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The Cerebellar Ataxias and Hereditary Spastic Paraplegias
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Niemann–Pick disease type C (juvenile dystonic lipidosis) is characterized by ataxia, dystonia, loss of vertical eye movement (the key clinical clue) and cognitive impairment (dementia or psychosis); cataplexy can be prominent, along with dysarthria and dysphagia. Hepatosplenomegaly is not characteristic in contrast to types A and B due to sphingomyelinase deficiency. A multiple sclerosis-like presentation (on the MRI scan) with dementia has been described. Abnormal ‘sea-blue histiocytes’ may be seen in bone marrow biopsies, but filipin staining of cultured skin fibroblasts is more reliable. Various mutations of the NPC1 gene on chromosome 18q have been associated with this condition.
Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
Published in Expert Opinion on Pharmacotherapy, 2023
Tatiana Bremova-Ertl, Susanne Schneider
Niemann-Pick disease type C (NPC) is an autosomal recessive inherited neurovisceral lysosomal storage disease (LSD) caused by mutations in the NPC1 or NPC2 gene. NPC is characterized by impaired intracellular transport of endocytosed unesterified cholesterol, sphingomyelin, glycosphingolipids and sphingosine with their sequestration in lysosomes and late endosomes [1,2]. The accumulated cholesterol undergoes non-enzymatic oxidation, leading to a formation of oxysterols, including cholestane-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC) [3,4]. They are used as blood-based biomarkers of NPC, together with certain plasma bile acids [5] (e.g. 3β,5α,6β-trihydroxycholanic acid) and certain lysosphingolipids [6] (e.g.lyso-SM-509), supplanting filipin staining as first-line diagnostics.
Glycogen synthase kinase 3 (GSK-3) inhibitors: a patent update (2016–2019)
Published in Expert Opinion on Therapeutic Patents, 2020
Carlos Roca, Nuria E. Campillo
Thanks to the capacity of the GSK-3 inhibitors to improve hematopoiesis and neural stem cell self-renewal and differentiation capability, Wuxi Hanquiang Pharmaceutical Tech Co LTD has claimed the use of GSK3 inhibitors in preparing a drug to treat Niemann-Pick disease type C (NPC) [57]. NPC disease is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. NPC is a rare genetic disease whose clinical spectrum ranges from a fatal antenatal disorder to an adult-onset chronic neurodegenerative disease [58]. Wuxi Hanquiang Pharmaceutical Tech Co LTD identified an abnormal increase of GSK3 activity associated with NPC. They showed that GSK3 inhibitors have a positive effect in treating Niemann-Pick disease type C.
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
Published in The World Journal of Biological Psychiatry, 2019
Olivier Bonnot, Clarissa S. Gama, Eugen Mengel, Mercè Pineda, Marie T. Vanier, Louise Watson, Marie Watissée, Barbara Schwierin, Marc C. Patterson
Niemann-Pick disease type C (NP-C) is a rare, pan-ethnic metabolic disease caused by autosomal recessive inheritance of mutations in the NPC1 gene or the NPC2 gene (Carstea et al. 1997; Naureckiene et al. 2000), and has been estimated to affect 1 in 89,000 pregnancies (Wassif et al. 2016). NP-C is characterised by progressive neurodegeneration and early mortality (Wraith et al. 2009; Vanier 2010; Walterfang et al. 2012; Imrie et al. 2015). It is one of a number of inborn errors of metabolism that are associated with psychiatric symptoms, and which should be considered by clinical psychiatrists as possible causes of organic psychiatric disease (Klünemann et al. 2012; Bonnot et al. 2014; Nia 2014).