A case of Machado-Joseph disease presenting with spastic paraparesis.

Kaneko, Atsushi; Narabayashi, Y.; Itokawa, Kaori; Nakazato, Yuki; Hosokawa, Takatoshi; Iwasaki, Shigeo; Ohno, Rika; Hamaguchi, K; Ikeda, Masaki; Nomura, Masami

doi:10.1136/jnnp.62.5.542-a

Cited by 12 publications

(15 citation statements)

References 3 publications

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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%

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Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Moro

Munhoz

Arruda

et al. 2014

Arq. Neuro-Psiquiatr.

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Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method: The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. Results: SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. Conclusion: Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies.Keywords: Machado-Joseph disease, subphenotypes, spinocerebellar ataxia type 3. RESUMOA ataxia espinocerebelar do tipo 3 (AEC3) envolve os sistemas cerebelar, piramidal, extrapiramidal, do neurônio motor e oculomotor, com uma grande heterogeneidade fenotípica, o que nos levou a classificar essa desordem em diferentes subtipos clínicos de acordo com o sistema predominantemente afetado. Método: Nossa série compreende 167 pacientes com AEC3, pertencentes a 68 famílias, avaliados de 1989 a 2013. Esses pacientes foram classificados em 7 diferentes subtipos. Resultados: Os pacientes com AEC3 foram agrupados de acordo com as características clínicas predominantes. As três formas mais comum foram o subfenótipo 2, caracterizado por ataxia e sintomas piramidais, observado em 67,5% dos pacientes, subfenótipo 3 com ataxia e sinais periféricos, em 13,3%, e subfenótipo 6 com síndrome cerebelar pura, em 7,2%. Conclusão: Nosso estudo foi o primeiro a classificar sistematicamente AEC3 em sete subtipos. Esta classificação pode ser particularmente útil para correlacionar fenótipo/genótipo com mais especificidade em futuros estudos.Palavras-chave: doença de Machado-Joseph, subfenótipos, ataxia espinocerebelar tipo 3.

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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: 88%

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Moro

Munhoz

Arruda

et al. 2014

Arq. Neuro-Psiquiatr.

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“…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%

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Bettencourt

Quintáns

Ros³

et al. 2012

Hum. Mutat.

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ABSTRACT:Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling.

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“…After that, Kaneko et al 6 described a new patient with MJD presenting as spastic paraplegia. As in our case there was a great intra-familial phenotypic variability in both two previously reported families.…”

Section: Discussionmentioning

confidence: 99%

Machado-Joseph disease versus hereditary spastic paraplegia: case report

Teive

Iwamoto

Camargo

et al. 2001

Arq. Neuro-Psiquiatr.

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-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 with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.KEY WORDS: spinocerebellar ataxia, Machado-Joseph disease, hereditary spastic paraplegia.Doença de Machado-Joseph LAHIKI paraplegia espástica hereditária: relato de caso RESUMO -A doença de Machado-Joseph (DMJ) é a ataxia espinocerebelar autossômica dominante mais prevalente e apresenta grande variabilidade fenotípica. DMJ apresentando-se com o fenótipo de paraparesia espástica foi recentemente descrita em pacientes japoneses. Relatamos o caso de uma paciente com fenótipo de paraplegia espástica hereditária (PEH) complicada. Seu pai faleceu com 56 anos de uma doença neurológica progressiva que cursava com parkinsonismo. Estudo genético pela técnica de reação em cadeia da polimerase mostrou um alelo de tamanho normal com 22 repetições e um alelo de tamanho expandido com 66 repetições para o tripleto CAG no gene da DMJ. A DMJ deve ser considerada no diagnóstico diferencial das PEH complicadas autossômicas dominantes. Em um paciente com quadro de PEH e outros familiares com fenótipos diferentes de doenças degenerativas deve-se suspeitar de DMJ. PALAVRAS-CHAVE: ataxia espinocerebelar, doença de Machado-Joseph, paraplegia espástica hereditária.

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A case of Machado-Joseph disease presenting with spastic paraparesis.

Abstract: Aids to the examination of the peripheral nervous system. London: Bailliere Tindall (on behalf of the Guarantors of Brain), 1986.

Cited by 12 publications

References 3 publications

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Machado-Joseph disease versus hereditary spastic paraplegia: case report

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