Clinical genetic analysis of Parkinson's disease in the Contursi kindred

Lawrence Golbe, Giuseppe Di Iorio, Giuseppe Sanges, Alice M. Lazzarini, Salvatore La Sala, Vincenzo Bonavita, Roger C. Duvoisin

Research output: Contribution to journalArticle

168 Scopus citations

Abstract

We performed a clinical genetic analysis of a kindred originating in the town of Contursi in Salerno province, Italy, in which 60 individuals in 5 generations are known to have had Parkinson's disease (PD). Two previously reported autopsy cases showed typical PD with Lewy bodies. The inheritance pattern is apparently autosomally dominant with a segregation ratio of 40.1% for kindred members aged 50 years and older. The mean age at PD onset is 45.6 years (standard deviation, 13.48; range, 20-85) with a mean course to death of 9.2 years (standard deviation, 4.87; range, 2-20). Otherwise, clinical characteristics of PD in the kindred, including variance in onset age and incidence of tremor and levodopa responsiveness, are similar to those of PD in the community. The presence of tremor tended to be concordant in affected parent-child pairs, but there was no parent-child correlation for age at onset or intrasibship clustering of tremor or onset age. A suggestion of anticipation disappeared after adjustment for age-related ascertainment bias. The findings show that a presumably single mutation can produce a heterogeneous PD phenotype, even among siblings. This is consistent with the hypothesis that PD in the community may in fact be caused by such a mutation, but one producing a lower penetrance and older age at onset than those in this kindred.

Original languageEnglish (US)
Pages (from-to)767-775
Number of pages9
JournalAnnals of Neurology
Volume40
Issue number5
DOIs
StatePublished - Nov 1996

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Golbe, L., Di Iorio, G., Sanges, G., Lazzarini, A. M., La Sala, S., Bonavita, V., & Duvoisin, R. C. (1996). Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Annals of Neurology, 40(5), 767-775. https://doi.org/10.1002/ana.410400513