Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype

Acta Neurol Belg. 2024 Jun;124(3):1049-1050. doi: 10.1007/s13760-023-02437-1. Epub 2023 Nov 17.

Authors

Rohan Mahale¹, Hansashree Padmanabha², Pooja Mailankody², Mathuranath Pavagada²

Affiliations

¹ Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India. rohanmahale83@gmail.com.
² Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.

PMID: 37976028
DOI: 10.1007/s13760-023-02437-1

No abstract available

Keywords: Cerebellar ataxia; KIF1C gene; SPG58; Spastic paraplegia.

Publication types

Letter
Case Reports

MeSH terms

Age of Onset
Female
Humans
Intellectual Disability
Kinesins* / genetics
Male
Middle Aged
Muscle Spasticity / genetics
Mutation* / genetics
Optic Atrophy
Phenotype*
Spinocerebellar Ataxias / diagnostic imaging
Spinocerebellar Ataxias / genetics

Substances

Kinesins
KIF1C protein, human

Supplementary concepts

Spastic Ataxia