Results 61 to 70 of about 6,842,995 (191)

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Coenzyme Q10: Role in Less Common Age-Related Disorders

Antioxidants, 2022
In this article we have reviewed the potential role of coenzyme Q10 (CoQ10) in the pathogenesis and treatment of a number of less common age-related disorders, for many of which effective therapies are not currently available. For most of these disorders,
David Mantle, Iain P. Hargreaves
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1370-1378, July 2026.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease [PDF]

, 2015
BACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3.
João Vasconcelos, Bettencourt, B, Raposo, Mafalda, Ramos, A, Raposo, M, Vasconcelos, J, Kay, Teresa, Daniel Geschwind, Bruges-Armas, J, Amanda Ramos, Patrícia Maciel, Gao, F, Lima, Manuela, Coppola, G, Jácome Bruges‐Armas, Coppola, Giovanni, Bettencourt, Bruno, Ana João Rodrigues, Bettencourt, C, Ramos, Amanda, Vasconcelos, João, Bruno Bettencourt, Manuela Lima, Gao, Fuying, Mafalda Raposo, Fuying Gao, Maciel, P, Geschwind, Daniel, Kazachkova, Nadiya, Conceição Bettencourt, Bettencourt, Conceição, Kazachkova, N, Rodrigues, Ana João, Teresa Kay, Giovanni Coppola, Nadiya Kazachkova, Geschwind, D, Maciel, P., Maciel, Patrícia, Kay, T, Rodrigues, AJ, Lima, M, Bruges-Armas, Jácome   +42 more
core   +1 more source

Ubiquitin-interacting motifs of ataxin-3 regulate its polyglutamine toxicity through Hsc70-4-dependent aggregation

eLife, 2020
Spinocerebellar ataxia type 3 (SCA3) belongs to the family of polyglutamine neurodegenerations. Each disorder stems from the abnormal lengthening of a glutamine repeat in a different protein. Although caused by a similar mutation, polyglutamine disorders
Sean L Johnson, Bedri Ranxhi, Kozeta Libohova, Wei-Ling Tsou, Sokol V Todi   +4 more
doaj   +1 more source

A Novel Calpain Inhibitor Compound Has Protective Effects on a Zebrafish Model of Spinocerebellar Ataxia Type 3

Cells, 2021
Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson, Kristy Yuan, Stuart K. Plenderleith, Maxinne Watchon, Angela S. Laird   +4 more
doaj   +1 more source

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria, 2021
Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment.
Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Thiago Junqueira Ribeiro Rezende, Pedro Braga Neto, Marcondes Cavalcante França Junior, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +1 more source

Two Decades of DNA Methylation Shifts Reveal Epigenomic Responses to Environmental Change in Wild Salmo salar From Its Southernmost Populations

Molecular Ecology, Volume 35, Issue 13, July 2026.
ABSTRACT Atlantic salmon (Salmo salar) populations have been declining across the North Atlantic, with southern populations, including those in rivers draining into the southwestern Bay of Biscay, showing some of the strongest impacts. These rivers mark the species' southernmost distribution limit and are highly vulnerable to global change stressors ...
Alvaro Gutierrez‐Rodriguez, Carmen Blanco‐Fernandez, Eva Garcia‐Vazquez, Gonzalo Machado‐Schiaffino   +3 more
wiley   +1 more source

Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease

Frontiers in Neurology, 2013
Machado-Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein.
Thomas M Durcan, Edward A Fon
doaj   +1 more source

The psychological experience of living at risk of an autosomal dominant neurological condition: A scoping review

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract As our understanding of genetic risk and the availability of genetic testing increases, consideration of the psychological impact of living at risk for an autosomal dominant neurological condition (ADNC) becomes more pertinent. A systematic search of PsycINFO, MEDLINE, and Web of Science was run to identify studies exploring the psychological ...
Rhianna Brien, Simon Mead, Marc Tibber, Edgar Chan   +3 more
wiley   +1 more source