TY - JOUR
T1 - Signo de la cruz en una paciente peruana con ataxia espinocerebelosa tipo 2
T2 - reporte de un caso
AU - Tantalean-Gutierrez, Lily
AU - Tacca-Quinteros, Paola
AU - Sarapura-Castro, Elison
AU - Cornejo-Olivas, Mario
N1 - Publisher Copyright:
©2023 Duke University Press.
PY - 2023/4
Y1 - 2023/4
N2 - 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”.
AB - 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”.
KW - Hot Cross Bun Sign
KW - Peru
KW - SCA2
KW - spinocerebellar ataxia type 2
UR - http://www.scopus.com/inward/record.url?scp=85176892173&partnerID=8YFLogxK
U2 - 10.20453/rnp.v86i3.4561
DO - 10.20453/rnp.v86i3.4561
M3 - Artículo
AN - SCOPUS:85176892173
SN - 0034-8597
VL - 86
SP - 148
EP - 153
JO - Revista de Neuro-Psiquiatria
JF - Revista de Neuro-Psiquiatria
IS - 2
ER -
