The concept of cognitive reserve (CR) is being increasingly used to explain the observation that ... more The concept of cognitive reserve (CR) is being increasingly used to explain the observation that there is often a poor correspondence between the presence of pathology at autopsy and the level of cognitive decline in life. Since dementia affects an increasing proportion of the population, imposing a large economic burden on our society, in the absence of disease-modifying treatments it is crucial to detect lifestyle factors that may play a protective role in older individuals, delaying the onset of cognitive impairment. Subjective cognitive impairment (SCI), mild cognitive impairment (MCI) and Alzheimer’s disease (AD) are part of the same spectrum of disease progression. Since memory complaints represent a very common symptom reported by the older community population, early diagnosis of cognitive decline is not always easy, which makes it extremely important to find strategies that help detect individuals who deserve specific exams in a specialist setting. Therefore, we compared a ...
Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery... more Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy.
Mitochondrial diseases (MD) with respiratory chain defects are caused by genetic mutations that d... more Mitochondrial diseases (MD) with respiratory chain defects are caused by genetic mutations that determine an impairment of the electron transport chain functioning. Diagnosis often requires a complex approach with measurements of serum lactate, magnetic resonance spectroscopy (MRS), muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing. The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Exercise intolerance is a common symptom of MD, due to increased dependence of skeletal muscle on anaerobic metabolism, with an excess lactate generation, phosphocreatine depletion, enhanced free radical production, reduced oxygen extraction and electron flux through the respiratory chain. MD treatment has included antioxidants (vitamin E, alpha lipoic acid), coenzyme Q10, riboflavin, creatine monohydrate, dichloroacetate and exercise training. Exercise is a particularly important tool in diagnosis as well as in...
Background: Cognitive reserve (CR) has been defined as a set of skills and repertoires, character... more Background: Cognitive reserve (CR) has been defined as a set of skills and repertoires, characterized by personal lifestyle and habits and is considered a protective factor against cognitive impairment (Scarmeas et al.,2003, Stern et al., 2009), particularly in the earlier stages. Indeed, a higher CR may be associated to a more efficient utilization of brain networks, as suggested by themore focused task-related neural responses found in functional magnetic resonance imaging (fMRI) studies in healthy individuals (Bernardi et al., 2011). Here we aim to determine the correlation between CR scores and patterns of brain response in both subjective cognitive impairment (SCI) and mild cognitive impairment (MCI) subjects, while they perform a spatial attention task. Methods: Thirty-one MCI (14M, 74.0 yr 6 5.2) and 24 SCI (13M, 72.0 yr 6 5.8) patients underwent neuropsychological assessment and a fMRI experimental protocol (GE 1.5 T, GRE-EPI, TR 2.5s, TE 50ms, 33 Axial Slices, 3mm isotropic voxel, FA 90 , 180 volumes) during a visuo-spatial attention task (Bernardi et al., 2011). Cognitive Reserve Index (CRIq, Nucci et al., 2001) scores were correlated (Cox et al., 1996) to task-related brain responses, considering age as a confounding factor, after processing fMRI data at an individual and group level. Results: CRIq scores negatively correlated with neural responses (p<0.05 cluster corrected) in the task-related bilateral parietal areas (R 2 1⁄40.365) within the spatial dorsal stream, the superior, middle and inferior frontal cortex (R 2 1⁄40.373), and the posterior cingulate cortex (R 2 1⁄40.28). Conclusions: Our findings demonstrate that in the early stages of cognitive decline, neural response is inversely related to cognitive reserve both when the mental decline is clinically quantifiable (MCI) and when there is no supporting objective evidence from neuropsychological testing (SCI).
The European journal of neuroscience, Jan 28, 2017
Mild Cognitive Impairment (MCI) is an intermediate condition between normal aging and dementia, a... more Mild Cognitive Impairment (MCI) is an intermediate condition between normal aging and dementia, associated with an increased risk of progression into the latter within months or years. Olfactory impairment, a well-known biomarker for neurodegeneration, might be present in the condition early, possibly representing a signal for future pathological onset. Our study aimed at evaluating olfactory function in MCI and healthy controls in relation to neurocognitive performance and endothelial function. A total of 85 individuals with MCI and 41 healthy controls, matched for age and gender, were recruited. Olfactory function was assessed by Sniffin' Sticks Extended Test (Burghart, Medizintechnik, GmbH, Wedel, Germany). A comprehensive neurocognitive assessment was performed. Endothelial function was assessed by flow-mediated dilation (FMD) of the brachial artery by ultrasound. MCI individuals showed an impaired olfactory function compared to controls. The overall olfactory score is able ...
