2001
DOI: 10.1590/s0004-282x2001000500030
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Machado-Joseph disease versus hereditary spastic paraplegia: case report

Abstract: -Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele w… Show more

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Cited by 17 publications
(21 citation statements)
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“…Sakai and Kawakami first reported two siblings, whose parents suffered from Parkinson's disease and SCA3 respectively, which presented spastic paraplegia at the very onset. So far, a few subtype 5 families have been reported 15,16,17,24,25 . Wang et al 25 investigated the incidence of mutation in the SCA3 gene among patients clinically diagnosed as spastic paraplegia.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Sakai and Kawakami first reported two siblings, whose parents suffered from Parkinson's disease and SCA3 respectively, which presented spastic paraplegia at the very onset. So far, a few subtype 5 families have been reported 15,16,17,24,25 . Wang et al 25 investigated the incidence of mutation in the SCA3 gene among patients clinically diagnosed as spastic paraplegia.…”
Section: Discussionmentioning
confidence: 99%
“…Also, Sakai reported two Japanese siblings which originally presented spastic paraparesis 15 . Subsequently, Kaneko et al 16 and Teive et al 17 found similar families, suggesting this to be a fifth subtype. In 1996, Ishikawa et al 18 described a patient presenting with pure cerebellar ataxia (type 6).…”
mentioning
confidence: 87%
“…Additional reports of families with different origins, namely, Japanese [Kaneko et al, 1997], German [Landau et al, 2000], Brazilian [Teive et al, 2001], and Chinese [Gan et al, 2009], clinically diagnosed with HSP, but presenting an expanded allele at the MJD locus (66-86 CAG repeats), were subsequently described. Moreover, the screening of the MJD mutation in a larger Chinese series of AD-HSP patients , revealed that expanded ATXN3 alleles (64-81 CAG repeats) were responsible for the disease in 13% of the studied AD-HSP families.…”
Section: Machado-joseph Disease/spinocerebellar Ataxia Typementioning
confidence: 99%
“…Motor neuron disease, spinocerebellar ataxias, and neurodegeneration with brain-iron accumulation are conditions that may show clinical overlap with HSP 33 . Spinocerebellar ataxia type 3, also named Machado-Joseph disease, is the most common autosomal dominant spinocerebellar ataxia, and has been previously highlighted as a differential diagnosis for complicated HSP in Brazil 34 .…”
Section: Gene Unknown 11q13mentioning
confidence: 99%