Innovations in clinical neuroscience · 2026
KIF1A Mutation Presenting With Adult-Onset Cerebellar Ataxia and Axonal Neuropathy: A Rare Phenotype of KAND.
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Totuk Özlem, Sahin Sevki
Аннотация
OBJECTIVE: To report an adult-onset phenotype of KIF1A-associated neurological disorder (KAND) associated with a novel heterozygous missense variant (c.2494C>T; p.Pro832Ser) located outside the kinesin motor domain.
CASE PRESENTATION: We describe a 50-year-old woman with a 15-year history of progressive imbalance. Neurological examination revealed cerebellar dysarthria, truncal ataxia, bilateral dysmetria, and sensorimotor polyneuropathy. Brain magnetic resonance imaging demonstrated moderate cerebellar atrophy. Whole-exome sequencing identified a heterozygous KIF1A variant (c.2494C>T; p.Pro832Ser). No other pathogenic mutations were found.
RESULTS: The variant was classified as a variant of uncertain significance, yet the patient's clinical presentation was consistent with features of KAND. Compared with previously described early-onset KAND cases, our patient exhibited a milder, slowly progressive phenotype without seizures or cognitive impairment. The variant's location outside the motor domain may correlate with this attenuated disease course.
CONCLUSION: This case expands the phenotypic and genotypic spectrum of KAND and suggests that the novel KIF1A p.Pro832Ser variant may contribute to adult-onset cerebellar ataxia and axonal neuropathy. To our knowledge, this variant is not listed in ClinVar or population databases such as gnomAD or ExAC.
CASE PRESENTATION: We describe a 50-year-old woman with a 15-year history of progressive imbalance. Neurological examination revealed cerebellar dysarthria, truncal ataxia, bilateral dysmetria, and sensorimotor polyneuropathy. Brain magnetic resonance imaging demonstrated moderate cerebellar atrophy. Whole-exome sequencing identified a heterozygous KIF1A variant (c.2494C>T; p.Pro832Ser). No other pathogenic mutations were found.
RESULTS: The variant was classified as a variant of uncertain significance, yet the patient's clinical presentation was consistent with features of KAND. Compared with previously described early-onset KAND cases, our patient exhibited a milder, slowly progressive phenotype without seizures or cognitive impairment. The variant's location outside the motor domain may correlate with this attenuated disease course.
CONCLUSION: This case expands the phenotypic and genotypic spectrum of KAND and suggests that the novel KIF1A p.Pro832Ser variant may contribute to adult-onset cerebellar ataxia and axonal neuropathy. To our knowledge, this variant is not listed in ClinVar or population databases such as gnomAD or ExAC.