Results 31 to 40 of about 1,071 (153)

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations [PDF]

Neurology, 2015
To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations.We reviewed the features of 11 patients with different ages at onset.Clinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3.
Canafoglia L, Gilioli I, Invernizzi F, SOFIA, Vito, Fugnanesi V2, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S.   +13 more
openaire   +4 more sources

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]

PLoS ONE, 2011
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman   +6 more
doaj   +1 more source

Altered 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 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

G3: Genes, Genomes, Genetics, 2020
A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were ...
Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons   +6 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in <i>CLN6</i>. [PDF]

Genes (Basel)
A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy.
Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.   +3 more
europepmc   +3 more sources

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

Orphanet Journal of Rare Diseases, 2022
Background Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known ...
R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro   +10 more
doaj   +1 more source

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

iScience, 2021
Summary: The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies.
Katharina Iwan, Robert Clayton, Philippa Mills, Barbara Csanyi, Paul Gissen, Sara E. Mole, David N. Palmer, Kevin Mills, Wendy E. Heywood   +8 more
doaj   +1 more source

Identification of a novel mutation of rare CLN6 case and computation protein structure

European Journal of Biological Research, 2023
Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, jointly account for the highest incidences of hereditary neurodegenerative disease in childhood.
Fozhan Saboori, Nazanin Ghaderi Nejad, Naghmeh Gholipour   +2 more
doaj  

Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment

Frontiers in Neuroscience, 2022
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins.
Mitchell J. Rechtzigel, Brandon L. Meyerink, Brandon L. Meyerink, Hannah Leppert, Tyler B. Johnson, Jacob T. Cain, Gavin Ferrandino, Danielle G. May, Kyle J. Roux, Kyle J. Roux, Jon J. Brudvig, Jon J. Brudvig, Jill M. Weimer, Jill M. Weimer   +13 more
doaj   +1 more source

Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease)

Developmental Neurobiology, 2023
AbstractSheep with naturally occurring CLN5 and CLN6 forms of neuronal ceroid lipofuscinoses (Batten disease) share the key clinical features of the human disease and represent an ideal model system in which the clinical efficacy of gene therapies is developed and test.
Nadia L. Mitchell, Katharina N. Russell, Graham K. Barrell, Imke Tammen, David N. Palmer   +4 more
openaire   +3 more sources