Niemann Pick type C (NP-C) is an autosomal recessive neurovisceral lysosomal storage disorder caused by NPC1 and NPC2 gene mutations. We screened for NP-C 24 patients with Progressive Supranuclear Palsy and 10 with Multiple System Atrophy cerebellar type (MSA-C). Among PSP patients, no NPC1 or NPC2 gene variants were detected. One patient with MSA-C (10%) resulted to carry a pathogenic missense NPC1 gene mutation (p.C184Y) in heterozygous state. NPC1 genes variants might represent a risk or susceptibility factor in the development of α-synucleinopathies such as MSA. The common pattern of lysosomal dysfunction might explain the pathophysiological link between these disorders.
Screening for Niemann-Pick type C disease in neurodegenerative diseases / Boenzi, S.; Dardis, A.; Russo, P.; Bellofatto, M.; Imbriglio, T.; Fico, T.; De Michele, G.; De Rosa, A.. - In: JOURNAL OF CLINICAL NEUROSCIENCE. - ISSN 0967-5868. - 68:(2019), pp. 266-267. [10.1016/j.jocn.2019.06.025]
Screening for Niemann-Pick type C disease in neurodegenerative diseases
Boenzi S.;Russo P.;Bellofatto M.;Imbriglio T.;Fico T.;De Michele G.;De Rosa A.
2019
Abstract
Niemann Pick type C (NP-C) is an autosomal recessive neurovisceral lysosomal storage disorder caused by NPC1 and NPC2 gene mutations. We screened for NP-C 24 patients with Progressive Supranuclear Palsy and 10 with Multiple System Atrophy cerebellar type (MSA-C). Among PSP patients, no NPC1 or NPC2 gene variants were detected. One patient with MSA-C (10%) resulted to carry a pathogenic missense NPC1 gene mutation (p.C184Y) in heterozygous state. NPC1 genes variants might represent a risk or susceptibility factor in the development of α-synucleinopathies such as MSA. The common pattern of lysosomal dysfunction might explain the pathophysiological link between these disorders.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
