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neuronal ceroid lipofuscinosis

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https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#1
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29744576/the-lysosomal-function-of-progranulin-a-guardian-against-neurodegeneration
#2
REVIEW
Daniel H Paushter, Huan Du, Tuancheng Feng, Fenghua Hu
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor implicated in a multitude of processes ranging from regulation of inflammation to wound healing and tumorigenesis. The clinical importance of PGRN became especially evident in 2006, when heterozygous mutations in the GRN gene, resulting in haploinsufficiency, were found to be one of the main causes of frontotemporal lobar degeneration (FTLD). FTLD is a clinically heterogenous disease that results in the progressive atrophy of the frontal and temporal lobes of the brain...
May 9, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29721970/further-characterization-of-the-predominant-inner-retinal-degeneration-of-aging-cln3-%C3%AE-ex7-8-knock-in-mice
#3
Cornelia Volz, Myriam Mirza, Thomas Langmann, Herbert Jägle
Neuronal ceroid lipofuscinosis (NCL) is the most common group of neurogenetic storage diseases typically beginning in childhood. The juvenile form (JNCL), also known as Batten disease, is the most common form. Vision-related problems are often an early sign, appearing prior to motor and mental deficits. We have previously investigated disease progression with age in the Cln3 Δex7/8 KI mouse model for JNCL and showed a decline of visual acuity and a predominant decline of the inner retinal function in mice, similar to human disease...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29704274/saccadic-oscillations-in-4-dogs-and-1-cat
#4
Edward J Ives, Edward MacKillop, Natasha J Olby
Disorders affecting the control of saccadic eye movements result in involuntary saccadic oscillations and are widely reported in human medicine. Information regarding the occurrence and potential importance of saccadic oscillations in veterinary medicine is currently limited. The clinical histories of three dogs and one cat displaying involuntary eye movements consistent with opsoclonus are presented, with final diagnoses including idiopathic generalized tremor syndrome and neuronal ceroid lipofuscinosis (NCL)...
April 27, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29688815/study-of-intraventricular-cerliponase-alfa-for-cln2-disease
#5
Angela Schulz, Temitayo Ajayi, Nicola Specchio, Emily de Los Reyes, Paul Gissen, Douglas Ballon, Jonathan P Dyke, Heather Cahan, Peter Slasor, David Jacoby, Alfried Kohlschütter
Background Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children. Methods In a multicenter, open-label study, we evaluated the effect of intraventricular infusion of cerliponase alfa every 2 weeks in children with CLN2 disease who were between the ages of 3 and 16 years. Treatment was initiated at a dose of 30 mg, 100 mg, or 300 mg; all the patients then received the 300-mg dose for at least 96 weeks...
April 24, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29660499/modulating-membrane-fluidity-corrects-batten-disease-phenotypes-in-vitro-and-in-vivo
#6
Mark L Schultz, Luis Tecedor, Elena Lysenko, Shyam Ramachandran, Colleen S Stein, Beverly L Davidson
The neuronal ceroid lipofuscinoses are a class of inherited neurodegenerative diseases characterized by the accumulation of autofluorescent storage material. The most common neuronal ceroid lipofuscinosis has juvenile onset with rapid onset blindness and progressive degeneration of cognitive processes. The juvenile form is caused by mutations in the CLN3 gene, which encodes the protein CLN3. While mouse models of Cln3 deficiency show mild disease phenotypes, it is apparent from patient tissue- and cell-based studies that its loss impacts many cellular processes...
April 13, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29599076/characteristics-of-ppt1-and-tpp1-enzymes-in-neuronal-ceroid-lipofuscinosis-ncl-1-and-2-by-dried-blood-spots-dbs-and-leukocytes-and-their-application-to-newborn-screening
#7
Rina Itagaki, Masahiro Endo, Hiroko Yanagisawa, Mohammad Arif Hossain, Keiko Akiyama, Keiko Yaginuma, Takashi Miyajima, Chen Wu, Takeo Iwamoto, Junko Igarashi, Yu Kobayashi, Jun Tohyama, Kazuhiro Iwama, Naomichi Matsumoto, Haruo Shintaku, Yoshikatsu Eto
We first characterized PPT1 and TPP1 enzymes in dried blood spots (DBS), plasma/serum, and leukocytes/lymphocytes using neuronal ceroid lipofuscinosis (NCL) 1 and 2 patients and control subjects. PPT1 enzyme had only one acid form in control DBS, plasma/serum, and leukocytes/lymphocytes and showed deficient activities in these samples from NCL 1 patients. Conversely, TPP1 enzymes in control DBS and leukocytes/lymphocytes consisted of two forms, an acidic form and a neutral form, whereas serum TPP1 enzyme had only a neutral form...
