Results 41 to 50 of about 1,359 (178)

Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians. [PDF]

Pregnancy (Hoboken)
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Rosenfeld EB, Kasatkin N, Yu BL, Velinov M, Brandt JS, Ashkinadze E.   +5 more
europepmc   +2 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

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 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

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +2 more sources

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

Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease [PDF]

Molecular Therapy, 2019
CLN6-Batten disease, a form of neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder presenting with gradual declines in motor, visual, and cognitive abilities and early death by 12-15 years of age. We developed a self-complementary adeno-associated virus serotype 9 (scAAV9) vector expressing the human CLN6 gene under the control of a ...
Jacob T. Cain, Shibi Likhite, Katherine A. White, Derek J. Timm, Samantha S. Davis, Tyler B. Johnson, Cassandra N. Dennys-Rivers, Federica Rinaldi, Dario Motti, Sarah Corcoran, Pablo Morales, Christopher Pierson, Stephanie M. Hughes, Stella Y. Lee, Brian K. Kaspar, Kathrin Meyer, Jill M. Weimer   +16 more
openaire   +2 more sources

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

A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis [PDF]

BioMed Research International, 2010
The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately fatal. An Australian Shepherd that exhibited a progressive neurological disorder with signs similar to human NCL was evaluated.
Katz, Martin L., Farias, Fabiana H., Sanders, Douglas N., Zeng, Rong, Khan, Shahnawaz, Johnson, Gary S., O'Brien, Dennis P.   +6 more
openaire   +2 more sources