Associated Papers
RAB3A variants in ataxia and other neurodegenerative disorders.
Percetti M et al.
Brain : a Journal of Neurology, 2026
An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.
Miyamoto R et al.
Human Molecular Genetics, 2026
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.
Roller JR et al.
Brain : a Journal of Neurology, 2026
Expanding the clinical spectrum of RAB3A: from cerebellar ataxia to spastic paraplegia.
Mouraux C et al.
Brain : a Journal of Neurology, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
Hengel H et al.
Brain : a Journal of Neurology, 2025
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