Neuronal intranuclear inclusion disease and juvenile parkinsonism

Mov Disord. 2000 Sep;15(5):990-5. doi: 10.1002/1531-8257(200009)15:5<990::aid-mds1035>3.0.co;2-i.

Abstract

Juvenile parkinsonism (onset age <20 yrs) is uncommon and few cases with neuropathologic confirmation have been reported. We present the case of a 17-year-old boy who presented with asymmetric arm tremor and bulbar symptoms. His paternal great aunt had parkinsonism with onset at age 22 years. Examination revealed parkinsonism in the absence of additional neurologic signs except for delayed pupillary responses to light. He responded well to levodopa but developed motor fluctuations and disabling dyskinesias after 3 years of treatment. Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later. At autopsy, the dominant histologic feature was wide-spread neuronal hyaline intranuclear inclusions. Neuronal depletion was observed in the substantia nigra, locus ceruleus, and, to a lesser extent, in the frontal cortex, and inclusions were particularly prominent in these areas. Inclusions were immunoreactive for ubiquitin and were typical of those seen in neuronal intranuclear inclusion disease (NIID), a rare, multisytem neurodegenerative disease. NIID should be considered in the differential diagnosis of juvenile parkinsonism. A link between NIID and hereditary neurodegenerative disorders characterized by expanded polyglutamine tracts is supported by the similar appearance of intranuclear inclusions in both conditions and by a family history in some cases of NIID.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / metabolism
  • Brain / pathology*
  • Diagnosis, Differential
  • Fatal Outcome
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / chemistry
  • Inclusion Bodies / pathology*
  • Male
  • Neurodegenerative Diseases / diagnosis*
  • Neurodegenerative Diseases / immunology
  • Neurodegenerative Diseases / pathology
  • Parkinsonian Disorders / diagnosis*
  • Parkinsonian Disorders / immunology
  • Parkinsonian Disorders / pathology
  • Ubiquitins / analysis*
  • Ubiquitins / immunology
  • Videotape Recording

Substances

  • Ubiquitins