title: Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.
abstract: 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.
authors: Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
authors: N I
authors: NI
authors: Wolf
authors: I
authors: I
authors: Harting
authors: A M
authors: AM
authors: Innes
authors: S
authors: S
authors: Patzer
authors: P
authors: P
authors: Zeitler
authors: A
authors: A
authors: Schneider
authors: A
authors: A
authors: Wolff
authors: K
authors: K
authors: Baier
authors: J
authors: J
authors: Zschocke
authors: F
authors: F
authors: Ebinger
authors: E
authors: E
authors: Boltshauser
authors: D
authors: D
authors: Rating
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000150:complications*; D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009186:Myelin Sheath / Q000502:physiology*; D014071:Tooth Abnormalities / Q000150:complications*