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Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.
Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Höglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK; Reisensburg Working Group for Tauopathies With Parkinsonism. Ludolph AC, et al. Eur J Neurol. 2009 Mar;16(3):297-309. doi: 10.1111/j.1468-1331.2008.02513.x. Eur J Neurol. 2009. PMID: 19364361 Free PMC article. Review.
These pathologic characteristics suggest shared pathogenetic pathways and possible molecular targets for disease-modifying therapeutic interventions. Natural history studies, for instance, in progressive supranuclear palsy, frontotemporal dementia with parkinsonism …
These pathologic characteristics suggest shared pathogenetic pathways and possible molecular targets for disease-modifying therapeutic …
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.
Kohlschütter A, Schulz A, Bartsch U, Storch S. Kohlschütter A, et al. CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. CNS Drugs. 2019. PMID: 30877620 Free PMC article. Review.
Therapeutic approaches for the treatment of other forms of neuronal ceroid lipofuscinosis include the administration of immunosuppressive agents to antagonize neuroinflammation associated with neurodegeneration, the use of various small molecules, stem cell therapy, …
Therapeutic approaches for the treatment of other forms of neuronal ceroid lipofuscinosis include the administration of immunosuppres …
mRNA Treatment Rescues Niemann-Pick Disease Type C1 in Patient Fibroblasts.
Furtado D, Cortez-Jugo C, Hung YH, Bush AI, Caruso F. Furtado D, et al. Mol Pharm. 2022 Nov 7;19(11):3987-3999. doi: 10.1021/acs.molpharmaceut.2c00463. Epub 2022 Sep 20. Mol Pharm. 2022. PMID: 36125338
Niemann-Pick disease type C1 (NP-C1) is an ultrarare monogenic disease that arises due to loss-of-function mutations in the NPC1 gene, resulting in the entrapment of unesterified cholesterol in the lysosomes of affected cells and a subsequent reduction in their capacity for chole …
Niemann-Pick disease type C1 (NP-C1) is an ultrarare monogenic disease that arises due to loss-of-function mutations in the NPC1 gene, resul …
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
NP-C Guidelines Working Group; Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. NP-C Guidelines Working Group, et al. Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14. Mol Genet Metab. 2009. PMID: 19647672
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. It is characterized clinically by a variety of progressive, dis …
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage …
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR. Xiong H, et al. Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4. Gene. 2012. PMID: 22326530
Vertical supranuclear gaze palsy, dysarthria, dysphagia, internal rotation and adduction of bilateral hands and splenomegaly occurred gradually during the disease progression. Five patients had laughter-cataplexy. MRI indicated mild brain atrophy. Sea blue cells and Nieman …
Vertical supranuclear gaze palsy, dysarthria, dysphagia, internal rotation and adduction of bilateral hands and splenomegaly occurred gradua …
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
Iwan K, Patel N, Heslegrave A, Borisova M, Lee L, Bower R, Mole SE, Mills PB, Zetterberg H, Mills K, Gissen P, Heywood WE. Iwan K, et al. F1000Res. 2021 Jul 20;10:614. doi: 10.12688/f1000research.54556.2. eCollection 2021. F1000Res. 2021. PMID: 35106137 Free PMC article.
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. ...We analysed CSF NfL in CLN2 p …
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the firs …
Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.
Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I. Szakszon K, et al. Eur J Paediatr Neurol. 2014 Jan;18(1):75-8. doi: 10.1016/j.ejpn.2013.08.002. Epub 2013 Oct 1. Eur J Paediatr Neurol. 2014. PMID: 24119781
Psychiatric manifestations may occur at any stage of the disease. These manifestations include schizophrenia, presenile dementia, depression or psychosis. In 2009, miglustat was approved for the therapy of the disease. ...Based on our clinical experience we suggest …
Psychiatric manifestations may occur at any stage of the disease. These manifestations include schizophrenia, presenile dementia, dep …