title: A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
abstract: We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I activity. Magnetic resonance imaging of the brain showed a diffuse cystic leukoencephalopathy with the involvement of the corpus callosum and sparing of the gray matter. The clinical course was marked by an acute presentation of neurological deficits at 24 months followed by recurrent episodes of mild neurological deterioration, subsequent remissions, and prolonged periods of stability. This is one of the mildest known clinical presentations of complex I deficiency secondary to mutations in NDUFS1, expanding the clinical spectrum and natural history of this disorder. Consideration of clinical variability needs to be taken into account in patient management and family counseling.
authors: Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada, ali.kashani@mail.mcgill.ca.
authors: Alireza
authors: A
authors: Kashani
authors: Isabelle
authors: I
authors: Thiffault
authors: Marie-Emmanuelle
authors: ME
authors: Dilenge
authors: Christine
authors: C
authors: Saint-Martin
authors: Kether
authors: K
authors: Guerrero
authors: Luan T
authors: LT
authors: Tran
authors: Eric
authors: E
authors: Shoubridge
authors: Marjo S
authors: MS
authors: van der Knaap
authors: Nancy
authors: N
authors: Braverman
authors: Geneviève
authors: G
authors: Bernard
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D042967:Electron Transport Complex I / Q000172:deficiency* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D009245:NADH Dehydrogenase / Q000235:genetics*
chemical_list: C487793:NDUFS1 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I