Neuroradiological Findings in the Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements

article

Alex Tiburtino Meira¹  Walter Oleschko Arruda¹  Sergio Eiji Ono²  Arnolfo de Carvalho Neto²  Salmo Raskin⁴  Carlos Henrique F. Camargo³  Hélio Afonso G. Teive¹ 

[1] Movement Disorders Unit, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná;DAPI, Diagnóstico Avançado por Imagem;Neurological Diseases Group, Graduate Program of Internal Medicine, Hospital de Clínicas, Federal University of Paraná;Genetika – Centro de aconselhamento e laboratório de genética

关键词: Spinocerebellar ataxia;    brain imaging;    magnetic resonance imaging;    ataxia;    gait ataxia;    cerebellar diseases;   

DOI  :  10.5334/tohm.516

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 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】

CC BY