Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid

Title

Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid

Creator

Oyama K; Takahashi T; Shoji Y; Oyamada M; Noguchi A; Tamura H; Takada G; Kanbayashi T

Publisher

The Tohoku Journal Of Experimental Medicine

Date

2006

Subject

Child; Female; Humans; infant; Preschool; infant; Newborn; Point Mutation; Carrier Proteins/genetics; Cataplexy/etiology; Intracellular Signaling Peptides and Proteins/cerebrospinal fluid/genetics; Membrane Glycoproteins/genetics; Neuropeptides/cerebrospinal fluid/genetics; Niemann-Pick Diseases/cerebrospinal fluid/genetics

Description

Niemann-Pick disease type C (NPC) is an inherited lipid storage disorder, characterized by a defect in intracellular trafficking of exogenous cholesterol that leads to the lysosomal accumulation of unesterified cholesterol. We report a Japanese patient with NPC caused by a homozygous c.2974 G > T mutation of the NPC1 gene, which predicts a glycine (GGG) to tryptophan (TGG) change at codon 992 (designated as p.G992W). This is a well-known NPC1 gene mutation that causes a unique phenotype of NPC, which has been limited to a single Acadian ancestor in Nova Scotia, Canada. Our patient characteristically started presenting with cataplexy at the age of 9 years. Recent studies have shown reduced hypocretin-1 levels in the cerebrospinal fluid (CSF) of narcoleptic patients with cataplexy. In our patient, the level of hypocretin-1 was determined as moderately low, 174 pg/ml (normal, > 200 pg/ml). To date, CSF levels of hypocretin-1 have been determined by using an identical assay method in 7 cases of NPC, including our case. All of the NPC cases with cataplexy demonstrated low levels of CSF hypocretin-1, confirming the association of reduced CSF hypocretin-1 levels with cataplexy in NPC.
2006

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

263-267

Issue

3

Volume

209

Citation

Oyama K; Takahashi T; Shoji Y; Oyamada M; Noguchi A; Tamura H; Takada G; Kanbayashi T, “Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid,” Pediatric Palliative Care Library, accessed October 15, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13278.

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