Targeted gene(s)/phenotype under study
ATXN2 (OMIM #183090)
Abstract
Spinocerebellar ataxia type 2 (SCA2) is a cerebellar degeneration due to expansions of CAG repeats in ATXN2 that may further expand during meiosis, which gives rise to familial cases with affected children (well-known anticipation phenomenon). Although being known for about 25 years, the clinical involvement in children is far from being fully described. Most young patients have been reported as single cases or familial cases.
We aim at describing/analysing the first clinical series of children with SCA2 to report the full spectrum of the disease. We previously analysed the phenotype and genotype/phenotype correlation of 27 children with SCA7, our article will soon be available (Eur J Neurol).
Until now, we collected 12 children with SCA2 and wish to at least double this number. We will recruit retrospectively and prospectively all children aged 0-15 years old with a proved SCA2. We will collect clinical/radiological/molecular by sending you a table. If you are interested, you can contact either Dr. Maissa Bah or Dr. Cyril Mignot.
Coordinating clinicians/researchers
Dr Cyril Mignot and Dr Maïssa Bah
Contact: cyril.mignot@aphp.fr and bah.maissa@gmail.com
Institution
Département de Génétique
Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière
Paris, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : No
- Resampling of patients : No
- Linked to a translational/basic research project? No