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Case Reports in Neurological Medicine
Volume 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.

Supplementary Material

Supplementary Video 1: Case 1 with 12 years, the patient was inpatient at our hospital and during a talk she presented the gelastic cataplexy.

Supplementary Video 2: Case 1 with 14 years, showing the supranuclear vertical gaze palsy, with impossibility of pursuit downward movement and experiencing a small dropping of the head.

Supplementary Video 3: Case 1 with 14 years, demonstrating ataxia at the beginning of therapy with miglustat.

Supplementary Video 4: Case 2 with 24 years, showing ataxia and right limbs spasticity and dystonia.

Supplementary Video 5: Case 2 with 24 years, showing supranuclear vertical gaze palsy and slow saccadic movements.

Supplementary Video 6: Case 2 with 24 years, showing swallowing difficulties with liquids.

  1. Supplementary Videos