title: [Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome].
abstract: Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical features of the unusual extrapyramidal syndrome was identified. A role of CLN3 mutations in the development of neurodegenerative disorders is discussed.
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia.
authors.forename: E P
authors.initials: EP
authors.lastname: Nuzhnyi
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia.
authors.forename: A F
authors.initials: AF
authors.lastname: Yakimovskii
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia.
authors.forename: A A
authors.initials: AA
authors.lastname: Timofeeva
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia; Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia.
authors.forename: T S
authors.initials: TS
authors.lastname: Usenko
authors.affiliation: Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia.
authors.forename: M A
authors.initials: MA
authors.lastname: Nikolaev
authors.affiliation: Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia.
authors.forename: A K
authors.initials: AK
authors.lastname: Emelyanov
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia.
authors.forename: V I
authors.initials: VI
authors.lastname: Amosov
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia.
authors.forename: E V
authors.initials: EV
authors.lastname: Bubnova
authors.affiliation: Medical Genetics Center, Moscow, Russia.
authors.forename: A M
authors.initials: AM
authors.lastname: Boukina
authors.affiliation: Medical Genetics Center, Moscow, Russia.
authors.forename: E Yu
authors.initials: EY
authors.lastname: Zakharova
authors.affiliation: Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia; Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia.
authors.forename: S N
authors.initials: SN
authors.lastname: Pchelina
mesh_terms: D000368:Aged; D001480:Basal Ganglia Diseases / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics; D010375:Pedigree; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones