The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease

Matsumura, Ryusuke; Takayanagi, Tetsuya; Fujimoto, Y; Murata, Kayoko; Mano, Yukio; Horikawa, Hirosei; Chuma, Takayo

doi:10.1016/0022-510x(96)00016-0

Cited by 22 publications

(10 citation statements)

References 22 publications

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“…However, length of CAG repeats had no impact on presence of ophthalmoplegia or swallowing diffi-culties. Disease duration greater than 10 years appears to be associated with developing ophthalmoplegia, dysphagia, and amyotrophy [2]. The eye movement abnormalities in our patient mirror those found in the two patients described previously [3,4], with disease duration longer than 10 years.…”

supporting

confidence: 69%

“…There is a negative correlation between the size of the CAG repeat and the age at onset in SCA3/MJD [1]. Absent muscle stretch reflexes and abnormal vibration sense are also more common with smaller numbers of repeats [1,2]. However, length of CAG repeats had no impact on presence of ophthalmoplegia or swallowing diffi-…”

mentioning

confidence: 93%

“…

Machado-Joseph disease (MJD) is an autosomal dominant multisystem degeneration with a wide range of clinical manifestations associated with expansions of trinucleotide repeats [1][2][3][4]. This disorder overlaps with other spinocerebellar ataxias (SCA), and the advent of genetic testing has allowed physicians and geneticists to tease apart these syndromes into definitive entities.

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mentioning

confidence: 99%

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A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

Egan

Camicioli²,

Popovich³

2000

Eur Neurol

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supporting

confidence: 69%

mentioning

confidence: 93%

“…

…”

mentioning

confidence: 99%

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A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

Egan

Camicioli²,

Popovich³

2000

Eur Neurol

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“…Ataxia, however, never occurs in isolation. Numerous other clinical problems reflect progressive dysfunction in the brainstem, oculomotor system, pyramidal and extrapyramidal pathways, lower motor neurons and peripheral nerves (Sequeiros and Coutinho, 1993; Takiyama et al, 1994; Cancel et al, 1995; Sasaki et al, 1995; Durr et al, 1996; Matsumura et al, 1996; Schols et al, 1996; Soong et al, 1997; Zhou et al, 1997; Watanabe et al, 1998; Friedman, 2002; Lin and Soong, 2002; Rub et al, 2002a,b; Rub et al, 2003; Rub et al, 2004a,b; Friedman et al, 2003). Most commonly, affected persons present in the young-adult to mid-adult years with progressive gait imbalance accompanied by vestibular and speech difficulties.…”

Section: Introductionmentioning

confidence: 99%

Machado–Joseph disease/spinocerebellar ataxia type 3

Paulson

2012

Handbook of Clinical Neurology

160

137

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Machado Joseph disease (MJD), also known as Spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable disorder. Like many other dominantly inherited ataxias, MJD/SCA3 shows remarkable clinical heterogeneity, reflecting the underlying genetic defect: an unstable CAG trinucleotide repeat that varies in size among affected persons. This pathogenic repeat in MJD/SCA3 encodes an expanded tract of the amino acid glutamine in the disease protein, which is known as ataxin-3. MJD/SCA3 is one of nine identified polyglutamine neurodegenerative diseases which share features of pathogenesis centered on protein misfolding and accumulation. The specific properties of MJD/SCA3 and its disease protein are discussed in light to what is known about the entire class of polyglutamine diseases.

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“…For determination of the CAG repeat length in the SCA1 and DRPLA genes, the PCR products were electrophoresed on 6% denaturing acrylamide gels and compared with an M13 sequencing ladder according to the previous methods Koide et aL, 1994;Nagafuchi et aL, 1994). For determination of the CAG repeat length in the MJD gene, the PCR products were directly sequenced using an automated DNA sequencer (Applied Biosystems, model 373A) as described (Matsumura et aL, 1996).…”

Section: Familiesmentioning

confidence: 99%

Autosomal dominant cerebellar ataxias in the Kinki area of Japan

et al. 1996

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SummaryThe autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders characterized by slowly progressive cerebellar ataxia. Recently, among the ataxias, spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD) and dentatorubral-pallidoluysian atrophy have been found to be caused by expansion of a CAG trinucleotide repeat in the coding region of the disease genes. We have analyzed the CAG repeats of 67 patients from 47 families with dominantly inherited ataxia who lived in the Kinki area of Japan. The following results were obtained. First, 31 patients from 22 families were found to be positive for the MJD repeat expansion, indicating that MJD is the most common dominantly inherited ataxia in the Kinki area of Japan. Second, no SCA1 repeat expansion was found among the families studied. This presents a striking contrast to the fact that there are many families with SCA1 in Hokkaido and the Tohoku area of Japan. These findings suggest geographic variation in autosomal dominant cerebellar ataxias in Japan.

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The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease

Cited by 22 publications

References 22 publications

A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

A Small 55-Repeat MJD1 CAG Allele in a Patient with Machado-Joseph Disease and Abnormal Eye Movements

Machado–Joseph disease/spinocerebellar ataxia type 3

Autosomal dominant cerebellar ataxias in the Kinki area of Japan

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