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P. Silva

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Jul 2026

New Founder Variant in the Kinesin Family Member 1 C (KIF1C) Gene Causes Cerebellar Ataxia and Tremor

Unlike previously reported KIF1C-related cases, this cohort exhibits a later onset, rare pyramidal involvement, and no consistent neuroimaging abnormalities, thereby expanding the known clinical spectrum of KIF1C-associated disease.

Catarina Borges, Sara Lima, Mafalda Perdicoulis et al. · 0 citations