Results 1 to 10 of about 6,842,995 (191)

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado–Joseph Disease Presenting as Charcot–Marie–Tooth Disease: A Case Report [PDF]

Clinical Case Reports
We report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia.
Enoch Chi Ngai Lim, Chi Eung Danforn Lim
doaj   +4 more sources

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]

Journal of Translational Medicine, 2020
Background Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Magda M. Santana, Susana Paixão, Janete Cunha-Santos, Teresa Pereira Silva, Allyson Trevino-Garcia, Laetitia S. Gaspar, Clévio Nóbrega, Rui Jorge Nobre, Cláudia Cavadas, Hagar Greif, Luís Pereira de Almeida   +10 more
doaj   +4 more sources

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease [PDF]

Cells, 2023
Machado-Joseph disease (MJD) is a dominant neurodegenerative disease caused by an expanded CAG repeat in the ATXN3 gene encoding the ataxin-3 protein. Several cellular processes, including transcription and apoptosis, are disrupted in MJD.
Ana F. Ferreira, Mafalda Raposo, Emily D. Shaw, Naila S. Ashraf, Filipa Medeiros, Maria de Fátima Brilhante, Matthew Perkins, João Vasconcelos, Teresa Kay, Maria do Carmo Costa, Manuela Lima   +10 more
doaj   +2 more sources

Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3) [PDF]

American Journal of Ophthalmology Case Reports, 2022
Purpose: To describe a case of incomitant divergence insufficiency esotropia in the setting of Machado-Joseph disease (spinocerebellar ataxia type 3) that recurred completely within one week after augmented bilateral medial rectus recession. Observations:
Jeannette Y. Stallworth, Nailyn Rasool, Maanasa Indaram   +2 more
doaj   +2 more sources

The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research [PDF]

Biomedicines, 2023
Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal ...
Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão, Filipa Medeiros, Luís Teves, Carlos Gonzalez, João Lemos, Paula Pires, Pedro Lopes, David Valverde, José Gonzalez, Teresa Kay, João Vasconcelos   +14 more
doaj   +2 more sources

Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease [PDF]

Acta Neuropathologica Communications, 2022
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. Magnetic Resonance Imaging (MRI) and Proton Magnetic Resonance Spectroscopy (1H-MRS) provide promising non-invasive diagnostic and ...
Catarina Oliveira Miranda, Rui Jorge Nobre, Vitor Hugo Paiva, João Valente Duarte, João Castelhano, Lorena Itatí Petrella, José Sereno, Magda Santana, Sónia Afonso, Cristina Januário, Miguel Castelo-Branco, Luís Pereira de Almeida   +11 more
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Profiling Microglia in a Mouse Model of Machado–Joseph Disease [PDF]

Biomedicines, 2022
Microglia have been increasingly implicated in neurodegenerative diseases (NDs), and specific disease associated microglia (DAM) profiles have been defined for several of these NDs.
Ana Bela Campos, Sara Duarte-Silva, Bruno Fernandes, Sofia Pereira das Neves, Fernanda Marques, Andreia Teixeira-Castro, Andreia Neves-Carvalho, Daniela Monteiro-Fernandes, Camila Cabral Portugal, Renato Socodato, Teresa Summavielle, António Francisco Ambrósio, João Bettencourt Relvas, Patrícia Maciel   +13 more
doaj   +2 more sources

Neuropeptide Y (NPY) intranasal delivery alleviates Machado–Joseph disease [PDF]

Scientific Reports, 2021
Machado–Joseph disease (MJD) is the most common dominantly-inherited ataxia worldwide with no effective treatment to prevent, stop or alleviate its progression. Neuropeptide Y (NPY) is a neuroprotective agent widely expressed in the mammalian brain.
Joana Duarte-Neves, Cláudia Cavadas, Luís Pereira de Almeida   +2 more
doaj   +2 more sources

Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease [PDF]

Frontiers in Molecular Neuroscience, 2023
Lysine residues are one of the main sites for posttranslational modifications of proteins, and lysine ubiquitination of the Machado-Joseph disease protein ataxin-3 is implicated in its cellular function and polyglutamine expansion-dependent toxicity ...
Priscila Pereira Sena, Jonasz Jeremiasz Weber, Jonasz Jeremiasz Weber, Sercan Bayezit, Rafael Saup, Rana Dilara Incebacak Eltemur, Rana Dilara Incebacak Eltemur, Xiaoling Li, Ana Velic, Jaqueline Jung, Boris Macek, Huu Phuc Nguyen, Olaf Riess, Thorsten Schmidt   +13 more
doaj   +2 more sources

What is the best way to keep walking and moving around for individuals with Machado-Joseph disease? A scoping review through the lens of Aboriginal families with Machado-Joseph disease in the Top End of Australia [PDF]

BMJ Open, 2019
Objectives Machado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide. Prevalence is highest in affected remote Aboriginal communities of the Top End of Australia.
Jennifer J Carr, Joyce Lalara, Gayangwa Lalara, Moira Smith, Jennifer Quaill, Alan R Clough, Anne Lowell, Ruth N Barker   +7 more
doaj   +2 more sources