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.
MeSH terms
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Age of Onset
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Anodontia / complications*
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Anodontia / pathology
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Ataxia / complications*
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Ataxia / pathology
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Ataxia / physiopathology
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Atrophy / complications*
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Atrophy / pathology
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Atrophy / physiopathology
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Basal Ganglia / metabolism
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Basal Ganglia / pathology
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Basal Ganglia / physiopathology
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Body Height / genetics
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Brain / metabolism
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Brain / pathology*
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Brain / physiopathology
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Cerebellum / metabolism
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Cerebellum / pathology*
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Cerebellum / physiopathology
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Child
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Child, Preschool
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Choline / metabolism
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Disease Progression
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Female
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Humans
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Inositol / metabolism
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Magnetic Resonance Imaging
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Magnetic Resonance Spectroscopy
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Myelin Sheath / metabolism
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Myelin Sheath / pathology
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Nerve Fibers, Myelinated / pathology
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Nervous System Malformations / complications*
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Nervous System Malformations / pathology
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Nervous System Malformations / physiopathology
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Syndrome
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Telencephalon / metabolism
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Telencephalon / pathology
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Telencephalon / physiopathology