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
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Aged
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Ataxin-3
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Female
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Hereditary Sensory and Motor Neuropathy / complications
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Hereditary Sensory and Motor Neuropathy / genetics
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Hereditary Sensory and Motor Neuropathy / physiopathology
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Humans
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Machado-Joseph Disease / complications
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Machado-Joseph Disease / genetics*
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Machado-Joseph Disease / physiopathology*
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Male
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Middle Aged
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Nerve Tissue Proteins / genetics*
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Netherlands
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Nuclear Proteins
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Pedigree
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Phenotype
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Repressor Proteins
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Restless Legs Syndrome / complications
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Restless Legs Syndrome / genetics
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Restless Legs Syndrome / physiopathology
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Trinucleotide Repeat Expansion / genetics*
Substances
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Nerve Tissue Proteins
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Nuclear Proteins
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Repressor Proteins
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ATXN3 protein, human
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Ataxin-3