Tohoku J. Exp. Med., 2006, 209(3)

Case Report

Niemann-Pick Disease Type C: Cataplexy and Hypocretin in Cerebrospinal Fluid

KATSUYUKI OYAMA, TSUTOMU TAKAHASHI, YUTAKA SHOJI, MIKA OYAMADA, ATSUKO NOGUCHI, HIROAKI TAMURA, GORO TAKADA and TAKASHI KANBAYASHI¹

Departments of Pediatrics and ¹Psychiatry, Akita University School of Medicine, Akita, Japan

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.

keywords —— Niemann-Pick disease type C; NPC1 gene; Nova Scotia; cataplexy; hypocretin-1

© 2006 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2006, 209, 263-267

Correspondence: Tsutomu Takahashi, Department of Pediatrics, Akita University School of Medicine, 1-1-1, Hondo, Akita 010-8543, Japan.

e-mail: tomy@med.akita-u.ac.jp