Multiple system atrophy

Also known as: olivopontocerebellar atrophy (historical); Shy–Drager syndrome (historical)

Sporadic adult-onset alpha-synucleinopathy with autonomic failure and parkinsonism or cerebellar ataxia.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Autonomic neurology
Sex & age distribution: Male: slightly more common; Female: affected; Children: no
Gene(s) involved: COQ2, GBA1, SNCA

Etiology & mechanism

Oligodendroglial cytoplasmic inclusions of alpha-synuclein with striatonigral and olivopontocerebellar degeneration.

Gene(s) involved (3)

COQ2GBA1SNCA

Symptoms & signs (6)

cerebellar ataxiaorthostatic hypotensionparkinsonism (poor levodopa response)rem sleep behavior disorderstridorurinary dysfunction

Note

Overlaps #661, #662, #709 and #911

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