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Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

2007; Thieme Medical Publishers (Germany); Volume: 38; Issue: 2 Linguagem: Inglês

10.1055/s-2007-985137

1439-1899

Nicole I. Wolf, Inga Harting, A. Micheil Innes, S. Patzer, Philip Zeitler, Andrea Schneider, Ashley Wolff, Kurt Baier, Johannes Zschocke, Friedrich Ebinger, Eugen Boltshauser, D. Rating,

Endoplasmic Reticulum Stress and Disease

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 myo-inositol. 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.