Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
Copyright policy )Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype.
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.
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- Radboud University Nijmegen Medical Centre Netherlands
- Radboud University Nijmegen Netherlands
- University of Groningen Netherlands
Male, Nuclear Proteins, Pathofysiologie van Hersenen en Gedrag, Nerve Tissue Proteins, Machado-Joseph Disease, Pathophysiology of Brain and Behaviour, Middle Aged, Pedigree, Repressor Proteins, Phenotype, Restless Legs Syndrome, Humans, Female, Ataxin-3, Hereditary Sensory and Motor Neuropathy, Trinucleotide Repeat Expansion, Aged, Netherlands
Male, Nuclear Proteins, Pathofysiologie van Hersenen en Gedrag, Nerve Tissue Proteins, Machado-Joseph Disease, Pathophysiology of Brain and Behaviour, Middle Aged, Pedigree, Repressor Proteins, Phenotype, Restless Legs Syndrome, Humans, Female, Ataxin-3, Hereditary Sensory and Motor Neuropathy, Trinucleotide Repeat Expansion, Aged, Netherlands
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