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Neuronal ceroid lipofuscinosis: A case report
Bangabandhu Sheikh Mujib Medical University Journal, 2023
Neuronal ceroid lipofuscinoses (NCL) represent severe neurodegenerative conditions which is one of the lysosomal storage disorders. There are four main clinical forms of NCL among which late infantile variety is the second most common condition.Gopen Kumar Kundu, Masuma Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan +4 moredoaj +1 more sourceThe Neuronal Ceroid-Lipofuscinoses [PDF]
Journal of Neuropathology & Experimental Neurology, 2003 The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. Despite varying ages of onset and clinical course characterized in most instances by progressive mental and motor deterioration, blindness, epileptic seizures ...openaire +2 more sourcesPalmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis [PDF]
, 2012 Recently, mutations in the DNAJC5 gene encoding cysteine-string protein alpha (CSPα) were identified to cause the neurodegenerative disorder adult-onset neuronal ceroid lipofuscinosis.Greaves, J., Chamberlain, Luke, Chamberlain, L. H., Grefen, C., Lemonidis, K., Cruchaga, Carlos, Greaves, Jennifer, Grefen, Christopher, Lemonidis, Kimon, Gorleku, Oforiwa, Cruchaga, C., Gorleku, O. A. +11 morecore +1 more sourceLarge-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. [PDF]
, 2012 Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death.Boustany, Rose-Mary, Ruether Klaus, Martin Klingenspor, Brown, D., Hölter, S.M., Wheeler, V., Staropoli, J., Schrewe, A., Patricia Da Silva-Buttkus, Dirk H. Busch (125319), Ella Dragileva, Martin Hrabě de Angelis, Wolfgang Wurst (712), Wurst, Wolfgang, Raffi Bekeredjian (160215), Jolene Guide, de Angelis, M., Klingenspor Martin, Klopstock, T., Rathkolb, B., Harati, Hayat, Graw Jochen, Harati Hayat, Breton, Sylvie, Wolf Eckhard, Oliver Puk (160194), Frauke Neff, Calzada-Wack, Julia, Jan Rozman, Hrabé de Angelis, Martin, Larissa Haliw (160166), Calzada-Wack, J., Staropoli, J.F., Anja Schrewe, Cotman, S., Garrett, L., Busch, D. H., Julia Calzada-Wack (160181), Klingenspor, Martin, John F Staropoli, Lillian Garrett (160169), Garrett Lillian, Biswas Sunita, Lopez, E., Sun, M., Favor, J., Rose-Mary Boustany (160261), Gale Evan, Hölter, S., Racz, I., Ildikó Racz (5649520), Hill, Eric, Birgit Rathkolb, Klopstock, Thomas, Fuchs, Helmut, Biswas, Sunita, Eckhard Wolf, Krause, D., Fuchs Helmut, Ruether, Klaus, Thure Adler (125314), Busch, D.H., Cotman, S.L., Krause, D.S., Brown, D.E., Busch, D., Klaus Ruether, Raffi Bekeredjian, Jack Favor, Jan Rozman (149181), Hayat Harati (160240), Racz, Ildikó, Anja Schrewe (160188), Evan Gale (160257), Boustany, R., Biswas, S., Fuchs, H., Neff Frauke, Martin Hrabě de Angelis (2579524), Birgit Rathkolb (39867), Haliw, L., Valérie Gailus-Durner, Dragileva Ella, Lillian Garrett, Da Silva-Buttkus Patricia, Daniela S Krause, Helmut Fuchs, Skosyrski, Sergej, Daniela S. Krause (160249), Hill, E., Staropoli John F., Andreas Zimmer (78836), Boustany Rose-Mary, Favor Jack, Patricia Da Silva-Buttkus (160178), Cotman, Susan L., Breton Sylvie, Krause, D. S., Dragileva, Ella, Andreas Zimmer, Thomas Klopstock (160225), Sun Minxuan, Becker, Lore, Sergej Skosyrski, Helmut Fuchs (39863), Hölter, Sabine M., Klaus Ruether (160274), Brown, Diane E., Zimmer Andreas, Hill Eric, Oliver Puk, Da Silva-Buttkus, P., de Angelis Martin Hrabě, Gailus-Durner Valérie, Wolf, Eckhard, Becker Lore, Larissa Haliw, Gale, Evan, Sylvie Breton (160269), Staropoli, J. F., Minxuan Sun (160200), Evan Gale, Zimmer, Andreas, Hrabě de Angelis, M., Sabine M Hölter, Boustany, R. M., Adler, Thure, de Angelis, M. H., Favor, Jack, Racz Ildikó, Jack Favor (160206), Ildikó Racz, Klopstock Thomas, Hölter, S. M., Wurst, W., Jolene Guide (160252), Guide, Jolene, Sun, Minxuan, Gailus-Durner, Valérie, Wolf, E., Brown, D. E., Becker, L., Lore