Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.
Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.
From Hôpital Erasme (C.D., N.S., R.v.H., M.A., M.P.), Université Libre de Bruxelles (C.D., S.D., M.R., M.P.); and Algemeen Ziekenhuis Sint-Jan (M.D.), Brugge, Belgium.
Chantal
C
Depondt
Simona
S
Donatello
Nicolas
N
Simonis
Myriam
M
Rai
Roxane
R
van Heurck
Marc
M
Abramowicz
Marc
M
D'Hooghe
Massimo
M
Pandolfo
D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
C467728:STUB1 protein, human; D044767:Ubiquitin-Protein Ligases