Pure cerebellar ataxia linked to large C9orf72 repeat expansion

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):301-3. doi: 10.3109/21678421.2015.1113298. Epub 2015 Nov 26.

Authors

Philippe Corcia^{1

2}, Patrick Vourc'h^{2

3}, Anne-Marie Guennoc¹, Maria Del Mar Amador⁴, Hélène Blasco^{2

3}, Christian Andres^{2

3}, Philippe Couratier⁵, Paul H Gordon⁶, Vincent Meininger¹

Affiliations

¹ a Centre SLA , CHU Tours .
² b UMR INSERM U930 , Université François-Rabelais de Tours , Tours .
³ c Service de Biochimie et Biologie Moléculaire , CHRU de Tours , Tours .
⁴ f Fédération des Maladies du Système Nerveux , Hôpital de la Salpêtrière , Paris , France.
⁵ d Centre SLA Service de Neurologie , CHU Dupuytren , Limoges , France .
⁶ e Northern Navajo Medical Center , Shiprock , NM , USA , and.

PMID: 26609732
DOI: 10.3109/21678421.2015.1113298

No abstract available

Publication types

Case Reports

MeSH terms

Adult
C9orf72 Protein
Cerebellar Ataxia / diagnostic imaging
Cerebellar Ataxia / genetics*
DNA Repeat Expansion / genetics*
Family Health
Female
Genetic Testing
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Proteins / genetics*

Substances

C9orf72 Protein
C9orf72 protein, human
Proteins