Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome

• Published in: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Vol. 116; no. 8; p. 50
• Main Authors: Nuzhnyi, E P, Yakimovskii, A F, Timofeeva, A A, Usenko, T S, Nikolaev, M A, Emelyanov, A K, Amosov, V I, Bubnova, E V, Boukina, A M, Zakharova, E Yu, Pchelina, S N
• Format: Journal Article
• Language: Russian
• Published: Russia (Federation) 2016
• Subjects: Aged; Basal Ganglia Diseases - genetics; Female; Genetic Testing; Heterozygote; Humans; Leukodystrophy, Globoid Cell - genetics; Male; Membrane Glycoproteins - genetics; Molecular Chaperones - genetics; Parkinson Disease - genetics; Pedigree; Sequence Deletion; Syndrome
• DOI: 10.17116/jnevro20161168150-53
• ISSN: 1997-7298

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.