Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

doi:10.1002/mds.29754

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Article

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2024

Kaiyrzhanov Rauan, Ortigoza-Escobar Juan Darío, Stringer Brett W, Ganieva Manizha, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Macaya Alfons, Laner Andreas, Onbool Enas, Al-Shammari Randa, Al-Owain Mohammed, Deconinck Nicolas, Vilain Catheline, Dontaine Pauline, Self Eleanor, Akram Rabia, Hussain Ghulam, Baig Shahid Mahmood, Iqbal Javed, Salpietro Vincenzo, Neshatdoust Maedeh, Kasiri Mahboubeh, Yesil Gozde, Uygur Turkan, Pysden Karen, Berry Ian R, Alves Cesar Augusto, Giacomotto Jean, Houlden Henry, Maroofian Reza

Abstract excerpt

BACKGROUND: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3). OBJECTIVES: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular...

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PMID: 38581205
DOI: 10.1002/mds.29754

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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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