Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

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 eleva...

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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
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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.
AbstractList	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.
Author	Zschocke, J Uhlenberg, B Boltshauser, E Hoffmann, G F Rating, D Martin, E Schmitt-Mechelke, T Weber, L Ebinger, F Wiegand, G Koch, M J Harting, I Wolf, N I
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SubjectTerms	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
Title	Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
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