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Article

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Clinical genetics - 1 Mar 2020

Richmond Christopher M, Leventer Richard, Ryan Monique M, Delatycki Martin B

Abstract excerpt

Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases reported in the medical literature are all caused by pathogenic homozygous or compound heterozygous missense variants in CA8. We report a...

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PMID: 31693170
DOI: 10.1111/cge.13666

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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