title: Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.
abstract: BACKGROUND
  Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs.
  
  
  METHODS
  We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease.
  
  
  RESULTS
  The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene.
  
  
  CONCLUSIONS
  Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pocchiari
authors.forename: Rossella
authors.initials: R
authors.lastname: Petraroli
authors.forename: Mario
authors.initials: M
authors.lastname: Manfredi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Caneve
authors.forename: Giovanni
authors.initials: G
authors.lastname: Coppola
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.forename: Francesco
authors.initials: F
authors.lastname: Saccà
authors.forename: Pedro
authors.initials: P
authors.lastname: Piccardo
authors.forename: Elena
authors.initials: E
authors.lastname: Salvatore
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
authors.forename: Marcello
authors.initials: M
authors.lastname: Orio
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Barbieri
authors.forename: Bernardino
authors.initials: B
authors.lastname: Ghetti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
mesh_terms: D000328:Adult; D000368:Aged; D000682:Amyloid / Q000235:genetics*; D001259:Ataxia / Q000209:etiology; D002531:Cerebellum / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors