TY - JOUR
T1 - Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency
AU - Nicolai, Joost
AU - van Kempen, Marjan J. A.
AU - Postma - Jacobi, Linda
PY - 2016/7/5
Y1 - 2016/7/5
N2 - Cerebral folate transport deficiency is caused by homozygous or compound heterozygous mutations of the FOLR1 gene.(1) Recently, we found a homozygous FOLR1 mutation (NM_016725.2: c.562C>G p.[Leu188Val]) in a 2.5-year-old boy with febrile and nonfebrile status epilepticus, progressive ataxia, and progressive MRI abnormalities. Until the diagnosis was made, serial MRI had been performed (figure). CSF analysis (5-methyltetrahydrofolate 40 nmol/L) and magnetic resonance spectroscopy showing a low choline peak validated the pathogenicity of our findings.(2
AB - Cerebral folate transport deficiency is caused by homozygous or compound heterozygous mutations of the FOLR1 gene.(1) Recently, we found a homozygous FOLR1 mutation (NM_016725.2: c.562C>G p.[Leu188Val]) in a 2.5-year-old boy with febrile and nonfebrile status epilepticus, progressive ataxia, and progressive MRI abnormalities. Until the diagnosis was made, serial MRI had been performed (figure). CSF analysis (5-methyltetrahydrofolate 40 nmol/L) and magnetic resonance spectroscopy showing a low choline peak validated the pathogenicity of our findings.(2
U2 - 10.1212/WNL.0000000000002805
DO - 10.1212/WNL.0000000000002805
M3 - Editorial
C2 - 27378809
VL - 87
SP - E4-E5
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 1
ER -