A rare case of Niemann Pick Disease with a novel variant in the NPC2 gene presenting with neuropsychiatric manifestations in middle age
Author:
Funder
National Institute of Mental Health and Neurosciences
Publisher
Elsevier BV
Reference10 articles.
1. Systematic review of psychiatric signs in Niemann-Pick disease type C;Bonnot;World J. Biol. Psychiatry,2019
2. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae;Brady;Proc. Natl. Acad. Sci. USA,1966
3. Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes;Coleman;Virol. J.,2012
4. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2;Klünemann;Ann. Neurol.,2002
5. Psychiatric symptoms as a harbinger of adult-onset Niemann-Pick Type C;Malone;Psychiatry Res. Case Rep.,2022
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