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Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease. [PDF]
Mol Neurobiol, 2019 Ashraf NS +6 more
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Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis? [PDF]
Open Neurol J, 2018 Catai LMP +5 more
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Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. [PDF]
Eur J Hum Genet, 2019 Mendes Á +3 more
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Machado-Joseph disease presenting as motor neuron disease
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2008Machado-Joseph disease (MJD) is a spinocerebellar degeneration with a wide phenotypic presentation. A 64-y-old male with a history of gait disability and fasciculations was referred to our unit with the diagnosis of motor neuron disease (MND), which was supported by the presence of upper motor neuron signs and diffuse loss of motor units on ...
Mamede DE CARVALHO, Susana Pinto
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Spinal Cord Damage in Machado-Joseph Disease
Cerebellum, 2014Machado-Joseph disease (SCA3) is the most frequent spinocerebellar ataxia worldwide and characterized by remarkable phenotypic heterogeneity. MRI-based studies in SCA3 focused in the cerebellum and connections, but little is known about cord damage in the disease and its clinical relevance.
Anelyssa D'Abreu +2 more
exaly +3 more sources
Machado-Joseph Disease or Not?
Archives of Neurology, 1991To the Editor. —Eto and coworkers 1 describe 12 patients with a hereditary ataxia they believe most closely resembles spinopontine atrophy as described by Boiler and Segarra 2 in a large Rhode Island kindred, the family W, of English extraction. I have had contact with this family.
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Machado-Joseph-Azorean Disease in India
Archives of Neurology, 1986Machado-Joseph-Azorean (MJA) disease is an autosomal-dominant multisystem motor degeneration (with cerebellar ataxia as an important manifestation) that is seen mainly in people of Portuguese descent. Recently, a family in Japan with probable MJA disease has been described.
N E, Bharucha +2 more
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The peripheral neuropathy in Machado-Joseph disease
Acta Neuropathologica, 1986Peripheral nerve biopsies were taken from 11 patients with Machado-Joseph disease (MJD), a heredo-degenerative disease within the group of autosomal dominant ataxias. On the basis of the clinical symptoms, 2 patients were found to suffer from type I, 4 from type II and 5 from type III. All cases shared the same pathological features, which consisted of
P, Coutinho +3 more
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Clinical neuroscience (New York, N.Y.), 1995
Machado-Joseph disease (MJD) is a form of dominantly-inherited ataxia originally described in people of Azorean and Portuguese descent. The disorder has subsequently been identified in Japan, Brazil, Australia, and China. Average age of onset is 35 to 40.
L, Sudarsky, P, Coutinho
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Machado-Joseph disease (MJD) is a form of dominantly-inherited ataxia originally described in people of Azorean and Portuguese descent. The disorder has subsequently been identified in Japan, Brazil, Australia, and China. Average age of onset is 35 to 40.
L, Sudarsky, P, Coutinho
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Clinical Features of Machado-Joseph Disease
2018Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a hereditary neurodegenerative disease associated with severe clinical manifestations and premature death. Although rare, it is the most common autosomal dominant spinocerebellar ataxia worldwide and has a distinct geographic distribution, reaching peak prevalence in certain ...
Nuno, Mendonça +3 more
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