A 22-year-old male of Portuguese Azorean descent, presenting at age 16 years with postural instability and falls and developing severe generalized dystonia by age 20 years, is reported from the Center for Research in Neurodegenerative Diseases ...
J Gordon Millichap
doaj +7 more sources
The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie ...
J Gordon Millichap
doaj +2 more sources
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. [PDF]
Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of
Clévio Nóbrega +5 more
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Disartria e doença de Machado-Joseph: relato de caso Dysarthria in Machado-Joseph disease: case report [PDF]
O objetivo deste estudo foi descrever os principais aspectos fonoaudiológicos relacionados à fala na doença de Machado-Joseph, em um indivíduo do sexo masculino, selecionado entre outros pacientes portadores desta doença com limitações significativas de ...
Angela Ruviaro Busanello +2 more
doaj +2 more sources
Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease [PDF]
CONTEXT: In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy.
Sabrina Mello Alves Corrêa +4 more
doaj +2 more sources
Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report [PDF]
Introduction Chronic pain is a common problem for patients with Machado-Joseph disease. Most of the chronic pain in Machado-Joseph disease has been reported to be of musculoskeletal origin, but now there seems to be different chronic pain in patients ...
Lee Yi-Chung +3 more
doaj +3 more sources
Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia [PDF]
Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease.
José Luiz Pedroso +3 more
doaj +2 more sources
Sleep Disorders In Machado-joseph Disease
Purpose of reviewThis article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).Recent findingsPathological studies have clearly demonstrated that degenerative process in ...
Lucila B. F.; do Prado +10 more
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Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease [PDF]
Background Machado-Joseph disease is the most common autosomal dominant hereditary ataxia worldwide without effective treatment. Mesenchymal stem cells (MSCs) could slow the disease progression, but side effects limited their clinical application ...
Hua-Jing You +11 more
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Multiple sclerosis coinciding with Machado-Joseph disease.
Although inflammatory demyelination is considered to be the key feature in multiple sclerosis (MS) pathogenesis, histopathological investigations and MRI studies recently highlighted the extent of neuronal damage that occurs even in the early stages of ...
Röhl, JE;Lünemann, JD;Zimmer, C;Zschenderlein, R;Valdueza, JM
core +3 more sources