Polysomnographic (PSG) studies in mild cognitive impairment (MCI) are not conclusive and are limi... more Polysomnographic (PSG) studies in mild cognitive impairment (MCI) are not conclusive and are limited only to conventional sleep parameters. The aim of our study was to evaluate sleep architecture and cyclic alternating pattern (CAP) parameters in subjects with MCI, and to assess their eventual correlation with cognition. Eleven subjects with MCI (mean age 68.5 ± 7.0 years), 11 patients with mild probable Alzheimer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (AD; mean age 72.7 ± 5.9 years), referred to the Outpatient Cognitive Disorders Clinic, and 11 cognitively intact healthy elderly individuals (mean age 69.2 ± 12.6 years) underwent ambulatory PSG for the evaluation of nocturnal sleep architecture and CAP parameters. Rapid eye movement sleep, CAP rate, and CAP slow components (A1 index) were decreased in MCI subjects and to a greater extent in AD patients, compared to cognitively intact controls. AD showed also decreased slow wave sleep (SWS) relative to healthy elderly individuals. MCI nappers showed decreased nocturnal SWS and A1 subtypes compared to non-nappers. Several correlations between sleep variables and neuropsychological tests were found. MCI and AD subjects showed a decreased sleep instability correlated with their cognitive decline. Such a decrease may be considered as a potential biomarker of underlying neurodegeneration.
The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of di... more The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a ...
2010 8th IEEE International Conference on Pervasive Computing and Communications Workshops, PERCOM Workshops 2010, 2010
The profound, pervasive and enduring consequences of the ageing population present enormous chall... more The profound, pervasive and enduring consequences of the ageing population present enormous challenges as well as enormous opportunities for Information and Communication Technology. In this paper we report an architecture designed to monitor, support and manage the physical activities of the elderly. We realized an unobtrusive wireless body area network to ecologically track the lower body parts motion integrated with
The concept of cognitive reserve (CR) is being increasingly used to explain the observation that ... more The concept of cognitive reserve (CR) is being increasingly used to explain the observation that there is often a poor correspondence between the presence of pathology at autopsy and the level of cognitive decline in life. Since dementia affects an increasing proportion of the population, imposing a large economic burden on our society, in the absence of disease-modifying treatments it is crucial to detect lifestyle factors that may play a protective role in older individuals, delaying the onset of cognitive impairment. Subjective cognitive impairment (SCI), mild cognitive impairment (MCI) and Alzheimer’s disease (AD) are part of the same spectrum of disease progression. Since memory complaints represent a very common symptom reported by the older community population, early diagnosis of cognitive decline is not always easy, which makes it extremely important to find strategies that help detect individuals who deserve specific exams in a specialist setting. Therefore, we compared a ...
Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery... more Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy.
Mitochondrial diseases (MD) with respiratory chain defects are caused by genetic mutations that d... more Mitochondrial diseases (MD) with respiratory chain defects are caused by genetic mutations that determine an impairment of the electron transport chain functioning. Diagnosis often requires a complex approach with measurements of serum lactate, magnetic resonance spectroscopy (MRS), muscle histology and ultrastructure, enzymology, genetic analysis, and exercise testing. The ubiquitous distribution of the mitochondria in the human body explains the multiple organ involvement. Exercise intolerance is a common symptom of MD, due to increased dependence of skeletal muscle on anaerobic metabolism, with an excess lactate generation, phosphocreatine depletion, enhanced free radical production, reduced oxygen extraction and electron flux through the respiratory chain. MD treatment has included antioxidants (vitamin E, alpha lipoic acid), coenzyme Q10, riboflavin, creatine monohydrate, dichloroacetate and exercise training. Exercise is a particularly important tool in diagnosis as well as in...
