Mutations in PDYN are not responsible for multiple system atrophy
نویسندگان
چکیده
منابع مشابه
Multiple system atrophy: genetic risks and alpha-synuclein mutations
Multiple system atrophy (MSA) is one of the few neurodegenerative disorders where we have a significant understanding of the clinical and pathological manifestations but where the aetiology remains almost completely unknown. Research to overcome this hurdle is gaining momentum through international research collaboration and a series of genetic and molecular discoveries in the last few years, w...
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 کاملMultiple system atrophy.
Although the precise definition of multiple system atrophy has been difficult, a recent consensus in diagnostic criteria for multiple system atrophy has been achieved. This should lead to progress in defining the underlying pathophysiology of the neuroendocrine, autonomic and motor deficits characteristic of multiple system atrophy. Hopefully, these developments will lead to effective treatment.
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2013
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-012-6830-x