Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3

2022 ◽  
Author(s):  
Ana Rosa Vieira Melo ◽  
Mafalda Raposo ◽  
Marta Ventura ◽  
Sandra Martins ◽  
Sara Pavão ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Spinocerebellar Ataxia ◽  
Regulatory Elements ◽  
Spinocerebellar Ataxia Type ◽  
Causative Gene ◽  
Spinocerebellar Ataxia Type 3 ◽  
Machado Joseph Disease ◽  
Type 3

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

1995 ◽  
Vol 38 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Toni Matilla ◽  
Alanna McCall ◽  
S. H. Subramony ◽  
Huda Y. Zoghbi
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Clinical Correlations ◽  
Machado Joseph Disease ◽  
Type 3

scholarly journals Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

2018 ◽  
Vol 12 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Ligia Maria Perrucci Catai ◽  
Carlos Henrique Ferreira Camargo ◽  
Adriana Moro ◽  
Gustavo Ribas ◽  
Salmo Raskin ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Movement Disorders ◽  
Disease Onset ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Generalized Dystonia ◽  
Machado Joseph Disease ◽  
Sca3 Patient ◽  
Type 3

Background:Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3.Objective:The objective of this study was to evaluate the dystonia characteristics in patients with MJD.Method:We identified all SCA3 patients with dystonia from the SCA3 HC-UFPR database, between December 2015 and December 2016.Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data. Standardized evaluation was carried out through the classification of Movement Disorders Society of 2013 and Burke Fahn-Marsden scale (BFM).Results:Amongst the presenting some common characteristics, 381 patients with SCA3, 14 (3.7%) subjects presented dystonia: 5 blepharospasm, 1 cervical dystonia, 3 oromandibular, 3 multifocal and 2 generalized dystonia. Regarding dystonia's subtypes, 71.4% had SCA3 subtype I and 28.6% SCA3 subtype II. The average age of the disease onset was 40±10.7 years; the SCA3 disease duration was 11.86± 6.13 years; the CAG repeat lengths ranged from 75 to 78, and the BFM scores ranged from 1.0 to 40. There was no correlation between the dystonia severity and CAG repeat lengths or the SCA3 clinical evolution.Conclusion:Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient.

Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD)

1995 ◽  
Vol 132 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Gerd Haberhausen ◽  
Maxwell S. Damian ◽  
Frank Leweke ◽  
Ulrich Müller
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Machado Joseph Disease ◽  
Type 3

scholarly journals Reconstructing the History of Machado-Joseph Disease

2020 ◽  
Vol 83 (1) ◽  
pp. 99-104
Author(s):  
Alex Tiburtino Meira ◽  
José Luiz Pedroso ◽  
François Boller ◽  
Gustavo Leite Franklin ◽  
Orlando Graziani Povoas Barsottini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Hereditary Ataxia ◽  
Spinocerebellar Ataxia Type 3 ◽  
History Of ◽  
Machado Joseph Disease ◽  
Type 3

Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, was originally described in members of the families of Machado, Thomas, and Joseph from São Miguel Island, Azores, Portugal, in 1972. The purpose of this article is to present previous descriptions of hereditary ataxia resembling the heterogeneous phenotypic intra-familiar presentation of MJD. We suggest that the condition would best be called dominant spino-pontine atrophy.

Fatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

2016 ◽  
Vol 16 (1) ◽  
pp. 118-121 ◽  
Author(s):  
Alberto R. M. Martinez ◽  
Marcelo B. Nunes ◽  
Ingrid Faber ◽  
Anelyssa D’Abreu ◽  
Íscia Lopes-Cendes ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Associated Factors ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Machado Joseph Disease ◽  
Type 3

scholarly journals Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Carlos R. Hernandez-Castillo ◽  
Rosalinda Diaz ◽  
Aurelio Campos-Romo ◽  
Juan Fernandez-Ruiz
Keyword(s):  
Spinocerebellar Ataxia ◽  
Neural Correlates ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Machado Joseph Disease ◽  
Type 3
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