Artículo

Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation

Calandra, Cristian R.; Buda, Guadalupe; Vishnopolska, Sebastián AlexisIcon ; Oliveri, Jaen Natalia; Olivieri, Federico AlbertoIcon ; Pérez Millán, María InésIcon ; Biagioli, German; Miquelini, Luis A.; Pellene, Alejandro L.; Marti, Marcelo AdrianIcon
Fecha de publicación: 04/2020
Editorial: Elsevier
Revista: Parkinsonism & Related Disorders
ISSN: 1353-8020
e-ISSN: 1873-5126
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

The eye-of-the-tiger (EOT) is a neuroradiologic sign observed on T2-weighted sequences that refers to a central high signal intensity in the anteromedial aspect of both globus pallidus (GP) and a surrounding low signal intensity due to excess iron deposition. Combining T2 and susceptibility-weighted images (SWI) allows an optimal characterization of iron accumulation. The EOT sign is considered almost pathognomonic of pantothenate kinase-associated neurodegeneration (PKAN)
Palabras clave: AFG3L2 , EXOME SEQUENCING , EYE-OF-THE-TIGER , SCA28 , SPG7
 
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info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/113391
URL: https://www.prd-journal.com/article/S1353-8020(20)30076-6/fulltext
DOI: http://dx.doi.org/10.1016/j.parkreldis.2020.03.020
Colecciones
Articulos(INBIOMED)
Articulos de INSTITUTO DE INVESTIGACIONES BIOMEDICAS
Citación
Calandra, Cristian R.; Buda, Guadalupe; Vishnopolska, Sebastián Alexis; Oliveri, Jaen Natalia; Olivieri, Federico Alberto; et al.; Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation; Elsevier; Parkinsonism & Related Disorders; 73; 4-2020; 52-54
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