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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| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
April 25, 2005
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| In: |
Neurology
Year: 2005, Volume: 64, Issue: 8, Pages: 1461-1464 |
| ISSN: | 1526-632X |
| DOI: | 10.1212/01.WNL.0000158615.56071.E3 |
| Online Access: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1212/01.WNL.0000158615.56071.E3 Verlag, lizenzpflichtig, Volltext: https://n.neurology.org/content/64/8/1461 |
| Author Notes: | N.I. Wolf, I. Harting, E. Boltshauser, G. Wiegand, M.J. Koch, T. Schmitt-Mechelke, E. Martin, J. Zschocke, B. Uhlenberg, G.F. Hoffmann, L. Weber, F. Ebinger, and D. Rating |
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| 520 | |a 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. | ||
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