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GENATLAS PHENOTYPE

last update : 14-11-2022

Symbol	SCAR27
Location	1p12
Name	spinocerebellar ataxia, autosomal recessive 27
Corresponding gene	GDAP2
Main clinical features	adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing the disorder is progressive, and some patients may lose independent ambulation; also associated with spasticity of the lower limbs and cognitive impairment brain imaging shows cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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