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Article

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

American journal of human genetics - 7 Sept 2012

Guergueltcheva Velina, Azmanov Dimitar N, Angelicheva Dora, Smith Katherine R, Chamova Teodora, Florez Laura, Bynevelt Michael, Nguyen Thai, Cherninkova Sylvia, Bojinova Veneta, Kaprelyan Ara, Angelova Lyudmila, Morar Bharti, Chandler David, Kaneva Radka, Bahlo Melanie, Tournev Ivailo, Kalaydjieva Luba

Abstract excerpt

Autosomal-recessive congenital cerebellar ataxia was identified in Roma patients originating from a small subisolate with a known strong founder effect. Patients presented with global developmental delay, moderate to severe stance and gait ataxia, dysarthria, mild dysdiadochokinesia, dysmetria and tremors, intellectual deficit, and mild pyramidal signs. Brain imaging revealed progressive generalized cerebellar...

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Identifiers

PMID: 22901947
DOI: 10.1016/j.ajhg.2012.07.019
PMCID: PMC3511982

Genes

GRM1

Variants

Provenance

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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