Teaching Video NeuroImages: Gelastic cataplexy as the first neurologic manifestation ofNiemann-Pick disease type C

Neurology

Volumn 79, Issue 22, 2012, Pages

  Pedroso, José Luiz ^a   Fusão, Eduardo Ferracioli ^a   Ladeia Frota, Carol ^a   Arita, Juliana Harumi ^a   Barsottini, Orlando G ^a   Masruha, Marcelo Rodrigues ^a   Vilanova, Luiz Celso Pereira ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; GLYCOSPHINGOLIPID;

ATAXIA; CATAPLEXY; COGNITIVE DEFECT; CONSCIOUSNESS DISORDER; DEMENTIA; ELECTROENCEPHALOGRAM; GAZE PARALYSIS; GELASTIC CATAPLEXY; GENE MUTATION; HETEROZYGOSITY; HUMAN; MUSCLE TONE; NEUROIMAGING; NIEMANN PICK DISEASE; NOTE; PRIORITY JOURNAL; TEACHING; VIDEORECORDER;

EID: 84871321518     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827597bf     Document Type: Article

References (2)

1. Yanjanin NM, Vélez JI, Gropman A, et al. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet 2010;153B: 132-140.
2. Smit LS, Lammers GJ, Catsman-Berrevoets CE. Cataplexy leading to the diagnosis of Niemann-Pick disease type C. Pediatr Neurol 2006;35:82-84.