Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
Stutterd C, Lake N, Peters H, Lockhart P, Taft R, van der Knaap M, Vanderver A, Thorburn D, Simons C, Leventer R. Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. JIMD Reports 2018, 43: 63-70. PMID: 29654549, PMCID: PMC6323033, DOI: 10.1007/8904_2018_100.Peer-Reviewed Original ResearchComplete clinical recoveryClinical recoveryClinical courseMRI abnormalitiesWhite matterTrio whole-genome sequencingBilateral T2 hyperintensitiesWhole-genome sequencingPatient's clinical courseDeep white matterFrontal white matterCompound heterozygous variantsRespiratory chain enzyme activitiesNovel disease-causing variantsCultured patient fibroblastsPatient fibroblastsMitochondrial respiratory chain enzyme activitiesAcute hemiplegiaT2 hyperintensityMultisystem diseaseSevere leukoencephalopathyDisease onsetGenetic leukoencephalopathiesNeurological regressionLactate levels