Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/61636

TitleMovement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Author(s)Temudo, Teresa
Ramos, Elisabete
Dias, Karin
Barbot, Clara
Vieira, José P.
Moreira, Ana
Calado, Eulália
Carrilho, Inês
Oliveira, Guiomar
Maciel, P.
KeywordsAdolescent
Age of Onset
Child
Child, Preschool
Codon, Nonsense
Disease Progression
Female
Frameshift Mutation
Genotype
Humans
Male
Methyl-CpG-Binding Protein 2
Movement Disorders
Mutation, Missense
Rett Syndrome
Sequence Deletion
Severity of Illness Index
Stereotypic Movement Disorder
Time Factors
Mutation
Parkinson
Rigidity
Dystonia
Chorea
Tremor
Stereotypies
Issue date30-Jul-2008
PublisherWiley
JournalMovement Disorders
Abstract(s)Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating, including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait, dystonia, type of tremor, and global score severity when comparing the group of patients with missense and truncating mutations. We also found differences in the presence, distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months; 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid-akinetic syndrome, when comparing groups with similar time of disease evolution.
TypeArticle
URIhttp://hdl.handle.net/1822/61636
DOI10.1002/mds.22115
ISSN0885-3185
e-ISSN1531-8257
Peer-Reviewedyes
AccessRestricted access (UMinho)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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