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

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.

doi:https://doi.org/10.17116/jnevro20161168150-53

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.

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

DOI: 10.17116/jnevro20161168150-53

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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 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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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.

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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References:

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361(17):1651-1661.
Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco V, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013;70(6):727-735. doi: 10.1001/jamaneurol.2013.1925
Emelyanov A, Boukina T, Yakimovskii A, Usenko T, Drosdova A, Zakharchuk A, Andoskin P, Dubina M, Schwarzman A, Pchelina S. Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia. Mov Disord. 2012;27(1):158-159. doi: 10.1002/mds.23950
Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology. 2013;80(17):1606-1610. doi: 10.1212/wnl.0b013e31828f180e
Kousi M, Lehesjoki AE, Mole SE. Update of the Mutation Spectrum and Clinical Correlations of over 360 Mutations in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses. Hum Mutat. 2012;33:42-63. doi: 10.1002/humu.21624
Zaharova EJu. Ocenka otnositel'nyh chastot i optimizacija metodov biohimicheskoj i molekuljarno-geneticheskoj diagnostiki nasledstvennyh boleznej obmena veshhestv: Dis. ... d-ra med. nauk. M. 2012. (In Russ.).
Taschner PEM, de Vos N, Breuning MH. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele-specific PCR. J Med Genet. 1997;34:955-956. doi: 10.1136/jmg.34.11.955
Luzi P, Rafi MA, Wenger DA. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet. 1995;4:2335-2338. doi: 10.1093/hmg/4.12.2335
Cotman SL, Staropoli JF. The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clin Lipidol. 2012;7(1):79-91. doi: 10.2217/clp.11.70
Getty A, Kovacs AD, Lengyel-Nelson T, Cardillo A, Hof C, Chan CH, Pearce DA. Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. PLoS One. 2013;8(6):66203. doi: 10.1371/journal.pone.0066203
Xiong J, Kielian T. Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype. J Neurochem. 2013;127(2):245-258. doi: 10.1111/jnc.12385
Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. Pediatr Res. 2008;63(6):625-631. doi: 10.1203/pdr.0b013e31816fdc17
Mihajlova SV, Zaharova EJu, Petruhin AS. Nejrometabolicheskie zabolevanija u detej i podrostkov. M.: Litterra; 2011. (In Russ.).
Anzai Y, Hayashi M, Fueki N, Kurata K, Ohya T. Protracted juvenile neuronal ceroid lipofuscinosis - An autopsy report and immunohistochemical analysis. Brain Dev. 2006;28(7):462-465. doi: 10.1016/j.braindev.2005.12.004
Sayit E, Yorulmaz I, Bekis R, Kaya G, Gumuser FG, Dirik E, Durak H. Comparison of brain perfusion SPECT and MRI findings in children with neuronal ceroid-lipofuscinosis and in their families. Ann Nucl Med. 2002;16(3):201-206. doi: 10.1007/bf02996301
Gottlob I, Leipert KP, Kohlschütter A, Goebel HH. Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes. Graefes Arch Clin Exp Ophthalmol. 1988;226(6):516-521. doi: 10.1007/bf02169198
Bergholz R, Kohlschütter A, Schulz A, Hubert W, Rüther K. Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations. Graefes Arch Clin Exp Ophthalmol. 2014. doi: 10.1007/s00417-014-2814-0
Cookson MR, Bandmann O. Parkinson’s disease: insight from pathways, Human Molecular Genetics. 2010;19:21-27. doi: 10.1093/hmg/ddq167
Andoskin PA, Nuzhnyj EP, Emel'janov AK, Nikolaev MA, Jakimovskij AF, Zaharova EJu, Pchelina SN. Uroven' al'fa-sinukleina v plazme krovi u pacientov s lizosomnymi boleznjami nakoplenija. Bolezn' Parkinsona i rasstrojstva dvizhenij. Materialy III Nacional'nogo kongressa. M. 2014;323.(In Russ.).
Kang S, Heo TH, Kim SJ. Altered levels of α-synuclein and sphingolipids in Batten disease lymphoblast cells. Gene. 2014;539(2):181-185. doi: 10.1016/j.gene.2014.02.017
Guldberg P, Henriksen KF, Lou HC, Güttler F. Aberrant phenylalanine metabolism in phenylketonuria heterozygotes. J Inherit Metab Dis. 1998;21:365-372.
Laberge C, Lescault A, Grenier A, Morrisette J, Gagné R, Gadbois P, Halket J. Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I. Am J Hum Genet. 1990;47:329-337.