Frequency of GBA Variants in Autopsy-proven Multiple System Atrophy
نویسندگان
چکیده
منابع مشابه
Variants associated with Gaucher disease in multiple system atrophy
OBJECTIVE Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case-control series. METHODS We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 ...
متن کاملAcalculia in autopsy-proven corticobasal degeneration.
Corticobasal degeneration (CBD) is a neurodegenerative condition presenting with an asymmetric extrapyramidal disorder, cortical sensory loss, and apraxia. While the original case descriptions mentioned acalculia,1 few studies have investigated this,2,3 and reports of acalculia in autopsy-proven CBD are very rare. We detail 2 autopsy-defined CBD cases with acalculia to emphasize that CBD compro...
متن کاملMultiple system atrophy.
Multiple system atrophy (MSA) is an adult-onset sporadic progressive neurodegenerative disorder of unknown etiology. It is clinically characterized by the variable combination of autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs. The present review summarizes up-to-date knowledge on the clinical diagnosis and molecular pathology of MSA. We also review the role of additiona...
متن کاملMultiple system atrophy.
Multiple system atrophy is a neurological disorder that has gone unrecognized for too long due to its involvement across multiple regions of the central nervous system. This disorder is finally being unveiled through increased reporting in the scientific literature. Further research will enhance our understanding of this disease and lead to more effective treatment regimens as well as an improv...
متن کاملDystonia in multiple system atrophy.
OBJECTIVE To delineate the frequency and nature of dystonia in multiple system atrophy (MSA). METHODS A cohort of 24 patients with clinically probable MSA over the past 10 years were prospectively followed up. Motor features were either dominated by parkinsonism (MSA-P subtype, n=18) or cerebellar ataxia (MSA-C, n=6). Classification of dystonic features and their changes with time was based o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2017
ISSN: 2330-1619
DOI: 10.1002/mdc3.12481