title: Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
abstract: We report on a Dutch family in which 4 members in 2 generations have intermediate repeat lengths (53 and 54) for Machado-Joseph Disease/Spinocerebellar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome with fasciculations and a sensorimotor axonal polyneuropathy. Central neurological abnormalities are only present in 2. This family shows that intermediate repeat lengths can be pathogenic and may predispose for restless legs and peripheral nerve disorder.
authors.affiliation: Department of Neurology, University Medical Center, Nijmegen, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: van Alfen
authors.forename: R J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: M J
authors.initials: MJ
authors.lastname: Zwarts
authors.forename: A
authors.initials: A
authors.lastname: Gabreëls-Festen
authors.forename: P
authors.initials: P
authors.lastname: Praamstra
authors.forename: B P
authors.initials: BP
authors.lastname: Kremer
authors.forename: M W
authors.initials: MW
authors.lastname: Horstink
mesh_terms: D000368:Aged; D000067699:Ataxin-3; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D017827:Machado-Joseph Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009426:Netherlands; D009687:Nuclear Proteins; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins; D012148:Restless Legs Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3