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neuronal ceroid lipofuscinosis

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https://www.readbyqxmd.com/read/27903347/-clinical-genetic-and-pathological-features-of-neuronal-ceroid-lipofuscinosis-in-5-chinese-patients
#1
S C Ren, B Q Gao, Y J Wang, X J Wu, Z X Tian, Y L Sun
Objective: To report the clinical, genetic and ultrastructural pathological features of neuronal ceroid lipofuscinosis (NCLs) in 5 Chinese patients. Methods: A total of 5 patients with NCLs were collected from 2013 to 2015 diagnosed by the department of pediatrics of Beijing Tian Tan Hospital. Their clinical, electrophysiological and neuroimaging data of the patients were reviewed.A total of 9 underlying genes of NCLs were tested in 4 cases and their parents.Ultrastructural pathology by skin biopsy was performed in 3 cases respectively...
November 22, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27881166/using-the-social-amoeba-dictyostelium-to-study-the-functions-of-proteins-linked-to-neuronal-ceroid-lipofuscinosis
#2
REVIEW
Robert J Huber
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults. Thirteen genetically distinct genes have been identified that when mutated, result in abnormal lysosomal function and an excessive accumulation of ceroid lipofuscin in neurons, as well as other cell types outside of the central nervous system. The NCL family of proteins is comprised of lysosomal enzymes (PPT1/CLN1, TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN/CLN11), and several proteins that display different subcellular localizations (CLN3, CLN6, MFSD8/CLN7, CLN8, ATP13A2/CLN12)...
November 24, 2016: Journal of Biomedical Science
https://www.readbyqxmd.com/read/27867988/a-canine-model-for-neuronal-ceroid-lipofuscinosis-highlights-the-promise-of-gene-therapy-for-lysosomal-storage-diseases
#3
EDITORIAL
Jonathan E Phillips, Richard H Gomer
No abstract text is available yet for this article.
October 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27844444/exome-sequencing-identifies-a-novel-homozygous-cln8-mutation-in-a-turkish-family-with-northern-epilepsy
#4
Yavuz Sahin, Olcay Güngör, Zeliha Gormez, Huseyin Demirci, Bekir Ergüner, Gülay Güngör, Cengiz Dilber
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL...
November 14, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27804148/efficacy-of-phosphodiesterase-4-inhibitors-in-juvenile-batten-disease-cln3
#5
Amy Aldrich, Megan E Bosch, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kakulavarapu V Rama Rao, Jonathan D Cooper, Arlene V Drack, Tammy Kielian
OBJECTIVE: Juvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death. Currently, there is no treatment for JNCL that slows disease progression, which highlights the need to explore novel strategies to extend the survival and quality of life of afflicted children. Cyclic adenosine monophosphate (cAMP) is a second messenger with pleiotropic effects, including regulating neuroinflammation and neuronal survival...
November 2, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27778018/neuronal-ceroid-lipofuscinosis-in-an-adult-american-staffordshire-terrier
#6
Anna Nolte, Aimara Bello, Michaela Drögemüller, Tosso Leeb, Eva Brockhaus, Wolfgang Baumgärtner, Peter Wohlsein
A female, 5-year-old American Staffordshire Terrier with severe progressive neurological deficits, particularly in terms of ataxia and keeping balance, was examined pathomorphologically and a genetic analysis was performed. In neurons of various localizations of the central nervous system an accumulation of a finely granular pale eosinophilic or light brown material was found. In addition, the cerebellum revealed marked degeneration and loss of Purkinje and inner granule cells. The accumulated PAS-positive, argyrophilic, autofluorescent material showed ultrastructurally a lamellar appearance suggestive of lipofuscin...
October 25, 2016: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/27770614/lysosomal-storage-of-subunit-c-of-mitochondrial-atp-synthase-in-brain-specific-atp13a2-deficient-mice
#7
Shigeto Sato, Masato Koike, Manabu Funayama, Junji Ezaki, Takahiro Fukuda, Takashi Ueno, Yasuo Uchiyama, Nobutaka Hattori
Kufor-Rakeb syndrome (KRS) is an autosomal recessive form of early-onset parkinsonism linked to the PARK9 locus. The causative gene for KRS is Atp13a2, which encodes a lysosomal type 5 P-type ATPase. We recently showed that KRS/PARK9-linked mutations lead to several lysosomal alterations, including reduced proteolytic processing of cathepsin D in vitro. However, it remains unknown how deficiency of Atp13a2 is connected to lysosomal impairments. To address this issue, we analyzed brain tissues of Atp13a2 conditional-knockout mice, which exhibited characteristic features of neuronal ceroid lipofuscinosis, including accumulation of lipofuscin positive for subunit c of mitochondrial ATP synthase, suggesting that a common pathogenic mechanism underlies both neuronal ceroid lipofuscinosis and Parkinson disease...
October 19, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27766444/flunarizine-rescues-reduced-lifespan-in-cln3-triple-knock-out-caenorhabditis-elegans-model-of-batten-disease
#8
Young Joon Kwon, Marni J Falk, Michael J Bennett
CLN3 disease (Spielmeyer-Vogt-Sjogren-Batten disease, previously known as classic juvenile neuronal ceroid lipofuscinosis, NCL) is a pediatric-onset progressive neurodegenerative disease characterized by progressive vision loss, seizures, loss of cognitive and motor function, and early death. While no precise biochemical mechanism or therapies are known, the pathogenesis of CLN3 disease involves intracellular calcium accumulation that may trigger apoptosis. Our prior work in in vitro cell models of CLN3 deficiency suggested that FDA-approved calcium channel antagonists may have therapeutic value...
October 20, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27765741/mri-brain-volume-measurements-in-infantile-neuronal-ceroid-lipofuscinosis
#9
E H Baker, S W Levin, Z Zhang, A B Mukherjee
BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N-acetyl cysteine, we made serial measurements of patients' brain volumes with MR imaging...
October 20, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#10
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27722792/decreased-sensitivity-of-palmitoyl-protein-thioesterase-1-deficient-neurons-to-chemical-anoxia
#11
Meredith Meyer, Attila D Kovács, David A Pearce
Infantile CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis, is a fatal childhood neurodegenerative disorder caused by mutations in the CLN1 gene. CLN1 encodes a soluble lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1), and it is still unclear why neurons are selectively vulnerable to the loss of PPT1 enzyme activity in infantile CLN1 disease. To examine the effects of PPT1 deficiency on several well-defined neuronal signaling and cell death pathways, different toxic insults were applied in cerebellar granule neuron cultures prepared from wild type (WT) and palmitoyl protein thioesterase 1-deficient (Ppt1 (-/-) ) mice, a model of infantile CLN1 disease...
October 8, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27669405/aberrant-adhesion-impacts-early-development-in-a-dictyostelium-model-for-juvenile-neuronal-ceroid-lipofuscinosis
#12
Robert J Huber, Michael A Myre, Susan L Cotman
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, refers to a group of severe neurodegenerative disorders that primarily affect children. The most common subtype of the disease is caused by loss-of-function mutations in CLN3, which is conserved across model species from yeast to human. The precise function of the CLN3 protein is not known, which has made targeted therapy development challenging. In the social amoeba Dictyostelium discoideum, loss of Cln3 causes aberrant mid-to-late stage multicellular development...
September 26, 2016: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/27668283/mutated-ctsf-in-adult-onset-neuronal-ceroid-lipofuscinosis-and-ftd
#13
Julie van der Zee, Peter Mariën, Roeland Crols, Sara Van Mossevelde, Lubina Dillen, Federica Perrone, Sebastiaan Engelborghs, Jo Verhoeven, Tine D'aes, Chantal Ceuterick-De Groote, Anne Sieben, Jan Versijpt, Patrick Cras, Jean-Jacques Martin, Christine Van Broeckhoven
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD). METHODS: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing. RESULTS: We identified a homozygous mutation (p...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27637672/intravitreal-implantation-of-tpp1-transduced-stem-cells-delays-retinal-degeneration-in-canine-cln2-neuronal-ceroid-lipofuscinosis
#14
Christopher J Tracy, Rebecca E H Whiting, Jacqueline W Pearce, Baye G Williamson, Daniella P Vansteenkiste, Lauren E Gillespie, Leilani J Castaner, Jeffrey N Bryan, Joan R Coates, Cheryl A Jensen, Martin L Katz
The CLN2 form of neuronal ceroid lipofuscinosis is a neurodegenerative disease that results from mutations in the TPP1 gene. Affected children exhibit progressive declines in most neurological functions including vision. Functional declines are accompanied by progressive brain and retinal atrophy. TPP1 encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Dachshunds with a TPP1 null mutation exhibit a disorder very similar to human CLN2 disease. Periodic infusion of recombinant TPP1 protein or a single injection of a TPP1 gene therapy vector into the cerebrospinal fluid of affected dogs significantly delays the onset and progression of neurological signs but does not slow vision loss or retinal degeneration...
