Paroxysmal dyskinesia: When a PRRT2 variant hides a curable cause

Archive ouverte | Schneider, V. | CCSD

Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism

Archive ouverte | Wirth, Thomas | CCSD

BACKGROUND: The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. OBJ...

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Archive ouverte | Montaut, Solveig | CCSD

OBJECTIVE: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogen...