A mother and her two daughters with presumed dominantly inherited, non-progressive, congenital cerebellar ataxia are reported. Magnetic resonance unaging revealed vermal hypoplasia in one case, and generalized hypoplasia of the cerebellum, predominating at the vermal level, in another case. These patients are identical to those previously published, except for a slowly progressive improvement of motor abilities observed during evolution.
机构:
Hop Lariboisiere, AP HP, CMRR Paris Nord, Paris, France
Univ Paris Diderot, INSERM, U942, Sorbonne Paris Cite,UMRS 942, Paris, FranceRouen Univ Hosp, Dept Neurol, Rouen, France
Paquet, Claire
Campion, Dominique
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Rouen Univ Hosp, CNR MAJ, Rouen, France
Univ Rouen, Normandy Univ, Normandy Ctr Genom Med & Personalized Med, IRIB,Inserm U1079, Rouen, FranceRouen Univ Hosp, Dept Neurol, Rouen, France
Campion, Dominique
Hannequin, Didier
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Rouen Univ Hosp, Dept Neurol, Rouen, France
Rouen Univ Hosp, Dept Genet, Rouen, France
Rouen Univ Hosp, CNR MAJ, Rouen, FranceRouen Univ Hosp, Dept Neurol, Rouen, France