Becker (160172), Guide Jolene, Neff, F., Eric Hill (160245), Sabine M. Hölter (160170), Vanessa C Wheeler, Skosyrski, S., Cotman Susan L., Lopez Edith, Busch, Dirk H., Sunita Biswas (160168), Staropoli, John F., Garrett, Lillian, Julia Calzada-Wack, Wheeler, V.C., Puk, Oliver, Krause, Daniela S., Sun, M. X., Graw, Jochen, Jochen Graw (47527), Haliw, Larissa, Lore Becker, Valérie Gailus-Durner (125329), Schrewe, Anja, Ella Dragileva (136558), Edith Lopez, Brown Diane E., Bekeredjian, R., Wolfgang Wurst, Hölter Sabine M., Puk Oliver, Neff, Frauke, Da Silva-Buttkus, Patricia, Bekeredjian, Raffi, Puk, O., Thure Adler, Thomas Klopstock, Minxuan Sun, Wheeler Vanessa C., Busch Dirk H., Jochen Graw, Wheeler, Vanessa C., Frauke Neff (160183), Wheeler, V. C., Rathkolb, Birgit, Edith Lopez (160236), Bekeredjian Raffi, Rozman, J., Rozman, Jan, Boustany, R.M., Haliw Larissa, Susan L Cotman, Susan L. Cotman (160284), Ruether, K., Harati, H., Diane E. Brown (160264), Rose-Mary Boustany, Graw, J., Sunita Biswas, Sergej Skosyrski (160175), Schrewe Anja, Dragileva, E., Gailus-Durner, V., Sylvie Breton, Eric Hill, Adler Thure, Skosyrski Sergej, Eckhard Wolf (39870), John F. Staropoli (160164), Dirk H Busch, Wurst Wolfgang, Krause Daniela S., Lopez, Edith, Martin Klingenspor (68144), Zimmer, A., Klingenspor, M., Diane E Brown, Rathkolb Birgit, Guide, J., Adler, T., Gale, E., Hayat Harati, Calzada-Wack Julia, Breton, S., Rozman Jan, Cotman, S. L., Vanessa C. Wheeler (136566), Silva-Buttkus, Patricia da +229 morecore +1 more sourceAltered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis
Biology Open, 2013 Summary
Neuronal ceroid lipofuscinoses, the most common fatal childhood neurodegenerative illnesses, share many features with more prevalent neurodegenerative diseases. Neuronal ceroid lipofuscinoses are caused by mutations in CLN genes.Katja M. Kanninen, Alexandra Grubman, Aphrodite Caragounis, Clare Duncan, Sarah J. Parker, Grace E. Lidgerwood, Irene Volitakis, George Ganio, Peter J. Crouch, Anthony R. White +9 moredoaj +1 more sourceMorphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis [PDF]
, 2011 Mutations in the cathepsin D (CTSD) gene cause an aggressive neurodegenerative disease (congenital neuronal ceroid lipofuscinosis) that leads to early death. Recent evidence suggests that presynaptic abnormalities play a major role in the pathogenesis of Koch, Sabine, Cooper, Jonathan D, Svetlana M. Molchanova, Taira, Tomi, Tyynelä, Jaana, Jonathan D. Cooper, Ann K. Wright, Thomas H. Gillingwater, Sabine Koch, Andrew Edwards, Wright, Ann K, Gillingwater, Thomas H, Molchanova, Svetlana M, Jaana Tyynelä, Edwards, Andrew, Tomi Taira +15 morecore +1 more sourceNeuronal ceroid-lipofuscinoses
Translational Science of Rare Diseases, 2017 The neuronal ceroid-lipofuscinoses (NCLs) are a group of recessively inherited diseases characterized by progressive neuronal loss, accumulation of intracellular lipofuscin-like autofluorescent storage material with distinctive ultrastructural features, and clinical signs and symptoms of progressive neurodegeneration. Initially classified by the age of Rakheja Dinesh, Bennett Michael J.openaire +2 more sourcesThe neuronal ceroid lipofuscinoses: opportunities from model systems [PDF]
, 2015 The neuronal ceroid lipofuscinoses are a group of severe and progressive neurodegenerative disorders, generally with childhood onset. Despite the fact that these diseases remain fatal, significant breakthroughs have been made in our understanding of the ...Wager, Kim, Mohammed, Alamin, Bond, Michael, Ahad A. Rahim, Tuxworth, Richard I., Alamin Mohammed, Gutierrez-Quintana, Rodrigo, Tuxworth, Richard I.; id_orcid, Rodrigo Gutierrez-Quintana, Richard I. Tuxworth, Kim Wager, Michael Bond, Rahim, Ahad A., Kiterie M.E. Faller, Faller, Kiterie M.E., Gutierrez Quintana, Rodrigo +15 morecore +1 more source
