Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Zbigniew K. Wszolek, R. F. Pfeiffer, Y. Tsuboi, R. J. Uitti, R. D. McComb, A. J. Stoessl, A. J. Strongosky, A. Zimprich, B. Müller-Myhsok, M. J. Farrer, T. Gasser, D. B. Calne, D. W. Dickson

Research output: Contribution to journalArticle

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Abstract

Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARK8 locus on chromosome 12.

Original languageEnglish (US)
Pages (from-to)1619-1622
Number of pages4
JournalNeurology
Volume62
Issue number9
DOIs
StatePublished - May 11 2004

ASJC Scopus subject areas

  • Clinical Neurology

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    Wszolek, Z. K., Pfeiffer, R. F., Tsuboi, Y., Uitti, R. J., McComb, R. D., Stoessl, A. J., Strongosky, A. J., Zimprich, A., Müller-Myhsok, B., Farrer, M. J., Gasser, T., Calne, D. B., & Dickson, D. W. (2004). Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology, 62(9), 1619-1622. https://doi.org/10.1212/01.WNL.0000125015.06989.DB