Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

Schaik, Ivo N. van; Jöbsis, G. Joost; Vermeulen, Marion; Keizers, H; Bolhuis, P. A.; Visser, M. de

doi:10.1136/jnnp.63.4.534

Cited by 28 publications

(18 citation statements)

References 14 publications

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“…Distal axonal neuropathies have been found in patients with MJD, either electrophysiologically or histopathologically [9, 11, 12, 14, 15, 16, 17, 18]. Coutinho et al [9]found a reduction in density of myelinated and unmyelinated fibers, an increase in endoneurial collagen and the loss of large myelinated fibers in their cases.…”

Section: Discussionmentioning

confidence: 99%

Peripheral Neuropathy of Machado-Joseph Disease in Taiwan: A Morphometric and Genetic Study

Lin¹,

Soong²

2002

Eur Neurol

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Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and peripheral neuropathy. Presented here are 5 MJD cases. A morphometric analysis of the histopathology of their sural nerves was carried out to know the relationship between axon size and myelin thickness. MJD cases were identified by polymerase chain reaction. On the basis of the clinical symptoms, there was 1 type I, 2 type II and 2 type III patients. The sural nerves were biopsied for single-fiber, ultrastructural and morphometric analysis. Morphometric parameters such as fiber and axon sizes, myelin thickness and g ratio (axon diameter:fiber diameter) were estimated. The pathological features of the sural nerves in the 2 type III and 1 of the type II patients revealed a loss of myelinated and unmyelinated fibers, and the morphometry studies showed a decreased fiber density, the loss of large myelinated fibers, a smaller size of the axons with thinner myelin sheaths and an increased percentage of myelinated fibers with a g ratio (axon diameter:fiber diameter) above 0.7. However, only subtle pathological changes were noted in the type I patient and the remaining type II patient. Our findings suggested that there is a loss of large myelinated fibers and distal axonopathy with relative hypomyelination in the neuropathy of patients with MJD.

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Section: Discussionmentioning

confidence: 99%

Peripheral Neuropathy of Machado-Joseph Disease in Taiwan: A Morphometric and Genetic Study

Lin¹,

Soong²

2002

Eur Neurol

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“…72,73 Only few expansions exceed 100 repeat units and are associated with infantile cases in SCA2 74 and SCA7. [75][76][77][78] Usually, normal and expanded alleles carry uninterrupted CAG repeats and there is no overlap between the normal and pathological range.…”

Section: 71mentioning

confidence: 99%

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

2000

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Major advances have been made in the understanding of autosomal dominant cerebellar ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine genes, six of which have been identified, involved in this clinically diverse group of disorders highlighted their great genetic heterogeneity. Evidence is now accumulating that, except for SCA8, the same molecular and physiopathological processes underlie these diseases and other neurodegenerative disorders sharing the same mutational basis, the expansion of a (CAG)n-polyglutamine coding sequence. The clinical overlap among the different genetic entities makes prediction of the molecular origin impossible in a single patient so that molecular characterisation is necessary. However, extended clinical and neuropathological comparisons have shown that each genetic entity has a characteristic constellation of signs and symptoms that are related to CAG repeat size and disease duration. The combined genetic and clinical information form the basis of a new classification that will aid better understanding of disease evolution, assure follow up and permit genetic counselling by the clinician.

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“…The clinical overlap between MJD and complicated HSP is extensive since both entities can present spastic paraparesis, extrapyramidal dysfunction, amyotrophy, dementia, ataxia and cerebellar signs, and peripheral neuropathy 9,10 .…”

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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Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

Cited by 28 publications

References 14 publications

Peripheral Neuropathy of Machado-Joseph Disease in Taiwan: A Morphometric and Genetic Study

Peripheral Neuropathy of Machado-Joseph Disease in Taiwan: A Morphometric and Genetic Study

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

Machado-Joseph disease versus hereditary spastic paraplegia: case report

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