Toward understanding Machado–Joseph disease

M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …

Machado-Joseph Disease: from first descriptions to new perspectives

C Bettencourt, M Lima - Orphanet journal of rare diseases, 2011 - Springer
Abstract Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), represents the most common form of SCA worldwide. MJD is an autosomal …

Population Genetics of Wild-Type CAG Repeats in the Machado-Joseph Disease Gene in Portugal

M Lima, MC Costa, R Montiel, A Ferro, C Santos… - Human …, 2006 - karger.com
Objective: To gain insights on the molecular mechanisms of mutation that led to the
emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type …

Psychological aspects of pre‐symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I

L Rolim, Â Leite, S Ledo, M Paneque… - Clinical …, 2006 - Wiley Online Library
Machado–Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial
amyloid polyneuropathy type I (FAP‐I or ATTR V30M) are neurodegenerative disorders …

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

L Schuler-Faccini, CM Osorio, F Romariz… - … and Molecular Biology, 2014 - SciELO Brasil
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder
and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic …

Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing

CSM Rodrigues, VZ de Oliveira, G Camargo… - Journal of Genetic …, 2012 - Springer
Diagnostic tests are available to detect several mutations related to adult-onset, autosomal
dominant, neurodegenerative diseases. We aimed to describe our experience in a …

The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from

T Cruz‐Mariño, L Velázquez‐Pérez… - Clinical …, 2013 - Wiley Online Library
Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2),
health professionals in Cuba developed a program for the predictive testing of this condition …

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation

C Gonzalez, E Gomes, N Kazachkova… - Genetic Testing and …, 2012 - liebertpub.com
The present study on long-term outcome of presymptomatic testing for Machado-Joseph
disease (MJD) aimed to evaluate the psychological well-being and the familial satisfaction of …

Consumers' desire towards current and prospective reproductive genetic testing

F Hathaway, E Burns, H Ostrer - Journal of Genetic Counseling, 2009 - Springer
As our knowledge and abilities in molecular genetics continues to expand, so does our
ability to detect certain conditions/traits prenatally; however, it is unknown if this increase in …

The homogeneous Azorean Machado-Joseph disease cohort: characterization and contributions to advances in research

M Lima, M Raposo, A Ferreira, ARV Melo, S Pavão… - Biomedicines, 2023 - mdpi.com
Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common
autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive …