Literature DB >> 27629553

Neuronal ceroid lipofuscinoses.

Dragos A Nita1, Sara E Mole2, Berge A Minassian1.   

Abstract

The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.

Entities:  

Keywords:  Batten; Haltia-Santavuori; Janský-Bielschowsky; Spielmeyer; progressive myoclonus epilepsies

Mesh：

Year:  2016        PMID： 27629553     DOI： 10.1684/epd.2016.0844

Source DB:  PubMed          Journal:  Epileptic Disord        ISSN： 1294-9361            Impact factor:   1.819


  38 in total

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Authors:  Angela Sun
Journal:  Ann Transl Med       Date:  2018-12

2.  Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy.

Authors:  Sudipta Chakrabarti; Sujyoti Chandra; Avik Roy; Sridevi Dasarathi; Madhuchhanda Kundu; Kalipada Pahan
Journal:  Neurobiol Dis       Date:  2019-03-28       Impact factor: 5.996

Review 3.  The history of progressive myoclonus epilepsies.

Authors:  Pierre Genton; Pasquale Striano; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

Review 4.  The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Authors:  Alessandro Orsini; Angelo Valetto; Veronica Bertini; Mariagrazia Esposito; Niccolò Carli; Berge A Minassian; Alice Bonuccelli; Diego Peroni; Roberto Michelucci; Pasquale Striano
Journal:  Seizure       Date:  2019-08-23       Impact factor: 3.184

Review 5.  Drug Treatment of Progressive Myoclonic Epilepsy.

Authors:  Gregory L Holmes
Journal:  Paediatr Drugs       Date:  2020-04       Impact factor: 3.022

Review 6.  Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis.

Authors:  Yasir H Qureshi; Penelope Baez; Christiane Reitz
Journal:  Mol Cell Biol       Date:  2020-09-14       Impact factor: 4.272

7.  Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.

Authors:  A Biswas; P Krishnan; A Amirabadi; S Blaser; S Mercimek-Andrews; M Shroff
Journal:  AJNR Am J Neuroradiol       Date:  2020-08-27       Impact factor: 3.825

Review 8.  Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Authors:  Nicola Specchio; Alessandro Ferretti; Marina Trivisano; Nicola Pietrafusa; Chiara Pepi; Costanza Calabrese; Susanna Livadiotti; Alessandra Simonetti; Paolo Rossi; Paolo Curatolo; Federico Vigevano
Journal:  Drugs       Date:  2021-01       Impact factor: 9.546

9.  Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.

Authors:  Ali Hosseini Bereshneh; Masoud Garshasbi
Journal:  J Med Case Rep       Date:  2018-09-25

Review 10.  The lysosomal function of progranulin, a guardian against neurodegeneration.

Authors:  Daniel H Paushter; Huan Du; Tuancheng Feng; Fenghua Hu
Journal:  Acta Neuropathol       Date:  2018-05-09       Impact factor: 17.088
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