@article {10554,
	title = {Neuroimaging Changes in Menkes Disease, Part 1.},
	journal = {AJNR Am J Neuroradiol},
	volume = {38},
	year = {2017},
	month = {2017 Oct},
	pages = {1850-1857},
	abstract = {<p>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 treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.</p>},
	keywords = {Brain, Disease Progression, Female, Humans, Magnetic Resonance Imaging, Male, Menkes Kinky Hair Syndrome, Neuroimaging, Retrospective Studies, White Matter},
	issn = {1936-959X},
	doi = {10.3174/ajnr.A5186},
	author = {Manara, R and D{\textquoteright}Agata, L and Rocco, M C and Cusmai, R and Freri, E and Pinelli, L and Darra, F and Procopio, E and Mardari, R and Zanus, C and Di Rosa, G and Soddu, C and Severino, M and Ermani, M and Longo, D and Sartori, S}
}