Background: Cognitive reserve (CR) has been defined as a set of skills and repertoires, character... more Background: Cognitive reserve (CR) has been defined as a set of skills and repertoires, characterized by personal lifestyle and habits and is considered a protective factor against cognitive impairment (Scarmeas et al.,2003, Stern et al., 2009), particularly in the earlier stages. Indeed, a higher CR may be associated to a more efficient utilization of brain networks, as suggested by themore focused task-related neural responses found in functional magnetic resonance imaging (fMRI) studies in healthy individuals (Bernardi et al., 2011). Here we aim to determine the correlation between CR scores and patterns of brain response in both subjective cognitive impairment (SCI) and mild cognitive impairment (MCI) subjects, while they perform a spatial attention task. Methods: Thirty-one MCI (14M, 74.0 yr 6 5.2) and 24 SCI (13M, 72.0 yr 6 5.8) patients underwent neuropsychological assessment and a fMRI experimental protocol (GE 1.5 T, GRE-EPI, TR 2.5s, TE 50ms, 33 Axial Slices, 3mm isotropic voxel, FA 90 , 180 volumes) during a visuo-spatial attention task (Bernardi et al., 2011). Cognitive Reserve Index (CRIq, Nucci et al., 2001) scores were correlated (Cox et al., 1996) to task-related brain responses, considering age as a confounding factor, after processing fMRI data at an individual and group level. Results: CRIq scores negatively correlated with neural responses (p<0.05 cluster corrected) in the task-related bilateral parietal areas (R 2 1⁄40.365) within the spatial dorsal stream, the superior, middle and inferior frontal cortex (R 2 1⁄40.373), and the posterior cingulate cortex (R 2 1⁄40.28). Conclusions: Our findings demonstrate that in the early stages of cognitive decline, neural response is inversely related to cognitive reserve both when the mental decline is clinically quantifiable (MCI) and when there is no supporting objective evidence from neuropsychological testing (SCI).
The European journal of neuroscience, Jan 28, 2017
Mild Cognitive Impairment (MCI) is an intermediate condition between normal aging and dementia, a... more Mild Cognitive Impairment (MCI) is an intermediate condition between normal aging and dementia, associated with an increased risk of progression into the latter within months or years. Olfactory impairment, a well-known biomarker for neurodegeneration, might be present in the condition early, possibly representing a signal for future pathological onset. Our study aimed at evaluating olfactory function in MCI and healthy controls in relation to neurocognitive performance and endothelial function. A total of 85 individuals with MCI and 41 healthy controls, matched for age and gender, were recruited. Olfactory function was assessed by Sniffin' Sticks Extended Test (Burghart, Medizintechnik, GmbH, Wedel, Germany). A comprehensive neurocognitive assessment was performed. Endothelial function was assessed by flow-mediated dilation (FMD) of the brachial artery by ultrasound. MCI individuals showed an impaired olfactory function compared to controls. The overall olfactory score is able ...
Polysomnographic (PSG) studies in mild cognitive impairment (MCI) are not conclusive and are limi... more Polysomnographic (PSG) studies in mild cognitive impairment (MCI) are not conclusive and are limited only to conventional sleep parameters. The aim of our study was to evaluate sleep architecture and cyclic alternating pattern (CAP) parameters in subjects with MCI, and to assess their eventual correlation with cognition. Eleven subjects with MCI (mean age 68.5 ± 7.0 years), 11 patients with mild probable Alzheimer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (AD; mean age 72.7 ± 5.9 years), referred to the Outpatient Cognitive Disorders Clinic, and 11 cognitively intact healthy elderly individuals (mean age 69.2 ± 12.6 years) underwent ambulatory PSG for the evaluation of nocturnal sleep architecture and CAP parameters. Rapid eye movement sleep, CAP rate, and CAP slow components (A1 index) were decreased in MCI subjects and to a greater extent in AD patients, compared to cognitively intact controls. AD showed also decreased slow wave sleep (SWS) relative to healthy elderly individuals. MCI nappers showed decreased nocturnal SWS and A1 subtypes compared to non-nappers. Several correlations between sleep variables and neuropsychological tests were found. MCI and AD subjects showed a decreased sleep instability correlated with their cognitive decline. Such a decrease may be considered as a potential biomarker of underlying neurodegeneration.
The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of di... more The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a ...
2010 8th IEEE International Conference on Pervasive Computing and Communications Workshops, PERCOM Workshops 2010, 2010
The profound, pervasive and enduring consequences of the ageing population present enormous chall... more The profound, pervasive and enduring consequences of the ageing population present enormous challenges as well as enormous opportunities for Information and Communication Technology. In this paper we report an architecture designed to monitor, support and manage the physical activities of the elderly. We realized an unobtrusive wireless body area network to ecologically track the lower body parts motion integrated with
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