March 19, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29531776/mri-findings-of-neuronal-ceroid-lipofuscinosis-in-a-cat
#8
Crystal White, Jeremy Mortier, Ranieri Verin, Thomas Maddox, Rita Goncalves, Daniel Sanchez-Masian
Case summary: A 2-year-old male domestic shorthair cat presented to the University of Liverpool Small Animal Teaching Hospital with a 2 week history of altered mentation, blindness and focal epileptic seizures. MRI examination revealed generalised cerebral and cerebellar atrophy, diffuse T2-weighted hyperintensity of the white matter and meningeal thickening. Neuronal ceroid lipofuscinosis was confirmed on post-mortem examination. Relevance and novel information: This is the first report of the MRI findings of neuronal ceroid lipofuscinosis in a cat...
January 2018: JFMS Open Reports
https://www.readbyqxmd.com/read/29470438/altered-expression-of-ganglioside-metabolizing-enzymes-results-in-gm3-ganglioside-accumulation-in-cerebellar-cells-of-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis
#9
Aleksandra Somogyi, Anton Petcherski, Benedikt Beckert, Mylene Huebecker, David A Priestman, Antje Banning, Susan L Cotman, Frances M Platt, Mika O Ruonala, Ritva Tikkanen
Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8 of this gene, which results in a truncated CLN3 protein carrying an aberrant C-terminus. A genetically accurate mouse model ( Cln3 Δex7/8 mice) for this deletion has been generated. Using cerebellar precursor cell lines generated from wildtype and Cln3 Δex7/8 mice, we have here analyzed the consequences of the CLN3 deletion on levels of cellular gangliosides, particularly GM3, GM2, GM1a and GD1a...
February 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29446145/neuronal-ceroid-lipofuscinosis-in-salukis-is-caused-by-a-single-base-pair-insertion-in-cln8
#10
F Lingaas, O-A Guttersrud, E Arnet, A Espenes
Neuronal ceroid lipofuscinoses (NCLs) are heterogenic inherited lysosomal storage diseases that have been described in a number of species including humans, sheep, cattle, cats and a number of different dog breeds, including Salukis. Here we present a novel genetic variant associated with the disease in this particular breed of dog. In a clinical case, a Saluki developed progressive neurological signs, including disorientation, anxiety, difficulties in eating, seizures and loss of vision, and for welfare reasons, was euthanized at 22 months of age...
February 2018: Animal Genetics
https://www.readbyqxmd.com/read/29422019/identification-of-two-novel-null-variants-in-cln8-by-targeted-next-generation-sequencing-first-report-of-a-chinese-patient-with-neuronal-ceroid-lipofuscinosis-due-to-cln8-variants
#11
Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen
BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in 13 candidate genes have been identified in the affected patients. Most of the variants were almost exclusively reported in Western patients, and very little clinical and genetic information was available for Chinese patients...
February 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29408933/inducible-transgenic-expression-of-tripeptidyl-peptidase-1-in-a-mouse-model-of-late-infantile-neuronal-ceroid-lipofuscinosis
#12
Yuliya Nemtsova, Jennifer A Wiseman, Mukarram El-Banna, Peter Lobel, David E Sleat
Late-infantile neuronal ceroid lipofuscinosis is a fatal neurodegenerative disease of children caused by mutations resulting in loss of activity of the lysosomal protease, tripeptidyl peptidase 1 (TPP1). While Tpp1-targeted mouse models of LINCL exist, the goal of this study was to create a transgenic mouse with inducible TPP1 to benchmark treatment approaches, evaluate efficacy of treatment at different stages of disease, and to provide insights into the pathobiology of disease. A construct containing a loxP-flanked stop cassette inserted between the chicken-actin promoter and a sequence encoding murine TPP1 (TgLSL-TPP1) was integrated into the ROSA26 locus in mice by homologous recombination...
2018: PloS One
https://www.readbyqxmd.com/read/29407413/exacerbation-of-sensorimotor-dysfunction-in-mice-deficient-in-atp13a2-and-overexpressing-human-wildtype-alpha-synuclein
#13
Emily R Dirr, Osunde R Ekhator, Rachel Blackwood, John G Holden, Eliezer Masliah, Patrick J Schultheis, Sheila M Fleming
Loss of function mutations in the gene ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis, the former designated as an inherited form of Parkinson's disease (PD). The function of ATP13A2 is unclear but in vitro studies indicate it is a lysosomal protein and may interact with the presynaptic protein alpha-synuclein (aSyn) and certain heavy metals. Accumulation of aSyn is a major component of lewy bodies, the pathological hallmark of PD. Atp13a2-deficient (13a2) mice develop age-dependent sensorimotor deficits, and accumulation of insoluble aSyn in the brain...
