Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

doi:10.1093/brain/awaf111

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Article

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Brain : a journal of neurology - 1 Aug 2025

Hengel Holger, Hannan Shabab B, Reich Selina, Beijer Danique, Roller Johanna, Gilsbach Bernd K, Gloeckner Christian Johannes, Greene Daniel, Timmann Dagmar, Depienne Christel, Mumford Andrew, O'Driscoll Mary, Nemeth Andrea H, Lundberg Julie, Rodan Lance H, Bruel Ange-Line, Delanne Julian, Deconinck Tine, Baets Jonathan, Gan-Or Ziv, Rouleau Guy, Suchowersky Oksana, Estiar Mehrdad A, Reich Stephen, Toro Camilo, Züchner Stephan, Hazan Jamilé, Pétursson Hjörvar, Harmuth Florian, Bauer Claudia, Bauer Peter, Turro Ernest, Lambright David, Schöls Ludger, Synofzik Matthis

Abstract excerpt

RAB3A encodes a small GTP-binding protein that is abundant in brain synaptic vesicles and crucial for the release of neurotransmitters and synaptic plasticity. Here, we identified RAB3A as a candidate gene for autosomal dominant cerebellar ataxia by two independent approaches: linkage in a large dominant ataxia family and, in parallel, an untargeted computational genetic association approach, analysing the 100...

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Identifiers

PMID: 40166812
DOI: 10.1093/brain/awaf111
PMCID: PMC12316009

Genes

RAB3A

Variants

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