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Case Reports in Neurological Medicine
Volume 2014 (2014), Article ID 785890, 7 pages
Case Report

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

1Department of Medical Genetics, Centro Médico Nacional “20 de Noviembre”, ISSSTE, San Lorenzo No. 502E, Colonia del Valle Sur, Del. Benito Juárez, 03100 México, DF, Mexico
2Department of Genetics-Research Unit, Instituto de Oftalmología “Conde de Valenciana”, Chimalpopoca No. 14, Colonia Obrera, Del. Cuauhtémoc, 06800 México, DF, Mexico
3Department of Biochemistry, Facultad de Medicina, Universidad Nacional Autónoma de México, Avenida Universidad 3000, Ciudad Universitaria, Del. Coyoacán, 04510 México, DF, Mexico
4Department of Adult Neurology, Centro Médico Nacional “20 de Noviembre”, ISSSTE, Félix Cuevas No. 540, Colonia del Valle Sur, Del. Benito Juárez, 03229 México, DF, Mexico

Received 1 March 2014; Revised 6 July 2014; Accepted 11 September 2014; Published 2 October 2014

Academic Editor: Massimiliano Filosto

Copyright © 2014 Raul E. Piña-Aguilar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, imaging of central nervous and gastrointestinal system, and EEG were performed. Genetic studies include sequencing and deletion/duplication analysis of NPC1 and NPC2 genes. All patients presented with cognitive impairment, ataxia, and supranuclear vertical gaze palsy; one case had gelastic cataplexy. Also they developed epilepsy and cortical atrophy and two patients had thinning of corpus callosum. The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348* and p.V1165M in case 3. Mexican patients with juvenile NPC presented with a variable clinical phenotype and compound heterozygosity. This suggests a relative high frequency of mutation carriers as it is reported for European population. Consequently, clinicians should consider NPC as a diagnosis possibility in any adolescent or young adult patient with juvenile dementia and/or ataxia, even in absence of gelastic cataplexy and supranuclear vertical gaze palsy.