Spinocerebellar ataxia autosomal recessive 1

Common Name(s)

Spinocerebellar ataxia autosomal recessive 1

Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders ({12:Moreira et al., 2004}). However, because oculomotor apraxia is only an occasional feature of AOA2, {10:Koenig (2001)} urged that it not be referred to as a form of AOA. {9:Duquette et al. (2005)} also emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 ({607250}). The disorder is designated here as autosomal recessive spinocerebellar ataxia-1 (SCAR1) because oculomotor apraxia is an inconsistent finding.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spinocerebellar ataxia autosomal recessive 1" for support, advocacy or research.

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Scientific Literature

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