Reduced Age‐Dependent Penetrance of a Large <scp><i>FGF14</i> GAA</scp> Repeat Expansion in a 74‐Year‐Old Woman from a German Family with <scp>SCA27B</scp>-Reference-Cited by-同舟云学术

Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27B

Published:2024-07 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Pellerin David¹²^ORCID,Seemann Jens³⁴,Traschütz Andreas⁵⁶^ORCID,Brais Bernard¹⁷⁸,Ilg Winfried³⁴^ORCID,Synofzik Matthis⁵⁶^ORCID

Affiliation:

1. Department of Neurology and Neurosurgery Montreal Neurological Hospital and Institute, McGill University Montreal Quebec Canada

2. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London London UK

3. Section Computational Sensomotrics Hertie Institute for Clinical Brain Research Tübingen Germany

4. Centre for Integrative Neuroscience (CIN) Tübingen Germany

5. Division Translational Genomics of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen Tübingen Germany

6. German Center for Neurodegenerative Diseases (DZNE) Tübingen Germany

7. Department of Human Genetics McGill University Montreal Quebec Canada

8. Centre de Réadaptation Lucie‐Bruneau Montreal Quebec Canada

Funder

Deutsche Forschungsgemeinschaft

Canadian Institutes of Health Research

Publisher

Wiley

Reference11 articles.

1. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

2. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

3. As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

4. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

5. The preclinical stage of spinocerebellar ataxias