title: Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.
abstract: The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.
authors.affiliation: Department of Pediatric Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
authors.forename: N I
authors.initials: NI
authors.lastname: Wolf
authors.forename: I
authors.initials: I
authors.lastname: Harting
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: G
authors.initials: G
authors.lastname: Wiegand
authors.forename: M J
authors.initials: MJ
authors.lastname: Koch
authors.forename: T
authors.initials: T
authors.lastname: Schmitt-Mechelke
authors.forename: E
authors.initials: E
authors.lastname: Martin
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: B
authors.initials: B
authors.lastname: Uhlenberg
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: L
authors.initials: L
authors.lastname: Weber
authors.forename: F
authors.initials: F
authors.lastname: Ebinger
authors.forename: D
authors.initials: D
authors.lastname: Rating
mesh_terms: D017668:Age of Onset; D000848:Anodontia / Q000150:complications* / Q000473:pathology; D001259:Ataxia / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D001284:Atrophy / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001827:Body Height / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D018450:Disease Progression; D005260:Female; D006801:Humans; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009186:Myelin Sheath / Q000378:metabolism / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D013687:Telencephalon / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology
chemical_list: D007294:Inositol; D002794:Choline