Novel mutation in KIF5A gene associated with hereditary motor and sensory neuropathy and cognitive impairment: a case report and literature review

Acta Neurol Belg. 2023 Dec;123(6):2375-2377. doi: 10.1007/s13760-023-02199-w. Epub 2023 Jan 25.

Authors

Uichan Hong¹, Jinsik Lee¹, Seohee Choi¹, Woori Jang², Soonwook Kwon³

Affiliations

¹ Department of Neurology, Inha University Hospital, 27 Inhang-Ro, Jung-Gu, Incheon, 22332, Korea.
² Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, Korea.
³ Department of Neurology, Inha University Hospital, 27 Inhang-Ro, Jung-Gu, Incheon, 22332, Korea. ksw_ever@naver.com.

PMID: 36696008
DOI: 10.1007/s13760-023-02199-w

No abstract available

Publication types

Review
Case Reports
Letter

MeSH terms

Charcot-Marie-Tooth Disease* / genetics
Cognitive Dysfunction* / genetics
Hereditary Sensory and Motor Neuropathy*
Humans
Kinesins / genetics
Mutation / genetics

Substances

KIF5A protein, human
Kinesins