Machado-Joseph Disease/diagnosis
Improvement in the molecular diagnosis of Machado-Joseph disease
... The proband’s oldest son (V:4, born in 1952) was also affected, with difficulty walking since 32 years of age, followed 2 years later by dysarthria and diplopia. At 45 years of age, with 13 years of evolution of the ...
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Repositorio ISMT: Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I
... The diagnosis of a serious disease such as FAP- I is experienced, by gene carriers and patients, as a significant ...the disease and as a consequence (iv) most of them fail to ask for psychological ...
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Machado-Joseph Disease in the context of the person/family that experiences it: daily changes and future expectations Doença de Machado-Joseph no contexto da pessoa/família que a vivencia: alterações cotidianas e expectativas futuras
... the disease, which is physiotherapy and take the ...the diagnosis of MJD in his brother, he has sought to research the disease in search of novelty about the ...the disease too, because all ...
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Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias
... in Machado-Joseph disease: relation with dis- ease duration, subtypes, and ...JL. Diagnosis at a first glance? “Bulging eyes” as a clue for a more accurate diagnosis in spinocerebellar ...
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Repositorio ISMT: The Perceived Advantages and Disadvantages of Presymptomatic Testing for Machado-Joseph Disease: Development of a New Self-Response Inventory
... In interpreting the results of our study, cer- tain limitations should be well thought-out. First, al- though individuals could self-refer to the study, all of them were recruited through proactive methods, according to ...
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Development of triplet repeat primed PCR (TP-PCR) technique as a support of molecular test in Machado-Joseph disease
... 16 SCAs (de Castilhos et al., 2014; Ruano et al., 2014). MJD presents a high prevalence in Portugal, especially in Azores with a cluster in Flores Island, where the prevalence is 1 per 146 individuals (Araújo, 2012). ...
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A família Drew de Walworth: um século após a avaliação inicial finalmente o diagnóstico doença de Machado-Joseph.
... ABSTRACT - Autosomal dominant spinocerebellar ataxia (SCA) is an heterogeneous group of neurodege- nerative diseases involving cerebellum and its connections. Several forms have already been described, and it seems the ...
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Doença de Machado-Joseph : da teoria à prática clínica : a propósito de um caso clínico
... Para a investigação bibliográfica foi utilizado o motor de busca “PubMed”, com a análise de artigos limitados ao período de anos entre 1965 e 2011 e às línguas Inglesa e Francesa, utilizando os termos ...
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Disartria e doença de Machado-Joseph: relato de caso.
... of Machado-Joseph disease in a male patient with this diagnosis, selected among others with the same disease that received treatment at the Speech-Language Pathology and Audiology ...
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Insights into pathology and neurodegeneration features in a transgenic mouse model of Machado-Joseph disease
... differential diagnosis among the vast group of spinocerebellar ...the disease is related to the age of onset, an earlier onset being associated with a more severe and rapidly progressive form of the ...
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Cerebrovascular and Blood-Brain Barrier Impairments in Machado-Joseph Disease
... heterogeneous disease affecting various ...to diagnosis are progressive cerebellar ataxia, pyramidal signs associated with extrapyramidal signs or peripheral amyotrophy, with gait and limb ataxia being the ...
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Neuropathologic study of a transgenic mouse model of Machado-Joseph disease
... clinical diagnosis of MJD such as external progressive ophthalmoplegia, dystonia, intention fasciculation-like movements of facial and lingual muscles, as well as lid retraction, originating the aspect of “bulging ...
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Arq. NeuroPsiquiatr. vol.75 número10
... the disease, further classifying it into subtypes, which helped improve the diagnosis and prognosis of this dis- order 1,3 ...name Machado-Joseph ...
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Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease
... Expanded ATX3 tends to accumulate in the cell nucleus and several studies suggest that these accumulating proteins cause transcription dysregulation through aber- rant protein-protein interactions (1). It has been demon- ...
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Validation of neuronal inclusions as a biomarker for pre-clinical trials in a mouse model of Machado-Joseph disease
... Deregulation of transcription due to the alteration of histone acetylation and deacetylation provided the rational for testing therapeutic effects of Valproic acid (VPA) in CMVMJD135 mouse. Results from our IHC analysis ...
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ANALISE GENÉTICA DAS CAUSAS DA VARIAÇÃO FENOTÍPICA NA DOENÇA DE MACHADO-JOSEPH
... Por vezes nota-se que houve uma preocupação com o significado do nome original, outras com a sua pronúncia. Outras vezes ainda a vontade de evitar erros na escrita do novo nome parece ter conduzido a uma adulteração sem ...
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Doença de Machado-Joseph : análise da região 3'UTR do gene ATXN3
... de Machado-Joseph (DMJ), também denominada ataxia espinocerebelosa do tipo 3 (SCA3), é uma doença neurodegenerativa de início tardio (média 40,2 anos), transmitida de um modo autossómico ...
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Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
... rare disease, except for the area of the Tejo Valley (1: 1000) (Bettencourt & Lima, 2011); signs of cerebellar ataxia, progressive external ophthalmoplegia and pyramidal signs are reported (Coutinho, 1996; ...
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Modificadores genéticos da instabilidade da repetição (CAG)n na doença de Machado-Joseph/Ataxia Espinocerebelosa do Tipo 3
... Para a análise da instabilidade somática, após o cálculo dos genótipos obtidos por AF, foi calculada a diferença entre o tamanho da repetição CAG obtido a partir do DNA extraído da[r] ...
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Escala de aceitação do teste pré-sintomático: Estudo de validação com uma amostra de pessoas em risco para a doença de Machado-Joseph
... Dado que a fiabilidade é um pré-requisito essencial para a validade de um teste, começámos por avaliar a consistência interna da EATP, procedendo à avaliação do grau de homogeneidade das[r] ...
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