SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group
| Autor: | Wladimir Bocca Vieira de Rezende Pinto, Laura Bannach Jardim, Pedro Braga-Neto, Orlando Graziani Povoas Barsottini, Maria Luiza Saraiva-Pereira, Paulo Victor Sgobbi de Souza, José Luiz Pedroso, Marcus Vinicius Cristino de Albuquerque |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Spinocerebellar Ataxia Type 1 Pediatrics medicine.medical_specialty Hereditary spastic paraplegia Intellectual Disability medicine Spastic Humans Spinocerebellar Ataxias Spasticity Genetic testing medicine.diagnostic_test Cerebellar ataxia Spastic Paraplegia Hereditary business.industry Middle Aged medicine.disease nervous system diseases Optic Atrophy Phenotype Neurology Muscle Spasticity Spinocerebellar ataxia Physical therapy Female Neurology (clinical) Geriatrics and Gerontology medicine.symptom business Paraplegia |
| Zdroj: | Parkinsonism & Related Disorders. 21:1243-1246 |
| ISSN: | 1353-8020 |
| DOI: | 10.1016/j.parkreldis.2015.07.015 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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