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 elevation of myo-inositol.
Wolf
N I
NI
Department of Pediatric Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
Harting
I
I
Boltshauser
E
E
Wiegand
G
G
Koch
M J
MJ
Schmitt-Mechelke
T
T
Martin
E
E
Zschocke
J
J
Uhlenberg
B
B
Hoffmann
G F
GF
Weber
L
L
Ebinger
F
F
Rating
D
D
D017668:Age of Onset; D000848:Anodontia / Q000150:complications* / Q000473:pathology; D001259:Ataxia / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D001284:Atrophy / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001827:Body Height / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D018450:Disease Progression; D005260:Female; D006801:Humans; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009186:Myelin Sheath / Q000378:metabolism / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D013687:Telencephalon / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology
D007294:Inositol; D002794:Choline