The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating <scp>FGF14</scp> Variant in a Turkish Patient
Biallelic loss-of-function variants in FGF14 are a rare cause of inherited cerebellar ataxia and expand the current genetic spectrum of ATX-FGF14. © 2024 International Parkinson and Movement Disorder Society.
Authors
- A. Nazlı Başak (ORCID: https://orcid.org/0000-0001-6977-2517)
- Şeyma Tekgül (ORCID: https://orcid.org/0000-0001-5223-5627)
- David Pellerin (ORCID: https://orcid.org/0000-0002-5807-995X)
- Ahmet Yeşilyurt
- Tuğçe Gül (ORCID: https://orcid.org/0000-0002-1818-9839)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Bernard Brais
- Stephan Züchner (ORCID: https://orcid.org/0000-0001-5669-7415)
- Н. В. Смолина
- Dilşad Türkdoğan
Institutions
- Montreal Neurological Institute and Hospital (CA)
- Koç University (TR)
- University of Miami (US)
- Acıbadem University (TR)
- Dr. John T. Macdonald Foundation (US)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- McGill University (CA)
- Marmara University (TR)
Publication Details
- Journal
- Movement Disorders
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1002/mds.30087
- Citations
- 2
- Primary Topic
- Fibroblast Growth Factor Research
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Wellcome Trust
- University College London Hospitals NHS Foundation Trust
- Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi
- National Institutes of Health
- Canadian Institutes of Health Research
- Medical Research Council
- UCLH Biomedical Research Centre