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GENATLAS PHENOTYPE

last update : 19-10-2018

Symbol	SCAR26
Location	19q13.31
Name	Spinocerebellar ataxia, autosomal recessive 26
Corresponding gene	XRCC1
Main clinical features	disorder progressive with neurologic decline; gait and limb ataxia, with dysmetria, dysdiadochokinesis, dysarthria, and dysphagia oculomotor apraxia with nystagmus and hypermetric saccades and peripheral neuropathy with distal muscle weakness, distal sensory impairment, and loss of reflexes nerve conduction studies showed a chronic length-dependent sensorimotor, predominantly axonal peripheral neuropathy brain imaging showed progressive cerebellar atrophy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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