Progression of ataxia in patients with Machado‐Joseph disease
Identifieur interne : 002118 ( Main/Exploration ); précédent : 002117; suivant : 002119Progression of ataxia in patients with Machado‐Joseph disease
Auteurs : Marcondes C. França Jr [Brésil] ; Anelyssa D'Abreu [Brésil] ; Anamarli Nucci [Brésil] ; Fernando Cendes [Brésil] ; Iscia Lopes-Cendes [Brésil]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-07-15.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Adult, Aged, Ataxia (etiology), Brazil, Disability Evaluation, Disease Progression, Female, Humans, ICARS, Machado-Joseph Disease (complications), Machado-Joseph Disease (genetics), Male, Middle Aged, Prospective Studies, SCA3, Severity of Illness Index, Trinucleotide Repeat Expansion (genetics), Young Adult, spinocerebellar ataxia type 3.
- MESH :
- geographic : Brazil.
- complications : Machado-Joseph Disease.
- etiology : Ataxia.
- genetics : Machado-Joseph Disease, Trinucleotide Repeat Expansion.
- Adult, Aged, Disability Evaluation, Disease Progression, Female, Humans, Male, Middle Aged, Prospective Studies, Severity of Illness Index, Young Adult.
Abstract
Although ataxia is the most distressing manifestation of Machado‐Joseph disease (MJD), little is known about its natural history. Therefore, we prospectively followed a cohort of patients with MJD for 13 months to characterize the progression of ataxia and identify its contributory factors. The international cooperative ataxia rating scale (ICARS) was used to estimate severity of ataxia at baseline and at follow‐up. Thirty‐four patients were enrolled in the study, 22 of whom were men. Mean age at onset of the disease was 34.7 years and length of expanded CAG repeat was 66. Mean ICARS scores at baseline was 37.6 and at follow‐up was 42.7 (P < 0.001). Multivariate analysis did not find significant association of progression of disease and age at disease onset, length of expanded (CAG), or duration of disease. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22627
Affiliations:
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Therefore, we prospectively followed a cohort of patients with MJD for 13 months to characterize the progression of ataxia and identify its contributory factors. The international cooperative ataxia rating scale (ICARS) was used to estimate severity of ataxia at baseline and at follow‐up. Thirty‐four patients were enrolled in the study, 22 of whom were men. Mean age at onset of the disease was 34.7 years and length of expanded CAG repeat was 66. Mean ICARS scores at baseline was 37.6 and at follow‐up was 42.7 (P < 0.001). Multivariate analysis did not find significant association of progression of disease and age at disease onset, length of expanded (CAG), or duration of disease. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Franca Jr, Marcondes C" sort="Franca Jr, Marcondes C" uniqKey="Franca Jr M" first="Marcondes C." last="França Jr">Marcondes C. França Jr</name></region><name sortKey="Cendes, Fernando" sort="Cendes, Fernando" uniqKey="Cendes F" first="Fernando" last="Cendes">Fernando Cendes</name><name sortKey="D Abreu, Anelyssa" sort="D Abreu, Anelyssa" uniqKey="D Abreu A" first="Anelyssa" last="D'Abreu">Anelyssa D'Abreu</name><name sortKey="Lopes Endes, Iscia" sort="Lopes Endes, Iscia" uniqKey="Lopes Endes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name><name sortKey="Nucci, Anamarli" sort="Nucci, Anamarli" uniqKey="Nucci A" first="Anamarli" last="Nucci">Anamarli Nucci</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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