Results 121 to 130 of about 4,410 (162)

Intrafamilial variability in Machado‐Joseph disease

Movement Disorders, 1996
AbstractDominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa‐responsive extrapyramidal disease to more purely ataxic syndromes
S H, Subramony, R D, Currier
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Cognitive deficits in Machado‐Josephs disease

Annals of Neurology, 1996
AbstractCognitive function was examined in 6 patients with genetically confirmed Machado‐Joseph disease (MJD) and 15 age‐and ethnically matched controls using a series of subtests from the Cambridge Neuropsychological Test Automated Battery (CANTAB), a touch screen‐based testing system previously validated in a number of movement and neurodegenerative ...
P, Maruff, P, Tyler, T, Burt, B, Currie, C, Burns, J, Currie   +5 more
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Sleep disorders in Machado–Joseph disease

Current Opinion in Psychiatry, 2016
This article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).Pathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum.
José Luiz, Pedroso, Pedro, Braga-Neto, Alberto R M, Martinez, Carlos R, Martins, Flávio M, Rezende Filho, Manoel A, Sobreira-Neto, Lucila B F, Prado, Gilmar F, do Prado, Marcondes C, França, Orlando G P, Barsottini   +9 more
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Machado-Joseph disease and SCA3

Neurology, 1996
Neurology 1996;46:4-8 Based on initial descriptions, Machado-Joseph disease (MJD) was thought to be a distinct clinicopathologic entity. This autosomal dominant disorder was originally described in the Machado family on the Azorean island of San Miguel, [1] in the Thomas family, which had migrated from San Miguel to Massa-chusetts, [2] and in the ...
Larry Junck, John K. Fink
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Animal Models of Machado-Joseph Disease

2018
Animal models are an important tool to study the pathophysiology of Machado-Joseph Disease (MJD). So far, animal models using simple organisms (like the round worm Caenorhabditis elegans or the fruit fly drosophila) but also mammalian models (mouse and even a non-human primate model) have been generated to study MJD.
Jana, Schmidt, Thorsten, Schmidt
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The pathology of Machado-Joseph disease

Acta Neuropathologica, 1982
The clinical and pathological findings in a boy suffering from Machado-Joseph disease are described. The patient was the son of two affected parents and signs first appeared at the age of 8 years. A younger brother also became affected at the age of 7.
P, Coutinho, A, Guimarães, F, Scaravilli   +2 more
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The search for a physiologic marker of Machado‐Joseph disease

Neurology, 1987
Machado-Joseph disease is a dominantly inherited, multisystem, degenerative disorder that lacks a proven genetic marker. Peripheral nerve conduction-refractory period, sensory evoked potentials, and quantified oculomotor recordings were studied in nine patients affected with this disease to look for a potential physiologic marker.
J R, Hotson, E B, Langston, A A, Louis, R N, Rosenberg   +3 more
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The vestibular symptomatology of Machado-Joseph Disease

Journal of Vestibular Research
BACKGROUND: Machado Joseph Disease (MJD) is an autosomal dominant neurodegenerative disease. In previous studies, we described significant bilateral horizontal Vestibulo-Ocular Reflex (VOR) deficit within this population without any reference to the presence of vestibular symptomatology.
Zohar, Elyoseph, Dario, Geisinger, Roy, Zaltzman, Matti, Mintz, Carlos R, Gordon   +4 more
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Machado-Joseph Disease in an American-Italian Family

Journal of Neurogenetics, 1984
An American-Italian family is described as affected by an autosomal dominant inherited ataxia which meets the clinical diagnostic criteria for Machado-Joseph disease. This disorder no longer appears to be limited to individuals of known Portuguese ancestry.
I R, Livingstone, J, Sequeiros
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Recent therapeutic prospects for Machado–Joseph disease

Current Opinion in Neurology, 2020
Purpose of review Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a fatal, dominantly inherited, neurodegenerative disease caused by expansion of a CAG repeat in the coding region of the ATXN3 gene. No disease-modifying treatment is yet available for MJD/SCA3.
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