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Hot cross bun sign in a Peruvian patient with spinocerebellar ataxia type 2: A case report

Original title: Signo de la cruz en una paciente peruana con ataxia espinocerebelosa tipo 2: reporte de un caso
  • Lily Tantalean-Gutierrez(corresponding author)
    ,
  • Paola Tacca-Quinteros
    ,
  • Elison Sarapura-Castro
    ,
*Corresponding author for this work
  • Universidad Científica del Sur
    ,
  • docencia y atención especializada en epilepsia
    ,
Research Output:
Contribution to journal
Article
Peer-review

Open access

Publication Information

Output type

Research Output:
Contribution to journal
Article
Peer-review

Original language

Spanish

Pages from-to (Number of pages)

Pages 148-153 (6 pages)

Journal (Volume, Issue Number)

Revista de Neuro-Psiquiatria (Volume 86, Issue 2)

Publication milestones

  • Published - 04/2023

Publication status

Published - 04/2023

ISSN

0034-8597

Publication IDs

  • Scopus: 85176892173

Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant inherited neurodegenerative disease, caused by an abnormal CAG trinucleotide expansion in the ATXN2 gene. SCA2 usually occurs in adulthood, with progressive ataxia associated with peripheral neuropathy, impaired eye movements, parkinsonism, and other symptoms. Auxiliary exams include biochemical tests, neuroimaging such as brain MRI, and a molecular genetic study. We describe, for the first time in the Peruvian population, the case of a middle-aged woman with a confirmed diagnosis of SCA2, whose brain MRI shows the “Hot Cross Bun Sign”.

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Sustainable Development Goals

  • SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well