Niemann-Pick type C disease in a 68-year-old patient [6]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 77, Issue 8, 2006, Pages 997-998

  Trendelenburg, George ^a   Vanier, M T ^b   Maza, S ^a   Millat, G ^b   Bohner, G ^c   Munz, D L ^a   Zschenderlein, R ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b CENTRE HOSPITALIER LYON SUD   (France)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ANAMNESIS; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; FEMALE; HUMAN; LETTER; MOLECULAR GENETICS; NEUROIMAGING; NEUROLEPTIC MALIGNANT SYNDROME; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PRIORITY JOURNAL; SKIN FIBROBLAST; SPLENOMEGALY; BRAIN; FRAMESHIFT MUTATION; GENETICS; ONSET AGE; PATHOLOGY;

CARRIER PROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN;

AGE OF ONSET; AGED; BRAIN; CARRIER PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASES;

EID: 33746285256     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2005.086785     Document Type: Letter

References (5)

1. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003;64:269-81.
2. Patterson MC. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist 2003;9:301-10.
3. Klünemann HH, Ibach B, Guerlach G, et al. Neurologic, psychiatric and neuropsychologic evaluation combined with F-18-fluorodeoxy-glucose (FDG)-PET neuroimaging in adult patients with Niemann-Pick disease type C. Ann Neurol 2001;50:S61.
4. Lachmann RH, te Vruchte D, Lloyd-Evans E, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 2004;16:054-8.
5. Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr Suppl 2005;94:69-75.