Niemann-pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

Neurology

Volumn 80, Issue 12, 2013, Pages 1169-1170

  Schicks, Julia ^a,b   Vom Hagen, Jennifer Müller ^a,b   Bauer, Peter ^b   Beck Wödl, Stefanie ^b   Biskup, Saskia ^a,b,c   Krägeloh Mann, Ingeborg ^b   Schöls, Ludger ^a,b   Synofzik, Matthis ^a,b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c CEGAT GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; FRAMESHIFT MUTATION; GAZE PARALYSIS; GENE DELETION; GENE SEQUENCE; HUMAN; NIEMANN PICK DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PYRAMIDAL TRACT; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS;

ADULT; ATAXIA; COGNITION DISORDERS; COHORT STUDIES; FEMALE; HUMANS; MALE; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE C; OCULAR MOTILITY DISORDERS;

EID: 84876242248     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31828869f9     Document Type: Article

References (4)

1. Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98:152-165.
2. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765-772.
3. Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78:1560-1567.
4. Folstein MF, Folstein SE, McHugh PR "Mini-mental state": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.