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

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Summary.

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.

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Authors and Affiliations

  1. Department of Neurology, Collegium Medicum, Jagiellonian University, Kraków, Poland

    A. Krygowska-Wajs

  2. Section of Neuroscience, Mayo Clinic, Jacksonville, FL, USA

    J. M. Kachergus, M. M. Hulihan & M. J. Farrer

  3. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA

    J. A. Searcy & Z. K. Wszolek

  4. Department of Nuclear Medicine, Academic Medical Center, Amsterdam, The Netherlands

    J. Booij

  5. Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands

    H. W. Berendse & E. Ch. Wolters

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  1. A. Krygowska-Wajs
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  2. J. M. Kachergus
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  3. M. M. Hulihan
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  4. M. J. Farrer
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  6. J. Booij
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  8. E. Ch. Wolters
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  9. Z. K. Wszolek
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Krygowska-Wajs, A., Kachergus, J., Hulihan, M. et al. Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism. J Neural Transm 112, 1487–1502 (2005). https://doi.org/10.1007/s00702-005-0290-8

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