CLN6 disease caused by the same mutation originating in Pakistan has varying pathology
European Journal of Paediatric Neurology, 2013 The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative diseases in children, are characterised by storage of autofluorescent material that has a characteristic ultrastructure. We report two families with variant late infantile NCL, both originating from Pakistan. Probands from both families were homozygous for the same mutation (c.
Rita Guerreiro +2 more
exaly +3 more sources
Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep [PDF]
Journal of Neuroscience Research, 2007 AbstractThe neuronal ceroid lipofuscinoses (NCLs; Batten disease) are a group of fatal inherited neurodegenerative diseases in humans and animals distinguished by a common clinical pathology, characteristic storage body accumulation in cells, and gross brain atrophy.
, David Palmer
exaly +3 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
Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]
World J Clin Cases, 2023 BACKGROUND Adult neuronal ceroid lipofuscinosis (ANCL) can be caused by compound heterozygous recessive mutations in CLN6. The main clinical features of the disease are neurodegeneration, progressive motor dysfunction, seizures, cognitive decline, ataxia,
Wang XQ +4 more
europepmc +2 more sources
Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. [PDF]
Brain Commun, 2023 Neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited lysosomal storage disorders characterized by progressive neurodegeneration leading to motor and cognitive dysfunction, seizure activity and blindness.
Murray SJ +10 more
europepmc +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
Epilepsy Research, 2023 Progressive myoclonic epilepsies (PMEs) are a group of neurodegenerative disorders, predominantly affecting adolescents and, characterized by generalized worsening myoclonus epilepsies, ataxia, cognitive deficits, and dementia.
Muhammad Ilyas +7 more
semanticscholar +1 more source
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 +13 more
openaire +4 more sources