title: Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.
abstract: Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neurological examination revealed dystonia, ataxia, vertical supranuclear-gaze palsy (VSGP), and global cognitive impairment. Case 2 showed milder, but similar symptoms, with cortical atrophy. Abdominal computed tomography showed hepatosplenomegaly in both cases. NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.
authors.affiliation: Department of Neurology, Dong-A University College of Medicine, Busan, Korea .
authors.forename: Su-Yun
authors.identifier: 0000-0003-1072-8452
authors.initials: SY
authors.lastname: Lee
authors.affiliation: Department of Neurology, Dong-A University College of Medicine, Busan, Korea .
authors.forename: Hyung Jin
authors.identifier: 0000-0002-2697-7560
authors.initials: HJ
authors.lastname: Lee
authors.affiliation: Department of Psychiatry, Dong-A University College of Medicine, Busan, Korea .
authors.forename: Seong Hwan
authors.identifier: 0000-0001-5707-5917
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Nuclear Medicine, Dong-A University College of Medicine, Busan, Korea .
authors.forename: Young Jin
authors.identifier: 0000-0001-7611-8185
authors.initials: YJ
authors.lastname: Jeong
authors.affiliation: Department of Laboratory Animal Medicine, College of Veterinary Medicine, Kyungpook National University, Daegu, Korea .
authors.forename: Hee Kyung
authors.identifier: 0000-0001-6403-008X
authors.initials: HK
authors.lastname: Jin
authors.affiliation: Department of Physiology, School of Medicine, Kyungpook National University, Daegu, Korea .
authors.forename: Jae-Sung
authors.identifier: 0000-0002-8270-0072
authors.initials: JS
authors.lastname: Bae
authors.affiliation: Department of Neurology, Dong-A University College of Medicine, Busan, Korea .
authors.forename: Sang-Myung
authors.identifier: 0000-0001-5905-2188
authors.initials: SM
authors.lastname: Cheon
authors.affiliation: Department of Neurology, Dong-A University College of Medicine, Busan, Korea .
authors.forename: Jae Woo
authors.identifier: 0000-0003-3054-6306
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000005:Abdomen / Q000000981:diagnostic imaging; D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000235:genetics; D011618:Psychotic Disorders / Q000209:etiology; D056910:Republic of Korea; D035781:Siblings; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein
keywords: Ataxia; Dystonia; Hepatosplenomegaly; Niemann-Pick Disease, Type C; Oculomotor Paralysis; Psychosis