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Symptoms onset was between 6 months and 2 years of age. In nine patients the clinical course was typical, with rapid motor and mental deterioration; in four patients progression was slower and the clinical picture was different. Electromyo graphic (EMG) signs of chronic denervation, fast rhythms on EEG and abnormal visual evoked potentials were observed in all patients during the disease course. Cerebellar atrophy with signal hyperintensity in the cerebellar cortex on T2-weighted images we re the most characteristic MRI findings; hypointensity in the pallida and substantia nigra was also observed in two patients. Alpha-N-acetyl-galactosaminidase activity on leukocytes was normal in the 10 patients tested. EMG and MRI abnormalities are the earliest and most suggestive signs of INAD, which has a clinical and radiologic spectrum that is broader than reported previously. |
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blindness
cerebellar atrophy,primary
cerebellar degeneration
children
dementia
dementia,childhood
electromyogram
gait disorder
hypotonia
MRI
MRI,abnormal
MRI,high signal foci on
neuroaxonal dystrophy
neuroaxonal dystrophy,infantile
neurologic disease,diagnoses of
optic atrophy
quadriplegia
skin,biopsy
vision,failure of in childhood
visual evoked response
visual impairment
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