Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.

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Title: Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.
Authors: Lin PY; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Hsiao CT; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan., Huang HW; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Wu YJ; Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Fu SJ; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan., Lee YC; Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan.; Center for Intelligent Drug Systems and Smart Bio-Devices, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Source: Acta neurologica Taiwanica [Acta Neurol Taiwan] 2026 Jan 01; Vol. 35 (1), pp. 30-35. Date of Electronic Publication: 2025 Jun 11.
Publication Type: Journal Article; Observational Study
Journal Info: Publisher: Wolters Kluwer - Medknow Country of Publication: India NLM ID: 9815355 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1028-768X (Print) Linking ISSN: 1028768X NLM ISO Abbreviation: Acta Neurol Taiwan Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1028-768X
DOI:10.4103/ant.ANT-D-25-00042