Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study
SPG10 is a rare HSP subtype in the Taiwanese population. This is the first report of SPG10 in Taiwan, highlighting the coexistence of SPG10 and CMT2 within a single family and the significant intra-familial phenotypic variation.
Authors
- Yi‐Jen Wu (ORCID: https://orcid.org/0000-0002-4369-1791)
- Po‐Yu Lin (ORCID: https://orcid.org/0000-0002-8014-616X)
- Ssu‐Ju Fu
- Yi‐Chung Lee (ORCID: https://orcid.org/0000-0003-0102-164X)
- Han-Wei Huang (ORCID: https://orcid.org/0000-0002-6067-1725)
- Cheng‐Tsung Hsiao
Institutions
- National Yang Ming Chiao Tung University (TW)
- Taipei Veterans General Hospital (TW)
- National Cheng Kung University Hospital (TW)
- National Cheng Kung University (TW)
Publication Details
- Journal
- Acta Neurologica Taiwanica
- Published
- 2025-06-11
- DOI
- https://doi.org/10.4103/ant.ant-d-25-00042
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00