title: Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
abstract: Steele-Richardson-Olszewski syndrome (SROS) is a neurodegenerative disorder of unknown aetiology, most frequently sporadic. Familial cases of SROS have been described. An intronic polymorphism of the tau gene is associated with sporadic SROS and mutations of the tau gene are present in atypical cases of SROS. The role of tau has been excluded in other families with pathology proven SROS, suggesting that this syndrome may have multiple causes. An 82-year-old patient, father of 3 children with autosomal recessive juvenile parkinsonism due to combined heterozygous mutations of the parkin gene, developed clinical features of SROS 2 years before death. The diagnosis was confirmed by pathology. He carried the C212Y mutation of the parkin gene and was homozygous for the A0 polymorphism and for the H1 haplotype. The role of parkin in the processing of tau is discussed.
authors.affiliation: Hospital Universitario, San Cecilio, Granada.
authors.forename: Blas
authors.initials: B
authors.lastname: Morales
authors.forename: Armando
authors.initials: A
authors.lastname: Martínez
authors.forename: Isabel
authors.initials: I
authors.lastname: Gonzalo
authors.forename: Lidice
authors.initials: L
authors.lastname: Vidal
authors.forename: Raquel
authors.initials: R
authors.lastname: Ros
authors.forename: Estrella
authors.initials: E
authors.lastname: Gomez-Tortosa
authors.forename: Alberto
authors.initials: A
authors.lastname: Rabano
authors.forename: Israel
authors.initials: I
authors.lastname: Ampuero
authors.forename: Marina
authors.initials: M
authors.lastname: Sánchez
authors.forename: Janet
authors.initials: J
authors.lastname: Hoenicka
authors.forename: Justo
authors.initials: J
authors.lastname: García De Yébenes
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D044767:Ubiquitin-Protein Ligases; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases