Machado-Joseph disease versus hereditary spastic paraplegia: case report

Teive, Hélio A. Ghizoni; Iwamoto, Fábio M.; Camargo, Carlos Henrique Ferreira; Lopes-Cendes, Íscia; Werneck, Lineü Cesar

doi:10.1590/s0004-282x2001000500030

Cited by 17 publications

(21 citation statements)

References 9 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: 87%

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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“…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%

Clinical features and management of hereditary spastic paraplegia

Faber

Servelhere

Martínez

et al. 2014

Arq. Neuro-Psiquiatr.

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Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions. Keywords: hereditary spastic paraplegia, spastic paraplegia, muscle spasticity, genetics, mutation. RESUMOParaplegias espásticas hereditárias (PEH) constituem um grupo de desordens geneticamente determinadas caracterizadas por espasticidade e paraparesia de progressão insidiosa. Paraplegia espástica aparentemente esporádica de início no adulto constitui problema frequente na prática neurológica. Evidências recentes sugerem que uma proporção significativa destes casos é geneticamente determinada. O grupo das PEH é dividido clinicamente em formas puras e complicadas de acordo com a concomitância de outras manifestações clinicas e neurológicas. Até o momento 60 tipos genéticos foram identificados. Todos os modos de herança monogênica já foram descritos: autossômica dominante, autossômica recessiva, ligada ao X e mitocondrial. Avanços recentes indicam que alterações do transporte axonal estão implicadas na degeneração dos longos axônios motores no sistema nervoso central na PEH. Nesta revisão abordamos recentes avanços na área com ênfase nos aspectos clínicos chave que ajudam o neurologista geral no diagnóstico e manejo correto deste grupo de doenças.Palavras-chave: paraplegia espástica hereditária, paraplegia espástica, espasticidade muscular, genética, mutação.

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Machado-Joseph disease versus hereditary spastic paraplegia: case report

Cited by 17 publications

References 9 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

Clinical features and management of hereditary spastic paraplegia

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