August 5, 2025Open Access

An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia

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Identifying RAB3A mutation reveals disrupted effector protein interactions in families with cerebellar ataxia.

The R83W mutation in rab3a is linked to adult-onset cerebellar ataxia with progressive symptoms.
Affected individuals showed cerebellar atrophy and cortical degeneration confirmed by MRI and neuropathological exams.
The mutation disrupts binding to key effector proteins, affecting rab3a's normal function in the brain.
These findings suggest a mechanism of presynaptic dysfunction at synapses influenced by the rab3a-rim1 complex.

Miyamoto et al. (2025) studied this question.

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