Tremor and Other Hyperkinetic Movements | |
Neuroradiological Findings in the Spinocerebellar Ataxias | |
Sergio Eiji Ono1  Arnolfo de Carvalho Neto1  Salmo Raskin2  Alex Tiburtino Meira3  Walter Oleschko Arruda3  Hélio Afonso G. Teive3  Carlos Henrique F. Camargo4  | |
[1] DAPI, Diagnóstico Avançado por Imagem, Curitiba, BR;Genetika – Centro de aconselhamento e laboratório de genética, Curitiba, BR;Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR;Neurological Diseases Group, Graduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR; | |
关键词: Spinocerebellar ataxia; brain imaging; magnetic resonance imaging; ataxia; gait ataxia; cerebellar diseases; | |
DOI : 10.7916/tohm.v0.682 | |
来源: DOAJ |
【 摘 要 】
Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs – clinical, laboratorial, and neuroradiological (NR) – can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods: We conducted a literature search on this topic. Results: The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; “hot cross bun sign”, and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion: The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.
【 授权许可】
Unknown