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ataxia-oculomotor apraxia 2 (AOA2/SCAR1)

Also calla spinocerebellar ataxia. Is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia.
Is characterized by onset between age three and 30 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum concentration of alpha-fetoprotein (AFP).
The diagnosis of AOA2 is based on clinical and biochemical findings, family history, and exclusion of the diagnosis of ataxia-telangiectasia and AOA1. AOA2 is associated with mutations in the gene SETX, which encodes the protein senataxin. AOA2 is inherited in an autosomal recessive manner.

OTHER NAME(S): spinocerebellar ataxia autosomal recessive type 1


TYPE: neurodegenerative disease, mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem

DNAtraffic protein(s) related to disease: SETX

OMIM: 606002

Last modification date: Aug. 17, 2011