Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1

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DOI

  • Raquel Ros, Universidad Autonoma de Madrid
  • ,
  • Pilar Gómez Garre, Universidad Autonoma de Madrid
  • ,
  • Michio Hirano, Neurological Institute
  • ,
  • Yen F. Tai, Hammersmith Hospital
  • ,
  • Israel Ampuero, Universidad Autonoma de Madrid
  • ,
  • Lídice Vidal, Universidad Autonoma de Madrid
  • ,
  • Ana Rojo, Universidad Autonoma de Madrid
  • ,
  • Aurora Fontan, Universidad Autonoma de Madrid
  • ,
  • Ana Vazquez, Universidad Autonoma de Madrid
  • ,
  • Samira Fanjul, Universidad Autonoma de Madrid
  • ,
  • Jaime Hernandez, Universidad Autonoma de Madrid
  • ,
  • Susana Cantarero, Universidad Autonoma de Madrid
  • ,
  • Janet Hoenicka, Universidad Autonoma de Madrid
  • ,
  • Alison Jones, Neurological Institute
  • ,
  • R. Laila Ahsan, Hammersmith Hospital
  • ,
  • Nicola Pavese
  • Paola Piccini, Hammersmith Hospital
  • ,
  • David J. Brooks
  • Jordi Perez-Tur, Universitat Politècnica de València
  • ,
  • Torbjorn Nyggard, Neurological Institute
  • ,
  • Justo G. De Yébenes, Universidad Autonoma de Madrid, Hospital Universitario Gregorio Marañón

Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case. At least five ancestors had similar disease. Other members of the family have incomplete phenotypes. The power of the linkage analysis was increased by detecting presymptomatic individuals with 18F-fluoro-dopa and 18F-deoxyglucose positron emission tomography. We screened the human genome with 340 polymorphic markers and we enriched the areas of interest with additional markers. The disease status was defined according to the clinical and positron emission tomography data. We excluded linkage to the tau gene in chromosome 17. PSP was linked, in this family, to one area of 3.4cM in chromosome 1q31.1, with a maximal multipoint < OD score of +3.53. This area contains at least three genes, whose relevance in PSP is unknown. We expect to further define the gene responsible for PSP, which could help to understand the pathogenesis of this disease and to design effective treatment.

Original languageEnglish
JournalAnnals of Neurology
Volume57
Issue5
Pages (from-to)634-641
Number of pages8
ISSN0364-5134
DOIs
Publication statusPublished - 1 May 2005
Externally publishedYes

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