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  • Title: Neuronal intranuclear hyaline inclusion disease in a nine year old.
    Author: Garen PD, Powers JM, Young GF, Lee V.
    Journal: Acta Neuropathol; 1986; 70(3-4):327-32. PubMed ID: 3020863.
    Abstract:
    Thirteen previous cases have been reported as neuronal intranuclear hyaline inclusion disease. The majority of patients have presented with movement disorders at less than 12 years of age followed by a progressive worsening of symptoms and, frequently, loss of cognitive function. Death has usually occurred by the second or third decade. Three have presented in the fifth through seventh decade with either movement disorders or dementia. These cases have been linked by the presence of eosinophilic neuronal intranuclear inclusions diffusely within the CNS and in peripheral ganglion cells. The patient in this case report also presented with a rapidly progressive movement disorder and at autopsy showed the characteristic intranuclear inclusions. Investigation of these inclusions did not reveal shared epitopes with neurofilaments or other intermediate filaments.
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