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.
· Current Genetic Medicine Rep... · 0 citations