September 13, 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27629717/self-complementary-aav9-gene-delivery-partially-corrects-pathology-associated-with-juvenile-neuronal-ceroid-lipofuscinosis-cln3
#15
Megan E Bosch, Amy Aldrich, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kaitlyn Schuberth, Julie A Fitzgerald, Kevin D Foust, Tammy Kielian
UNLABELLED: Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal-recessive mutations in CLN3 for which no treatment exists. Symptoms appear between 5 and 10 years of age, beginning with blindness and seizures, followed by progressive cognitive and motor decline and premature death (late teens to 20s). We explored a gene delivery approach for JNCL by generating two self-complementary adeno-associated virus 9 (scAAV9) constructs to address CLN3 dosage effects using the methyl-CpG-binding protein 2 (MeCP2) and β-actin promoters to drive low versus high transgene expression, respectively...
September 14, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27553878/diagnosis-of-neuronal-ceroid-lipofuscinosis-type-2-cln2-disease-expert-recommendations-for-early-detection-and-laboratory-diagnosis
#16
Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen-Pfeffer, Jonathan D Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela Izzo, Helena Jahnová, Zoltan Lukacs, Sara E Mole, Ines Noher de Halac, David A Pearce, Helena Poupetova, Angela Schulz, Nicola Specchio, Winnie Xin, Nicole Miller
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2-4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27553520/analysis-of-large-scale-whole-exome-sequencing-data-to-determine-the-prevalence-of-genetically-distinct-forms-of-neuronal-ceroid-lipofuscinosis
#17
David E Sleat, Erika Gedvilaite, Yeting Zhang, Peter Lobel, Jinchuan Xing
The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, mostly recessive neurodegenerative lysosomal storage diseases. While clinically similar, they are genetically distinct and result from mutations in at least twelve different genes. Estimates of NCL incidence range from 0.6 to 14 per 100,000 live births but vary widely between populations and are influenced by whether patients are classified based upon clinical or genetic criteria. We investigated mutations in twelve NCL genes in ~61,000 individuals represented in the Exome Aggregation Consortium (ExAC) whole exome sequencing database...
November 30, 2016: Gene
https://www.readbyqxmd.com/read/27524508/exome-sequencing-in-a-consanguineous-family-clinically-diagnosed-with-early-onset-alzheimer-s-disease-identifies-a-homozygous-ctsf-mutation
#18
Jose Bras, Ruth Djaldetti, Ana Margarida Alves, Simon Mead, Lee Darwent, Alberto Lleo, Jose Luis Molinuevo, Rafael Blesa, Andrew Singleton, John Hardy, Jordi Clarimon, Rita Guerreiro
We have previously reported the whole genome genotyping analysis of 2 consanguineous siblings clinically diagnosed with early onset Alzheimer's disease (AD). In this analysis, we identified several large regions of homozygosity shared between both affected siblings, which we suggested could be candidate loci for a recessive genetic lesion underlying the early onset AD in these cases. We have now performed exome sequencing in one of these siblings and identified the potential cause of disease: the CTSF c.1243G>A:p...
October 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27508227/data-on-characterizing-the-gene-expression-patterns-of-neuronal-ceroid-lipofuscinosis-genes-cln1-cln2-cln3-cln5-and-their-association-to-interneuron-and-neurotransmission-markers-parvalbumin-and-somatostatin
#19
Helena M Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen
The article contains raw and analyzed data related to the research article "Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain" (Fabritius et al., 2014) [1]. The processed data gives an understanding of the development of the cell types that are mostly affected by defective function of CLN proteins, timing of expression of CLN1, CLN2, CLN3 and CLN5 genes in a murine model. The data shows relationship between the expression pattern of these genes during neural development...
September 2016: Data in Brief
https://www.readbyqxmd.com/read/27504025/the-paediatric-rheumatologist-and-orphan-disease-a-story-without-happy-ending
#20
Justyna Roszkiewicz, Małgorzata Biernacka-Zielińska, Elżbieta Smolewska
Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them - neuronal ceroid lipofuscinosis, the most frequent neurodegenerative disease observed in the paediatric population. We report a case of 2-year-old girl diagnosed with oligoarticular form of juvenile idiopathic arthritis treated in our Department with steroids and methotrexate and staying in the stage of disease remission...
2016: Reumatologia
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