Results 171 to 180 of about 1,648 (197)

Fine mapping of ovine ceroid lipofuscinosisconfirms orthology with CLN6

European Journal of Paediatric Neurology, 2001
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well defined parallels with the human disease at a biochemical and pathological level. The gene for OCL is located in the chromosomal region OAR 7q13-15. This region is syntenic with HSA 15q21-23 suggesting that OCL
M F, Broom, C, Zhou
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Modeling CLN6 with IPSC-derived neural cells

Molecular Genetics and Metabolism, 2019
Neuronal ceroid lipofuscionosis type 6 (CLN6) is a neurodegenerative disease associated with dementia, seizures, and retinopathy. The disorder is due to mutations in the CLN6 gene encoding a resident ER transmembrane protein of unknown function. Similar to other NCLs, the cellular pathology associated with CLN6 includes the abnormal accumulation of ...
Tyler Mark Pierson, Maria Gabriella Otero, David Fabian Nonis, Jaemin Kim   +3 more
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Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

Pediatric Neurology, 2012
Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus ...
Danielle M, Andrade, Tara, Paton, Julie, Turnbull, Christian R, Marshall, Stephen W, Scherer, Berge A, Minassian   +5 more
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Progress toward the Cloning of CLN6, the Gene Underlying a Variant LINCL

Molecular Genetics and Metabolism, 1999
Marked clinical heterogeneity is seen in the late-infantile subtype of NCL (LINCL), complicating genetic analysis. In addition to the classical subtype, encoded by CLN2 on chromosome 11p15.5, several variant subtypes have also been described. In this paper, we report our progress in cloning a variant LINCL gene mapped in a small group of Costa Rican ...
K J, Auger, A, Ajene, T, Lerner
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Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

European Journal of Paediatric Neurology, 2001
CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. Subsequently the critical region was narrowed to less than 1 cM between microsatellite markers D15S988 and D15S1000 by additional marker typing in an expanded family resource.
J D, Sharp, R B, Wheeler, R A, Schultz, J M, Joslin, S E, Mole, R E, Williams, R M, Gardiner   +6 more
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p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.

Clinica chimica acta; international journal of clinical chemistry, 2021
BACKGROUND The neuronal ceroid lipofuscinosis (NCL) are a group of autosomal recessive neurodegenerative disorders that are characterized by the accumulation of ceroid lipofuscins.
Misaki Onodera, Saori Tsujimoto, Syusuke Doi, A. Yamashita, T. Yamazaki, T. Makifuchi, T. Inazu   +6 more
semanticscholar   +1 more source

Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother–sister pair

Neurocase
Neuronal ceroid lipofuscinoses (NCLs) are rare, genetically heterogeneous neurodegenerative disorders involving progressive cognitive, motor, and psychiatric decline.
Shu-Ya Liu, Shih-Jen Tsai, Mu-N Liu
semanticscholar   +1 more source

Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

Pediatric Neurology, 2009
Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed.
Mohammad A, Al-Muhaizea, Zuhair N, Al-Hassnan, Aziza, Chedrawi   +2 more
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Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported mutations.
Julie D, Sharp, Ruth B, Wheeler, Keith A, Parker, R Mark, Gardiner, Ruth E, Williams, Sara E, Mole   +5 more
openaire   +2 more sources

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation

Brain and Development, 2019
Neuronal ceroid lipofuscinoses (NCLs; CLN) are mainly autosomal recessive neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal and other cells. Symptoms include visual disabilities, motor decline, and epilepsy.
Ayumi, Matsumoto, Masako, Nagashima, Kazuhiro, Iwama, Takeshi, Mizuguchi, Shinji, Makino, Takahiro, Ikeda, Kazuhiro, Muramatsu, Naomichi, Matsumoto, Takanori, Yamagata, Hitoshi, Osaka   +9 more
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