Pontine hot cross bun sign in spinocerebellar ataxia type 2

A 27-year-old man presenting with 11 years of progressive gait ataxia, imbalance, hand dexterity impairment, dysarthria, and urinary frequency. Examination showed slow saccades, dysarthria, head and upper extremities tremor, dysmetria, and gait ataxia. Brain MRI showed severe pontocerebellar atrophy...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2020-10, Vol.78 (10), p.665-665
Main Authors: SOTO, María Carolina Sepúlveda, MUNHOZ, Renato Puppi
Format: Article
Language:English
Subjects:
Ataxia
Atrophy
Cerebellum
Dysarthria
Editorial
Gait
Humans
Magnetic resonance imaging
Neuroimaging
Polyglutamine
Pons - pathology
Spinocerebellar ataxia
Spinocerebellar Ataxias
Tremor
Trinucleotide repeats
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Summary:A 27-year-old man presenting with 11 years of progressive gait ataxia, imbalance, hand dexterity impairment, dysarthria, and urinary frequency. Examination showed slow saccades, dysarthria, head and upper extremities tremor, dysmetria, and gait ataxia. Brain MRI showed severe pontocerebellar atrophy with hot cross bun sign. A genetic study revealed a heterozygous 43 CAG repeat expansion of the ATXN2 gene compatible with spinocerebellar ataxia type 2 (SCA2). The hot cross bun sign was classically regarded as a typical neuroimaging finding of the cerebellar variant of multiple system atrophy. However, it is not pathognomonic, having been described in other degenerative disorders manifesting ataxia.
ISSN:0004-282X
1678-4227
DOI:10.1590/0004-282X20200066