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

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

Research output: Contribution to journal › Article › Academic › peer-review

86 Citations (Scopus)

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.

Original language	English
Pages (from-to)	805-7
Number of pages	3
Journal	Annals of Neurology
Volume	49
Issue number	6
DOIs	https://doi.org/10.1002/ana.1089
Publication status	Published - Jun-2001

Keywords

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

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

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.",

keywords = "Aged, Female, Hereditary Sensory and Motor Neuropathy, Humans, Machado-Joseph Disease, Male, Middle Aged, Nerve Tissue Proteins, Netherlands, Nuclear Proteins, Pedigree, Phenotype, Repressor Proteins, Restless Legs Syndrome, Trinucleotide Repeat Expansion",

author = "\{van Alfen\}, N and Sinke, \{R J\} and Zwarts, \{M J\} and A Gabre{\"e}ls-Festen and P Praamstra and Kremer, \{B P\} and Horstink, \{M W\}",

year = "2001",

month = jun,

doi = "10.1002/ana.1089",

language = "English",

volume = "49",

pages = "805--7",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

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T1 - Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

AU - van Alfen, N

AU - Sinke, R J

AU - Zwarts, M J

AU - Gabreëls-Festen, A

AU - Praamstra, P

AU - Kremer, B P

AU - Horstink, M W

PY - 2001/6

Y1 - 2001/6

N2 - 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.

AB - 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.

KW - Aged

KW - Female

KW - Hereditary Sensory and Motor Neuropathy

KW - Humans

KW - Machado-Joseph Disease

KW - Male

KW - Middle Aged

KW - Nerve Tissue Proteins

KW - Netherlands

KW - Nuclear Proteins

KW - Pedigree

KW - Phenotype

KW - Repressor Proteins

KW - Restless Legs Syndrome

KW - Trinucleotide Repeat Expansion

U2 - 10.1002/ana.1089

DO - 10.1002/ana.1089

M3 - Article

C2 - 11409435

SN - 0364-5134

VL - 49

SP - 805

EP - 807

JO - Annals of Neurology

JF - Annals of Neurology

IS - 6

ER -

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

Abstract

Keywords

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