title: Progressive ataxia related to PRRT2 gene mutation.
authors.affiliation: Department of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France. Electronic address: giovanni.castelnovo@chu-nimes.fr.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Castelnovo
authors.affiliation: Department of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France.
authors.forename: Dimitri
authors.initials: D
authors.lastname: Renard
authors.affiliation: Department of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France.
authors.forename: Marie
authors.initials: M
authors.lastname: De Verdal
authors.affiliation: Department of Ophtalmology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France.
authors.forename: JeanJean
authors.initials: J
authors.lastname: Luc
authors.affiliation: Department of Ophtalmology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Thouvenot
authors.affiliation: Department of genetics, Hopital Lariboisiere, APHP Groupe Hospitalier Lariboisiere - Saint Louis - Fernand Widal, 75475 Paris Cedex 10, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Riant
mesh_terms: D000328:Adult; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Hereditary ataxia; PRRT2