Back to Search
Start Over
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
- Source :
- Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
- Publication Year :
- 2019
- Publisher :
- Ubiquity Press, 2019.
-
Abstract
- Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous KIF1C variant in both patients. Discussion: KIF1C variants can manifest as a complex movement disorder with cerebellar ataxia and dystonic tremor. KIF1C variants may also cause a hypomyelinating leukoencephalopathy.
Details
- Language :
- English
- ISSN :
- 21608288
- Volume :
- 9
- Issue :
- 0
- Database :
- Directory of Open Access Journals
- Journal :
- Tremor and Other Hyperkinetic Movements
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.5ae91c4916e48d8b9c2cb4b79ca94dc
- Document Type :
- article
- Full Text :
- https://doi.org/10.7916/tohm.v0.641