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GENATLAS PHENOTYPE

last update : 10-02-2022

Symbol	SCA46
Location	19q13.2
Name	spinocerebellar ataxia 46
Corresponding gene	PLD3
Main clinical features	adult-onset sensory ataxic neuropathy with cerebellar signs swaying during walking in the dark, and alsooculomotor abnormalities and also distal sensory impairment in a stocking and glove pattern, but predominantly affecting the lower limbs sensory ataxia due to a sensory axonal polyneuropathy, slowly progressive.
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)