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Neuroimaging Changes in Menkes Disease, Part 1

Neuroimaging Changes in Menkes Disease, Part 1 REVIEW ARTICLE X R. Manara, X L. D’Agata, X M.C. Rocco, X R. Cusmai, X E. Freri, X L. Pinelli, X F. Darra, X E. Procopio, X R. Mardari, X C. Zanus, X G. Di Rosa, X C. Soddu, X M. Severino, X M. Ermani, X D. Longo, X S. Sartori, and the Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases ABSTRACT SUMMARY: Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

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Publisher
American Journal of Neuroradiology
Copyright
© 2017 by American Journal of Neuroradiology
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A5186
Publisher site
See Article on Publisher Site

Abstract

REVIEW ARTICLE X R. Manara, X L. D’Agata, X M.C. Rocco, X R. Cusmai, X E. Freri, X L. Pinelli, X F. Darra, X E. Procopio, X R. Mardari, X C. Zanus, X G. Di Rosa, X C. Soddu, X M. Severino, X M. Ermani, X D. Longo, X S. Sartori, and the Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases ABSTRACT SUMMARY: Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new

Journal

American Journal of NeuroradiologyAmerican Journal of Neuroradiology

Published: Oct 1, 2017

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