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

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

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

The Tohoku Journal Of Experimental Medicine

2006

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

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

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