José Luiz Pedroso1, Paulo Victor Sgobbi de Souza2, Wladimir Bocca Vieira de Rezende Pinto3, Pedro Braga-Neto4, Marcus Vinicius Cristino Albuquerque5, Maria Luiza Saraiva-Pereira6, Laura Bannach Jardim7, Orlando Graziani Povoas Barsottini5. 1. Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: jlpedroso.neuro@gmail.com. 2. Federal University of São Paulo (UNIFESP), São Paulo, Brazil. 3. Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. 4. Center of Health Sciences, Universidade Estadual do Ceará, CE, Brazil. 5. Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. 6. Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil. 7. Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil; Instituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, Brazil.
Abstract
INTRODUCTION: The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1. METHODS: We prospectively evaluated the pyramidal signs and spasticity in SCA1 patients, and correlated the data with genetic and clinical features. RESULTS: In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1 patients with spasticity were significantly younger. CONCLUSION: SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group.
INTRODUCTION: The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1. METHODS: We prospectively evaluated the pyramidal signs and spasticity in SCA1patients, and correlated the data with genetic and clinical features. RESULTS: In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1patients with spasticity were significantly younger. CONCLUSION:SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group.
Authors: Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira Journal: Cerebellum Date: 2017-04 Impact factor: 3.847
Authors: Swati Khare; Kira Galeano; Yalan Zhang; Jerelyn A Nick; Harry S Nick; S H Subramony; Jacinda Sampson; Leonard K Kaczmarek; Michael F Waters Journal: Cerebellum Date: 2018-10 Impact factor: 3.847
Authors: Carlos Roberto Martins; Alberto Rolim Muro Martinez; Thiago Junqueira Ribeiro de Rezende; Lucas Melo Teixeira Branco; José Luiz Pedroso; Orlando G P Barsottini; Iscia Lopes-Cendes; Marcondes C França Journal: Cerebellum Date: 2017-08 Impact factor: 3.847