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

Autor:	N, van Alfen, R J, Sinke, M J, Zwarts, A, Gabreëls-Festen, P, Praamstra, B P, Kremer, M W, Horstink
Rok vydání:	2001
Předmět:	Male Nuclear Proteins Nerve Tissue Proteins Machado-Joseph Disease Middle Aged Pedigree Repressor Proteins Phenotype Restless Legs Syndrome Humans Female Ataxin-3 Hereditary Sensory and Motor Neuropathy Trinucleotide Repeat Expansion Aged Netherlands
Zdroj:	Annals of neurology. 49(6)
ISSN:	0364-5134
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::bb48d413da3bacc973d27c8a6cb55dbe https://pubmed.ncbi.nlm.nih.gov/11409435 Zobrazit plný text záznamu Plný text