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"Hot cross bun" sign resembling multiple system atrophy in a patient with Machado-Joseph disease

José Luiz Pedroso1, René Leandro M Rivero, Orlando Graziani Povoas Barsottini

  • 1Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São PauloSP, Brazil.

Arquivos De Neuro-Psiquiatria
|November 12, 2013
PubMed
Abstract

No abstract available in PubMed .

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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