Megalencephalic leukoencephalopathy with subcortical cysts
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Megalencephalic leukoencephalopathy with subcortical cysts : Characterization of disease variants. / MLC Research Group.
In: NEUROLOGY, Vol. 90, No. 16, 17.04.2018, p. e1395-e1403.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Megalencephalic leukoencephalopathy with subcortical cysts
T2 - Characterization of disease variants
AU - Hamilton, Eline M C
AU - Tekturk, Pinar
AU - Cialdella, Fia
AU - van Rappard, Diane F
AU - Wolf, Nicole I
AU - Yalcinkaya, Cengiz
AU - Çetinçelik, Ümran
AU - Rajaee, Ahmad
AU - Kariminejad, Ariana
AU - Paprocka, Justyna
AU - Yapici, Zuhal
AU - Bošnjak, Vlatka Mejaški
AU - van der Knaap, Marjo S
AU - MLC Research Group
N1 - Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
PY - 2018/4/17
Y1 - 2018/4/17
N2 - OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.METHODS: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.RESULTS: We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B.CONCLUSION: Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.
AB - OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.METHODS: We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.RESULTS: We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B.CONCLUSION: Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.
KW - Adolescent
KW - Cell Cycle Proteins
KW - Cerebral Cortex/diagnostic imaging
KW - Child
KW - Child, Preschool
KW - Cross-Sectional Studies
KW - Cysts/diagnostic imaging
KW - Female
KW - Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging
KW - Humans
KW - International Cooperation
KW - Magnetic Resonance Imaging
KW - Male
KW - Membrane Proteins/genetics
KW - Mutation/genetics
KW - Proteins/genetics
KW - Retrospective Studies
KW - Severity of Illness Index
KW - Young Adult
U2 - 10.1212/WNL.0000000000005334
DO - 10.1212/WNL.0000000000005334
M3 - SCORING: Journal article
C2 - 29661901
VL - 90
SP - e1395-e1403
JO - NEUROLOGY
JF - NEUROLOGY
SN - 0028-3878
IS - 16
ER -