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

N van Alfen; R J Sinke; M J Zwarts; A Gabreëls-Festen; P Praamstra; B P Kremer; M W Horstink

doi:10.1002/ana.1089

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

Ann Neurol. 2001 Jun;49(6):805-7. doi: 10.1002/ana.1089.

Authors

N van Alfen¹, R J Sinke, M J Zwarts, A Gabreëls-Festen, P Praamstra, B P Kremer, M W Horstink

Affiliation

¹ Department of Neurology, University Medical Center, Nijmegen, The Netherlands.

PMID: 11409435
DOI: 10.1002/ana.1089

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.

MeSH terms

Aged
Ataxin-3
Female
Hereditary Sensory and Motor Neuropathy / complications
Hereditary Sensory and Motor Neuropathy / genetics
Hereditary Sensory and Motor Neuropathy / physiopathology
Humans
Machado-Joseph Disease / complications
Machado-Joseph Disease / genetics*
Machado-Joseph Disease / physiopathology*
Male
Middle Aged
Nerve Tissue Proteins / genetics*
Netherlands
Nuclear Proteins
Pedigree
Phenotype
Repressor Proteins
Restless Legs Syndrome / complications
Restless Legs Syndrome / genetics
Restless Legs Syndrome / physiopathology
Trinucleotide Repeat Expansion / genetics*

Substances

Nerve Tissue Proteins
Nuclear Proteins
Repressor Proteins
ATXN3 protein, human
Ataxin-3