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Neuroradiological Findings in the Spinocerebellar Ataxias.


ABSTRACT: 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.

SUBMITTER: Meira AT 

PROVIDER: S-EPMC6765228 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Neuroradiological Findings in the Spinocerebellar Ataxias.

Meira Alex Tiburtino AT   Arruda Walter Oleschko WO   Ono Sergio Eiji SE   Neto Arnolfo de Carvalho AC   Raskin Salmo S   Camargo Carlos Henrique F CHF   Teive Hélio Afonso G HAG  

Tremor and other hyperkinetic movements (New York, N.Y.) 20190926


<h4>Background</h4>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.<h4>Methods</h4>We conducted a literature search on this topic.<h4>Results</h4>The main NR charac  ...[more]

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