Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency

Neurology. 2016 Jul 5;87(1):e4-5. doi: 10.1212/WNL.0000000000002805.

Authors

Joost Nicolai¹, Marjan J A van Kempen², Alida A Postma²

Affiliations

¹ From the Departments of Neurology (J.N.) and Radiology (A.A.P.), Maastricht University Medical Center; and Department of Medical Genetics (M.J.A.v.K.), University Medical Center Utrecht, the Netherlands. j.nicolai@mumc.nl.
² From the Departments of Neurology (J.N.) and Radiology (A.A.P.), Maastricht University Medical Center; and Department of Medical Genetics (M.J.A.v.K.), University Medical Center Utrecht, the Netherlands.

PMID: 27378809
DOI: 10.1212/WNL.0000000000002805

No abstract available

Publication types

Case Reports

MeSH terms

Calcinosis / diagnostic imaging
Calcinosis / pathology
Child, Preschool
Disease Progression*
Folate Receptor 1 / deficiency*
Folate Receptor 1 / genetics
Humans
Magnetic Resonance Imaging
Male
Neuroaxonal Dystrophies / diagnostic imaging
Neuroaxonal Dystrophies / genetics
Neuroaxonal Dystrophies / pathology*
Neuroimaging / methods*
Neurology / education
White Matter / diagnostic imaging
White Matter / pathology*

Substances

FOLR1 protein, human
Folate Receptor 1

Supplementary concepts

Neurodegeneration Due To Cerebral Folate Transport Deficiency