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

Nuzhnyi E.P.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia

Iakimovskiĭ A.F.

Timofeeva A.A.

Usenko T.S.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia;
Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia

Nikolaev M.A.

Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia

Emel'ianov A.K.

Amosov V.I.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia

Bubnova Е.V.

Neurology and Neurosurgery Chair and Clinic of the First Pavlov State Medical University of St. Petersburg of the Ministry of Health of the Russian Federation, Saint Petersburg, Russia

Boukina A.M.

Medical Genetics Center, Moscow, Russia

Zakharova E.Iu.

Mediko-geneticheskiĭ tsentr RAMN

Pchelina S.N.

Sankt-Peterburgskiĭ institut iadernoĭ fiziki im. B.P. Konstantinova RAN;
Sankt-Peterburgskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. akad. I.P. Pavlova Roszdrava

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

Authors:

Nuzhnyi E.P., Iakimovskiĭ A.F., Timofeeva A.A., Usenko T.S., Nikolaev M.A., Emel'ianov A.K., Amosov V.I., Bubnova Е.V., Boukina A.M., Zakharova E.Iu., Pchelina S.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(8): 50‑53

DOI: 10.17116/jnevro20161168150-53

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To cite this article:

Nuzhnyi EP, Iakimovskiĭ AF, Timofeeva AA, et al. . Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome. S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(8):50‑53. (In Russ.)
https://doi.org/10.17116/jnevro20161168150-53

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)

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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.

Keywords:

Parkinson’s disease

neurodegeneration

lysosomal storage diseases

neuronal ceroid lipofuscinosis

Authors:

Nuzhnyi E.P.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia

Iakimovskiĭ A.F.

Timofeeva A.A.

Usenko T.S.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia;
Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia

Nikolaev M.A.

Konstantinov St. Petersburg Institute of Nuclear Physics, St. Petersburg, Russia

Emel'ianov A.K.

Amosov V.I.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia

Bubnova Е.V.

Neurology and Neurosurgery Chair and Clinic of the First Pavlov State Medical University of St. Petersburg of the Ministry of Health of the Russian Federation, Saint Petersburg, Russia

Boukina A.M.

Medical Genetics Center, Moscow, Russia

Zakharova E.Iu.

Mediko-geneticheskiĭ tsentr RAMN

Pchelina S.N.

Sankt-Peterburgskiĭ institut iadernoĭ fiziki im. B.P. Konstantinova RAN;
Sankt-Peterburgskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. akad. I.P. Pavlova Roszdrava

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