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Article

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Human mutation - 1 Jan 2026

Jawabri Aseel A, Salazar-Villacorta Ainara, Senghor Henriette, Ndiaye Rokhaya, Al-Mehrzi Alia, Diop Amadou Gallo, Ndiaye Moustapha, Ali Bassam R, Rodriguez Cruz Pedro M

Abstract excerpt

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ)-related disorders are rare, nonprogressive, autosomal recessive conditions primarily characterized by cerebellar ataxia, hypotonia, intellectual disability, delayed ambulation, and, in some cases, quadrupedal locomotion. Pathogenic variants in four disease genes, VLDLR, CA8, WRD81, and ATP8A2, have been linked to these disorders, with...

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Source

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Identifiers

PMID: 42051465
DOI: 10.1155/humu/4661238
PMCID: PMC13112595

Genes

VLDLR
ATP8A2
CA8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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