" /> Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 - CISMeF





Preferred Label : Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;

Symbol : SCAN2;

CISMeF acronym : SCAN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ataxia-ocular apraxia 2; Ataxia-oculomotor apraxia 2; AOA2; Spinocerebellar ataxia, autosomal recessive 1; SCAR1;

Description : Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders (Moreira et al., 2004). However, because oculomotor apraxia is only an occasional feature of AOA2, Koenig (2001) urged that it not be referred to as a form of AOA. 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), since oculomotor apraxia is an inconsistent finding.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the senataxin gene (SETX, 608465.0001);

Laboratory abnormalities : Increased serum alpha-fetoprotein; Increased serum gamma-globulin; Increased serum creatine kinase (less common);

Prefixed ID : #606002;

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29/07/2025


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