Neurol Genet 2021 Apr 2;7(2):e559. Epub 2021 Feb 2.
Department of Child Neurology, Emma Childrens Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, The Netherlands (M.D.S., T.E.M.A.); Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Italy (S.F., C.D., P.G.); Area di Ricerca Genetica e Malattie Rare (E.B.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Laboratory of Oncology and Molecular Genetics (K.A.), Clínica las Condes, Santiago, Chile; Department of Pediatric Neurology (C.C.), Clínica Las Condes, Santiago, Chile; Division of Child Neurology (P.T.), Department of Neurology, Istanbul Faculty of Medicine, Turkey; Department of Paediatrics (C.A.S.), Royal Childrens Hospital, Murdoch Childrens Research Institute and University of Melbourne, Victoria, Australia; Pediatric Neurology (C.E.E.), Radboud University Medical Center, Amalia Childrens Hospital, Nijmegen, The Netherlands; Department of Pediatrics (A.S.-V.), University of South Florida, Tampa; Unit of Pediatric Neurology and Neurorehabilitation (S.L.), Department WomanMother-Child, Lausanne University Hospital, Switzerland; Community Pediatrics, Royal Berkshire Hospital, Reading (S.H.), United Kingdom; Neuropediatric Department (T.S.-M.), Childrens Hospital, Luzern, Switzerland; Unit of Neurorehabilitation (G.V.), Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy; Paediatric Neurology (G.C.), Nottingham Childrens Hospital, United Kingdom; PEDEGO Research Unit (E.R.), Medical Research Center and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Finland; Radiology (C.O.), Clínica las Condes, Santiago, Chile; Unit of Neuromuscular and Neurodegenerative Disorders (E.S.B), Area di Ricerca Genetica e Malattie Rare and Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy; and Department of Child Neurology (M.S.v.d.K.), Emma Childrens Hospital and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.
Objective: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is regarded a relatively mild leukodystrophy, diagnosed by characteristic long tract abnormalities on MRI and biallelic variants in , encoding mitochondrial aspartyl-tRNA synthetase (mtAspRS). variants in LBSL are almost invariably compound heterozygous; in 95% of cases, 1 is a leaky splice site variant in intron 2. A few severely affected patients, still fulfilling the MRI criteria, have been described. Read More