Ataxia, delayed dentition and hypornyelination: A novel Leukoencephalopathy

被引：46

作者：

Wolf, N. I. ^{[1
]}

Harting, I. ^{[1
]}

Innes, A. M. ^{[1
]}

Patzer, S. ^{[1
]}

Zeitler, P. ^{[1
]}

Schneider, A. ^{[1
]}

Wolff, A. ^{[1
]}

Baier, K. ^{[1
]}

Zschocke, J. ^{[1
]}

Ebinger, F. ^{[1
]}

Boltshauser, E. ^{[1
]}

Rating, D. ^{[1
]}

机构：

[1] Univ Childrens Hosp, Dept Neuropaediat, D-69120 Heidelberg, Germany

来源：

NEUROPEDIATRICS | 2007年 / 38卷 / 02期

关键词：

ataxia; hypodontia; delayed dentition; hypomyelination; cerebellar atrophy; PELIZAEUS-MERZBACHER-DISEASE; SPINAL-CORD INVOLVEMENT; INITIATION-FACTOR EIF2B; N-ACETYLASPARTYLGLUTAMATE; BRAIN-STEM; PROTEIN; MUTATIONS; HYPOMYELINATION; LEUKODYSTROPHY; HYPODONTIA;

D O I：

10.1055/s-2007-985137

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy. Dental radiographs showed variable absence of succedaneous teeth. Proton MR spectroscopy in one child showed elevated white matter myoinositol. As the clinical and radiological picture in these patients is identical to that of four cases described earlier, we suggest that this disorder with ataxia, delayed dentition and hypomyelination (ADDH) represents a new entity. With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect.

引用

页码：64 / 70

页数：7

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