Adriana Moro1, Renato P Munhoz2, Walter O Arruda1, Salmo Raskin3, Mariana Moscovich1, Hélio A G Teive1. 1. Setor de Neurologia, Departamento de Medicina Interna, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil. 2. Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada. 3. Laboratório Genetika, Curitiba, PR, Brazil.
Abstract
UNLABELLED: Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. METHOD: The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. RESULTS: SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. CONCLUSION: Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies.
UNLABELLED: Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. METHOD: The series comprises 167 SCA3patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. RESULTS:SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. CONCLUSION: Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies.
Authors: Christiane de M B Almeida Leite; Maria Eliana M Schieferdecker; Caroline Frehner; Renato P Munhoz; Tetsuo Ashizawa; Hélio A G Teive Journal: Nutr Neurosci Date: 2018-05-07 Impact factor: 4.994
Authors: Alex Tiburtino Meira; Walter Oleschko Arruda; Sergio Eiji Ono; Arnolfo de Carvalho Neto; Salmo Raskin; Carlos Henrique F Camargo; Hélio Afonso G Teive Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2019-09-26