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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

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Neuroimaging Changes in Menkes Disease, Part 1.

R Manara¹, L D'Agata², M C Rocco³

¹From the Neuroradiology (R. Manara, M.C.R.), Sezione di Neuroscienze, Medicine and Surgery Department, University of Salerno, Salerno, Italy rmanara@unisa.it.

AJNR. American Journal of Neuroradiology

|May 13, 2017

Summary

This summary is machine-generated.

Menkes disease, a rare X-linked copper metabolism disorder, shows early vascular abnormalities and later myelination delays. Understanding these brain changes aids early diagnosis and treatment monitoring.

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Area of Science:

Neurology
Radiology
Genetics

Background:

Menkes disease is a rare, X-linked disorder affecting copper metabolism.
Neurologic involvement is early, severe, and progressive, but brain pathology is not fully understood.

Purpose of the Study:

To define the frequency, timing, imaging features, and evolution of intracranial vascular and white matter changes in Menkes disease.
To improve understanding of brain injury mechanisms and identify potential biomarkers.

Main Methods:

Retrospective and review Magnetic Resonance (MR) imaging study.
Analysis of intracranial vascular and white matter changes over disease progression.

Main Results:

Striking, poorly evolutive vascular abnormalities are present in early disease stages.
Myelination delay and focal white matter lesions become evident after initial months, some showing age-specific vulnerability.
Neurodegeneration in later stages may impede myelination.

Conclusions:

The evolution of neuroradiologic findings offers insights for early Menkes disease diagnosis.
MR imaging biomarkers may help assess new treatment efficacy.
This study enhances comprehension of brain injury mechanisms in Menkes disease.