May 2, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29378861/progranulin-gene-therapy-improves-lysosomal-dysfunction-and-microglial-pathology-associated-with-frontotemporal-dementia-and-neuronal-ceroid-lipofuscinosis
#14
Andrew E Arrant, Vincent C Onyilo, Daniel E Unger, Erik D Roberson
Loss-of-function mutations in progranulin, a lysosomal glycoprotein, cause neurodegenerative disease. Progranulin haploinsufficiency causes frontotemporal dementia (FTD) and complete progranulin deficiency causes CLN11 neuronal ceroid lipofuscinosis (NCL). Progranulin replacement is a rational therapeutic strategy for these disorders, but there are critical unresolved mechanistic questions about a progranulin gene therapy approach, including its potential to reverse existing pathology. Here, we address these issues using an AAV vector (AAV- Grn ) to deliver progranulin in Grn -/- mice (both male and female), which model aspects of NCL and FTD pathology, developing lysosomal dysfunction, lipofuscinosis, and microgliosis...
February 28, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29284168/congenital-neuronal-ceroid-lipofuscinosis-with-a-novel-ctsd-gene-mutation-a-rare-cause-of-neonatal-onset-neurodegenerative-disorder
#15
K Varvagiannis, S Hanquinet, M H Billieux, R De Luca, P Rimensberger, M Lidgren, M Guipponi, P Makrythanasis, J L Blouin, S E Antonarakis, R Steinfeld, I Kern, A Poretti, J Fluss, S Fokstuen
Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the CTSD gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth...
April 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29229934/bis-monoacylglycero-phosphate-lipids-in-the-retinal-pigment-epithelium-implicate-lysosomal-endosomal-dysfunction-in-a-model-of-stargardt-disease-and-human-retinas
#16
David M G Anderson, Zsolt Ablonczy, Yiannis Koutalos, Anne M Hanneken, Jeffrey M Spraggins, M Wade Calcutt, Rosalie K Crouch, Richard M Caprioli, Kevin L Schey
Stargardt disease is a juvenile onset retinal degeneration, associated with elevated levels of lipofuscin and its bis-retinoid components, such as N-retinylidene-N-retinylethanolamine (A2E). However, the pathogenesis of Stargardt is still poorly understood and targeted treatments are not available. Utilizing high spatial and high mass resolution matrix assisted laser desorption ionization (MALDI) imaging mass spectrometry (IMS), we determined alterations of lipid profiles specifically localized to the retinal pigment epithelium (RPE) in Abca4-/- Stargardt model mice compared to their relevant background strain...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29182766/neuronal-ceroid-lipofuscinosis-with-severe-biventricular-impairment-a-rare-genetic-disorder-with-associated-myopathy
#17
Mohammed Y Khanji, Reni Rusinova, Masooma Shaukat, Neha Sekhri
No abstract text is available yet for this article.
January 1, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29149899/selective-depletion-of-microglial-progranulin-in-mice-is-not-sufficient-to-cause-neuronal-ceroid-lipofuscinosis-or-neuroinflammation
#18
Terri L Petkau, Natalia Kosior, Kathleen de Asis, Colúm Connolly, Blair R Leavitt
BACKGROUND: Progranulin deficiency due to heterozygous null mutations in the GRN gene are a common cause of familial frontotemporal lobar degeneration (FTLD), while homozygous loss-of-function GRN mutations are thought to be a rare cause of neuronal ceroid lipofuscinosis (NCL). Aged progranulin-knockout (Grn-null) mice display highly exaggerated lipofuscinosis, microgliosis, and astrogliosis, as well as mild cell loss in specific brain regions. In the brain, progranulin is predominantly expressed in neurons and microglia, and previously, we demonstrated that neuronal-specific depletion of progranulin does not recapitulate the neuropathological phenotype of Grn-null mice...
November 17, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29144225/prevalence-of-genetic-disorders-and-glut1-deficiency-in-a-ketogenic-diet-clinic
#19
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel, Maria Zak, Elizabeth J Donner, Jeff Kobayashi, Gajja S Salomons, Saadet Mercimek-Andrews
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29135436/defective-synaptic-transmission-causes-disease-signs-in-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis
#20
Benedikt Grünewald, Maren D Lange, Christian Werner, Aet O'Leary, Andreas Weishaupt, Sandy Popp, David A Pearce, Heinz Wiendl, Andreas Reif, Hans C Pape, Klaus V Toyka, Claudia Sommer, Christian Geis
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. The consequences of CLN3 mutation on the progression of the disease, on neuronal transmission, and on central nervous network dysfunction are poorly understood. We used Cln3 knockout ( Cln3Δex1-6 ) mice and found increased anxiety-related behavior and impaired aversive learning as well as markedly affected motor function including disordered coordination...
November 14, 2017: ELife
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