INVESTIGADORES
PEREZ LLORET Santiago
artículos
Título:
Autosomal dominant cerebellar ataxias: a systematic review of clinical features
Autor/es:
MALCO ROSSI; SANTIAGO PÉREZ LLORET; LILIANA DOLDAN; DANIEL CERQUETTI; JORGE BALEJ; PATRICIO MILLAR VERNETTI; MARTIN HAWKES; ANGEL CAMMAROTA; MARCELO MERELLO
Revista:
EUROPEAN JOURNAL OF NEUROLOGY
Editorial:
WILEY-BLACKWELL PUBLISHING, INC
Referencias:
Lugar: Londres; Año: 2014 vol. 21 p. 607 - 615
ISSN:
1351-5101
Resumen:
Objective: To assess through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. Methods: Structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCAs clinical features written in several languages were selected. Gray literature was included and a back-search conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data was analyzed using chi-square test and controlled for alpha-error inflation applying Holms step-down procedure. Results: One thousand sixty-two publications reviewing 12141 patients (52% male) from 29 SCAs were analyzed. Mean age at onset was 35±11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptoms frequency was 50%. Some ADCAs often presented at onset non-ataxia symptoms, like SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore, a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, while others presented additional features. Conclusions: ADCAs encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguished different genetic subtypes. A new algorithm for ADCAs classification at disease onset is proposed.