Spinocerebellar ataxia type 30 (Q101092): Difference between revisions
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Ataxia espinocerebelar tipo 30 (SCA30) é um subtipo muito raro de ataxia cerebelar autossômica dominante tipo 3 (ACAD tipo 3; ver este termo), caracterizado por ataxia cerebelar pura e lentamente progressiva com idade média de início aos 52 anos e descrita em 6 pacientes de uma família australiana até o momento. O gene causal ainda não foi descoberto porém foi mapeado para o cromossomo 4q34.3-q35.1. | |||
| description / en | description / en | ||
Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterised 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. | |||
Revision as of 17:53, 16 August 2026
Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterised 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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_716324960 |
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| English | Spinocerebellar ataxia type 30 |
Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterised 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. |
