory. Results: The prevalence of depression and anxiety in Parkinson's disease patients treated with DBS were 25% and 37.5%, respectively. Anxiety and depression were not related with age, gender, age at onset, the side of symptom's onset, disease du...
Restless legs syndrome (RLS) is the most common movement disorder in pregnancy, which can be idio... more Restless legs syndrome (RLS) is the most common movement disorder in pregnancy, which can be idiopathic or secondary. There are limited comparative data regarding these two forms of RLS. The aim of this study was to compare clinical features of idiopathic and secondary RLS in pregnant women. Over a period of 3 months, 443 women who admitted for delivery in two clinical centers were screened for RLS using four diagnostic criteria of the international RLS study group. A total of 79 subjects diagnosed with RLS were consecutively enrolled in the present study. All of them were interviewed for medical history and complaints during pregnancy and responded to self-administer international RLS rating scale. Ten subjects (12.9%) out of 79 pregnant women with RLS had idiopathic form, and their mean age was significantly higher than patients with secondary RLS (30.6 ± 7.3 years vs. 26.4 ± 4.6 years, P = 0.0260). Compared with women with secondary RLS, sleep duration in pregnancy was significan...
Parkinson disease is a multisystem neurodegenerative disease which involves not only basal gangli... more Parkinson disease is a multisystem neurodegenerative disease which involves not only basal ganglia and extrapyramidal system but also many other neurologic systems such as retinal ganglion cells. Optical coherence tomography (OCT) is a non-invasive method for assessment of retinal nerve fiber layer (RNFL) thickness and its changes in different diseases. To evaluate the RNFL thickness in patients with Parkinson disease (PD), we performed OCT in patients with PD and compared it with a control group. From October 2010 to July 2011, 27 PD patients (54 eyes) and 25 healthy persons (50 eyes) were entered to this analytical cross-sectional study according to the defined criteria. PD patients were categorized into two groups "akinetic rigid (AR) and tremor dominant (TD)". RNFL was divided into four quadrants and was assessed by OCT. Afterwards; the data were analyzed by bivariate and multivariate models. The RNFL thickness in PD was significantly lower than the control group. Also, the thicknesses of inferior and nasal quadrants of RNFL in TD group were significantly more than AR group. According to these findings, OCT can be used as a sensitive and objective marker for assessment of early neurodegenerative changes of PD and early initiation of neuroprotective treatments. Future studies with adequate sample sizes are recommended to investigate interactions between age, distribution of the disease and type of PD as well as the effects of individual factors.
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