Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism

Z. K. Wszolek, K. Gwinn-Hardy, E. K. Wszolek, M. D. Muenter, R. F. Pfeiffer, R. L. Rodnitzky, R. J. Uitti, R. D. McComb, T. Gasser, D. W. Dickson

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


We present genealogical and longitudinal clinical observations and autopsy findings of a previously reported kindred, Family C (German-American), with lateonset autosomal dominant parkinsonism with evidence for linkage on chromosome 2p13. The clinical phenotype includes the cardinal features of idiopathic Parkinson's disease. In addition, postural tremor and dementia are detected in some individuals. Two members of the kindred, one affected and one unaffected have recently come to autopsy. The unaffected family member was an 82-year-old woman whose brain showed only mild age-related pathology and no evidence of subclinical Lewy body disease. In contrast, the affected family member was an 83-year-old man whose brain had neuronal loss, gliosis and Lewy bodies in the substantia nigra and other monoaminergic brain stem nuclei, as well as the basal forebrain and amygdala. Lewy bodies and Lewy neurites had a distribution typical of cases of idiopathic Parkinson's disease. Thus, the clinical and pathological findings in this family with autosomal dominant parkinsonism are similar to those of sporadic Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)344-350
Number of pages7
JournalActa neuropathologica
Issue number4
StatePublished - 2002


  • Chromosome 2p
  • Familial parkinsonism
  • Family C (German-American)
  • Neuropathology
  • Synuclein

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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