Results 161 to 170 of about 5,061 (184)

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
openaire   +2 more sources

Machado-Joseph disease presenting as motor neuron disease

Amyotrophic Lateral Sclerosis, 2008
Machado-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 ...
Susana, Pinto, Mamede, De Carvalho
openaire   +2 more sources

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
openaire   +1 more source

Lower limb tremor in Machado-Joseph disease

Neurology, 1998
Machado-Joseph disease (MJD), one of the autosomal dominant hereditary cerebellar ataxias, exhibits several clinical features including ataxia, pyramidal signs and symptoms, abnormal eye movement, amyotrophy, and several types of involuntary movement.
C, Ishida, K, Sakajiri, H, Yoshikawa, Y, Sakashita, S, Okino, K, Yamaguchi, M, Takamori   +6 more
openaire   +2 more sources

Spinal Cord Damage in Machado-Joseph Disease

The Cerebellum, 2014
Machado-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.
Camila N, Fahl, Lucas Melo T, Branco, Felipe P G, Bergo, Anelyssa, D'Abreu, Iscia, Lopes-Cendes, Marcondes C, França   +5 more
openaire   +2 more sources

Machado–Joseph disease in three Scandinavian families

Journal of the Neurological Sciences, 1998
Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et al. (1994) cloned the MJD1 gene on chromosome 14 and MJD
Løkkegaard, Thomas, Nielsen, J.E., Hasholt, Lis, Fenger, Kirsten, Werdelin, L., Tranebjærg, Lisbeth, Lauritzen, Martin, Colding-Jørgensen, Eskild, Grønbech-Jensen, M., Henriksen, O.A., Sørensen, Sven Asger   +10 more
openaire   +3 more sources

Machado-Joseph-Azorean Disease

Archives of Neurology, 1984
In a ten-year study of Machado-Joseph-Azorean disease (MJAD), three distinct syndromes emerged: ataxia syndrome (11 patients), ataxia-motor neuron-extrapyramidal syndrome (four), and ataxia-motor neuron-extrapyramidal syndrome (two). Three patients had such advanced disease that classification was not possible.
openaire   +2 more sources

The peripheral neuropathy in Machado-Joseph disease

Acta Neuropathologica, 1986
Peripheral 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, A, Guimarães, M M, Pires, F, Scaravilli   +3 more
openaire   +2 more sources

Excessive fragmentary myoclonus in Machado–Joseph disease

Sleep Medicine, 2014
Machado-Joseph disease (MJD) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and other extracerebellar features, such as Parkinsonism, dystonia, peripheral neuropathy, and lower motor neuron disease.
Diogo Fernandes, dos Santos, José Luiz, Pedroso, Pedro, Braga-Neto, Giselle Melo Fontes, Silva, Luciane Bizari Coin, de Carvalho, Lucila B F, Prado, Orlando Graziani P, Barsottini, Gilmar Fernandes, do Prado   +7 more
openaire   +2 more sources

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.
openaire   +2 more sources