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GENATLAS PHENOTYPE

last update : 22-03-2022

Symbol	SCA45
Location	5q33.1
Name	spinocerebellar ataxia 45
Corresponding gene	FAT2
Main clinical features	late-onset spinocerebellar ataxia after age 40 relatively pure cerebellar syndrome with limb and gait ataxia, downbeat nystagmus, and dysarthria brain MRI showed atrophy of the cerebellar vermis and hemosiderin deposits in the mesencephalon
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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