Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

Authors
van Alfen, N Sinke, RJ Zwarts, MJ Gabreels-Festen, A Praamstra, P Kremer, BPH Horstink, MWIM
Citation
N. Van Alfen et al., Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype, ANN NEUROL, 49(6), 2001, pp. 805-807
Citations number
18
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
49
Issue
6
Year of publication
2001
Pages
805 - 807
Database
ISI
SICI code
0364-5134(200106)49:6<805:ICRL(F>2.0.ZU;2-H
Abstract
We report on a Dutch family in which 4 members in 2 generations have interm ediate repeat lengths (53 and 54) for Machado-Joseph Disease/ Spinocerebell ar Ataxia (MJD/SCA3). All but the youngest have a restless legs syndrome wi th fasciculations and a sensorimotor axonal polyneuropathy. Central neurolo gical abnormalities are only present in 2. This family shows that intermedi ate repeat lengths can be pathogenic and may predispose for restless legs a nd peripheral nerve disorder.