Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

• Published in: Neurology Vol. 64; no. 8; p. 1461
• Main Authors: Wolf, N I, Harting, I, Boltshauser, E, Wiegand, G, Koch, M J, Schmitt-Mechelke, T, Martin, E, Zschocke, J, Uhlenberg, B, Hoffmann, G F, Weber, L, Ebinger, F, Rating, D
• Format: Journal Article
• Language: English
• Published: United States 26.04.2005
• Subjects: Age of Onset; Anodontia - complications; Anodontia - pathology; Ataxia - complications; Ataxia - pathology; Ataxia - physiopathology; Atrophy - complications; Atrophy - pathology; Atrophy - physiopathology; Basal Ganglia - metabolism; Basal Ganglia - pathology; Basal Ganglia - physiopathology; Body Height - genetics; Brain - metabolism; Brain - pathology; Brain - physiopathology; Cerebellum - metabolism; Cerebellum - pathology; Cerebellum - physiopathology; Child; Child, Preschool; Choline - metabolism; Disease Progression; Female; Humans; Inositol - metabolism; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Myelin Sheath - metabolism; Myelin Sheath - pathology; Nerve Fibers, Myelinated - pathology; Nervous System Malformations - complications; Nervous System Malformations - pathology; Nervous System Malformations - physiopathology; Syndrome; Telencephalon - metabolism; Telencephalon - pathology; Telencephalon - physiopathology
• ISSN: 1526-632X
• DOI: 10.1212/01.WNL.0000158615.56071.E3

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.