Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism

A. Krygowska-Wajs, J. M. Kachergus, M. M. Hulihan, M. J. Farrer, J. A. Searcy, J. Booij, H. W. Berendse, E. Ch Wolters, Z. K. Wszolek

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

We studied 8 large Polish families with parkinsonism, 6 of which were newly identified. Thirty-six family members had well-documented levodopa-responsive parkinsonism. The phenotype of affected individuals was indistinguishable from that of persons with idiopathic Parkinson disease (PD). The pattern of inheritance in 5 families was consistent with autosomal dominant transmission; in 3 families the mode of inheritance was uncertain. Single photon emission computed tomography (SPECT) studies with the dopamine transporter radioligand [123I]FP-CIT were performed in 1 family. The SPECT study showed striatal presynaptic dopaminergic degeneration consistent with sporadic PD in 1 affected family member and no signs of nigrostriatal dopaminergic dysfunction in 5 at-risk individuals. Sequence analysis in all 8 families excluded known genes associated with familial parkinsonism. Genome-wide 2-point linkage studies in the largest 2 families did not identify significant linkage (z > 3.0), although positive scores were obtained for 5q23 (D5S1462 and D5S2501), a locus previously implicated in disease susceptibility.

Original languageEnglish (US)
Pages (from-to)1487-1502
Number of pages16
JournalJournal of Neural Transmission
Volume112
Issue number11
DOIs
StatePublished - Nov 1 2005

Keywords

  • Anticipation
  • Dopamine transporter
  • Familial parkinsonism
  • Molecular genetics
  • SPECT

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry

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    Krygowska-Wajs, A., Kachergus, J. M., Hulihan, M. M., Farrer, M. J., Searcy, J. A., Booij, J., Berendse, H. W., Wolters, E. C., & Wszolek, Z. K. (2005). Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism. Journal of Neural Transmission, 112(11), 1487-1502. https://doi.org/10.1007/s00702-005-0290-8