Neuroimaging changes in menkes disease, part 1

R. Manara, L. D'Agata, M. C. Rocco, R. Cusmai, E. Freri, L. Pinelli, F. Darra, E. Procopio, R. Mardari, C. Zanus, G. Di Rosa, C. Soddu, M. Severino, M. Ermani, D. Longo, S. Sartori

Research output: Contribution to journalReview article

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1850-1857
Number of pages8
JournalAmerican Journal of Neuroradiology
Volume38
Issue number10
DOIs
Publication statusPublished - Oct 1 2017

Fingerprint

Menkes Kinky Hair Syndrome
Neuroimaging
Blood Vessels
Brain
Brain Injuries
Nervous System
Copper
Early Diagnosis
Biomarkers
White Matter

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

Manara, R., D'Agata, L., Rocco, M. C., Cusmai, R., Freri, E., Pinelli, L., ... Sartori, S. (2017). Neuroimaging changes in menkes disease, part 1. American Journal of Neuroradiology, 38(10), 1850-1857. https://doi.org/10.3174/ajnr.A5186

Neuroimaging changes in menkes disease, part 1. / Manara, R.; D'Agata, L.; Rocco, M. C.; Cusmai, R.; Freri, E.; Pinelli, L.; Darra, F.; Procopio, E.; Mardari, R.; Zanus, C.; Di Rosa, G.; Soddu, C.; Severino, M.; Ermani, M.; Longo, D.; Sartori, S.

In: American Journal of Neuroradiology, Vol. 38, No. 10, 01.10.2017, p. 1850-1857.

Research output: Contribution to journalReview article

Manara, R, D'Agata, L, Rocco, MC, Cusmai, R, Freri, E, Pinelli, L, Darra, F, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D & Sartori, S 2017, 'Neuroimaging changes in menkes disease, part 1', American Journal of Neuroradiology, vol. 38, no. 10, pp. 1850-1857. https://doi.org/10.3174/ajnr.A5186
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L et al. Neuroimaging changes in menkes disease, part 1. American Journal of Neuroradiology. 2017 Oct 1;38(10):1850-1857. https://doi.org/10.3174/ajnr.A5186
Manara, R. ; D'Agata, L. ; Rocco, M. C. ; Cusmai, R. ; Freri, E. ; Pinelli, L. ; Darra, F. ; Procopio, E. ; Mardari, R. ; Zanus, C. ; Di Rosa, G. ; Soddu, C. ; Severino, M. ; Ermani, M. ; Longo, D. ; Sartori, S. / Neuroimaging changes in menkes disease, part 1. In: American Journal of Neuroradiology. 2017 ; Vol. 38, No. 10. pp. 1850-1857.
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