The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.

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We have followed up a patient with 8q24.2 --> qter and 15q14 --> pter duplication due to a maternal reciprocal translocation, a condition related to Prader-Willi Syndrome. Apart from dysmorphic features, the patient suffered from recurring episodes of bipolar psychosis. Interestingly, PET scanning revealed revealed prominent bilateral hypometabolism in the frontal, temporal, and parietal lobes as well as in the cerebellum. Possible implications of this rare chromosomal abnormality with regards to psychiatric disorders are discussed, with emphasis on recent evidence suggesting chromosome 15q13-15 as a susceptibility locus for psychosis.

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ResumenHemos seguido a una paciente con duplicación 8q24,2→qter y 15q14→pter debido a una translocación recíproca materna, una alteración relacionada con el síndrome de Prader-Willi. Aparte de rasgos dismórficos, la paciente sufna de episodios recurrentes de psicosis bipolar. De modo interesante, la TEP reveló hipometabolismo bilateral prominente en los lóbulos frontales, temporales y parietales, asi' como en el cerebelo. Se debaten las posibles implicaciones de esta anomalía cromosómica infrecuente con respecto a los trastornos psi-quiátricos, con énfasis en datos recientes que indican el cromosoma 15q13-15 como lugar de susceptibilidad para la psicosis.

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Wolfgang Kress: Das Freilichttheater im Bopserwald. Eine fast vergessene Stätte der Schiller-Verehrung in Stuttgart. Herausgegeben vom Verschönerungsverein Stuttgart (Band 5 seiner Schriftenreihe). Verlag im Ziegelhaus Ulrich Gohl, Stuttgart 2009. 88 Seiten mit zahlreichen Abbildungen. Gebunden € 17.–. ISBN 978-3-925440-17-5

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