Novel KIF1A Variant in a Patient with Cerebellar Atrophy and Ataxia: A Case Report (P6-5.031)

To report a novel KIF1A variant in a 57-year-old woman and explore its association with cerebellar atrophy and ataxia, highlighting the significance of evaluating variants outside the typical motor domain in diagnosing KIF1A-associated neurological disorders (KAND).

Authors

Winona Tse (ORCID: https://orcid.org/0000-0002-8527-0936)
Sema Akkus
Ayuko A Iverson

Publication Details

Journal: Neurology
Published: 2025-04-07
DOI: https://doi.org/10.1212/wnl.0000000000208471
Primary Topic: Mitochondrial Function and Pathology
Type: article
Field-Weighted Citation Impact: 0.00

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article

Novel KIF1A Variant in a Patient with Cerebellar Atrophy and Ataxia: A Case Report (P6-5.031)

Winona Tse, Sema Akkus, Ayuko A Iverson

Apr 7, 2025

Neurology

Mitochondrial Function and Pathology

article

Novel KIF1A Variant in a Patient with Cerebellar Atrophy and Ataxia: A Case Report (P6-5.031)

Winona Tse, Sema Akkus, Ayuko A Iverson

April 7, 2025article en

Abstract

NeurologyVol. 104(7_Supplement_1)

Good health and well-being

Openalex Percentile: Top 94%

Mitochondrial Function and Pathology

DOI Source OpenAlex

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Novel KIF1A Variant in a Patient with Cerebellar Atrophy and Ataxia: A Case Report (P6-5.031) — Winona Tse, Sema Akkus, et al. · Neurology (2025) | TGRS Research Map | TGRS