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

Article

Authorship:

Calandra, Cristian R. ; Buda, Guadalupe ; Vishnopolska, Sebastián Alexis ; Oliveri, Jaen Natalia ; Olivieri, Federico Alberto ; PEREZ MILLAN, MARIA INES ; Biagioli, German ; Miquelini, Luis A. ; Pellene, Alejandro L. ; MARTI, MARCELO ADRIAN

Date:

2020

Publishing House and Editing Place:

ELSEVIER SCI LTD

Magazine:

PARKINSONISM & RELATED DISORDERS, vol. 73 (pp. 52-54) ELSEVIER SCI LTD

Summary

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)

Key Words

EXOME SEQUENCINGAFG3L2SPG7SCA28EYE-OF-THE-TIGER

Download or request the full text:

http://hdl.handle.net/11336/113391