| Autor: |
Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2160-8288 |
| DOI: |
10.7916/tohm.v0.641 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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