" /> Spinocerebellar ataxia type 30 - CISMeF





Preferred Label : Spinocerebellar ataxia type 30;

ICD-11 definition : Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by pure and slowly progressive cerebellar ataxia with a mean age of onset of 52 years and described in 6 patients from one Australian family to date. The causative gene has not yet been discovered but it has been mapped to chromosome 4q34.3-q35.1.;

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Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by pure and slowly progressive cerebellar ataxia with a mean age of onset of 52 years and described in 6 patients from one Australian family to date. The causative gene has not yet been discovered but it has been mapped to chromosome 4q34.3-q35.1.

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29/05/2025


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