Human Genetics

, Volume 111, Issue 4–5, pp 323–330 | Cite as

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

  • Gerald Stöber
  • Dominik Seelow
  • Franz Rüschendorf
  • Arif Ekici
  • Helmut Beckmann
  • André Reis
Original Investigation

Abstract.

We earlier reported significant evidence for linkage on chromosome 15q15 in periodic catatonia, a sub-phenotype of schizophrenic psychoses. The disorder is characterized by qualitative hyperkinetic and akinetic psychomotor disturbances through acute psychotic episodes and debilitating symptoms in the long term, with psychomotor weakness, grimacing facial movements and apathy. Here, we confirm mapping of a major gene locus on chromosome 15q15 in a second genome scan in a new set of four multiplex families. Non-parametric multipoint linkage analyses identified a broad region with a maximum peak of Zall =3.91 (P=0.006) and Zlr =3.04 at D15S1234 (P=0.001), satisfying conventional criteria for confirmed linkage. Parametric affected-only analyses under an autosomal dominant model gave a maximum HLOD score of 1.65 (D15S1234) with an estimated 47% of families being linked. Analysis of individual families showed that one large family showed linkage, whereas two others could be clearly excluded, confirming genetic heterogeneity. No other locus reached suggestive levels of significance. Haplotype analysis on chromosome 15 in this and previously linked families placed the susceptibility region to a 11-cM interval between marker D15S1042 and D15S659. Periodic catatonia is the first sub-phenotype of schizophrenic psychoses with confirmed linkage despite the existence of considerable genetic heterogeneity.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Gerald Stöber
    • 1
  • Dominik Seelow
    • 2
  • Franz Rüschendorf
    • 3
  • Arif Ekici
    • 3
  • Helmut Beckmann
    • 1
  • André Reis
    • 3
  1. 1.Department of Psychiatry and Psychotherapy, University of Würzburg, Füchsleinstrasse 15, 97080 Würzburg, Germany
  2. 2.Fachbereich Biologie, Chemie, Pharmazie, Free University Berlin, Takustrasse 3, 14195 Berlin, Germany
  3. 3.Max-Delbrück-Center for Molecular Medicine, Molecular Genetics and Gene Mapping Center, Robert-Rössle-Strasse 10, 13125 Berlin, Germany

Personalised recommendations