Leukoencephalopathy with ataxia, hypodontia, and hypomyelination - PubMed (original) (raw)
Case Reports
. 2005 Apr 26;64(8):1461-4.
doi: 10.1212/01.WNL.0000158615.56071.E3.
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, D Rating
Affiliations
- PMID: 15851747
- DOI: 10.1212/01.WNL.0000158615.56071.E3
Case Reports
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
N I Wolf et al. Neurology. 2005.
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.
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