Results 21 to 30 of about 6,644 (221)

Neuronal Ceroid-lipofuscinosis in a Cat [PDF]

Veterinary Pathology, 1995
Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons ...
R, Bildfell, C, Matwichuk, S, Mitchell, P, Ward   +3 more
openaire   +2 more sources

Morphologic 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 more
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“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”

Molecular Genetics and Metabolism Reports, 2021
Introduction: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency.
O.M. Espitia Segura, Z. Hernández, N.I. Mancilla, R.A. Naranjo, L. Tavera   +4 more
doaj   +1 more source

Palmitoylation-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 more
core   +1 more source

The paediatric rheumatologist and orphan disease – a story without happy ending

Rheumatology, 2016
Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent ...
Justyna Roszkiewicz, Małgorzata Biernacka-Zielińska, Elżbieta Smolewska   +2 more
doaj   +1 more source

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 more
doaj   +1 more source

Large-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 more
core   +1 more source

The LINCE Project: A Pathway for Diagnosing NCL2 Disease

Frontiers in Pediatrics, 2022
IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
Daniel Rodrigues, Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, María L. Couce, Cristóbal Colón   +10 more
doaj   +1 more source

MRI findings in neuronal ceroid lipofuscinosis

Radiology Case Reports, 2020
Neuronal ceroid lipofuscinosis is a rare cause for developmental delay and seizures that results in neurodegeneration. Presented here is a case of a 5-year-old male who presented for MRI following a delay in achieving developmental milestones and ...
Anna M. Crain, Deanna L. Kitchen, MD, MPH, Nikhil Godiyal, Cory M. Pfeifer, MD, MPH   +3 more
doaj   +1 more source

Phenotypes of Juvenile Batten Disease

Pediatric Neurology Briefs, 1999
The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj   +1 more source