Identification of a novel mutation of rare CLN6 case and computation protein structure [PDF]
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 +2 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.
Mhlanga-Mutangadura T +3 more
europepmc +4 more sources
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 DisordAbstract 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 +7 more
europepmc +2 more sources
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Biochemical and Biophysical Research Communications, 2009 The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders with typical autofluorescence material stored in tissues. Ten clinical NCL forms and eight causative genes are known.
Barzaghi C. +21 more
core +4 more sources
Neurobiology of Disease, 2008 The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases. Sheep affected with the CLN6 form provide a valuable model to investigate underlying disease mechanisms from preclinical stages.
David Palmer +2 more
exaly +3 more sources
CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2023 Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation.
Daniel Eduardo Manrique Hernandez +3 more
doaj +1 more source
Weak evidence for a relation between bipolar disorder and heterozygous ZNF92 and CLN6 variants [PDF]
Brazilian Journal of Psychiatry, 2023 Josef Finsterer +3 more
doaj +2 more sources
Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis. [PDF]
PLoS ONE, 2012 Variant late-infantile neuronal ceroid lipofuscinosis, a fatal lysosomal storage disorder accompanied by regional atrophy and pronounced neuron loss in the brain, is caused by mutations in the CLN6 gene.
Melanie Thelen +7 more
doaj +1 more source
Lipofuscinosis ceroidea neuronal 6 (enfermedad Kufs tipo A): Reporte de caso en Colombia
Acta Neurológica Colombiana, 2021 INTRODUCCIÓN: Las lipofuscinosis ceroideas neuronales (CLN) son un grupo de enfermedades neurodegenerativas de inicio generalmente en la infancia, caracterizadas por acumulación intracelular de material de almacenamiento autofluorescente.
Diana Vanessa González Pabón +2 more
doaj +1 more source
A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease. [PDF]
PLoS ONE, 2013 Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders.
Jeremy P Morgan +6 more
doaj +1 more source