Title
Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imagingCerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
University Hospital Antwerp
Research group
Nuclear medicine
VIB DMG - Neurogenetics Group
UZA
Publication type
article
Publication
Bruxelles,
Subject
Human medicine
Source (journal)
Acta neurologica Belgica. - Bruxelles
Volume/pages
112(2012):3, p. 287-289
ISSN
0300-9009
2240-2993
ISI
000308227300011
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurometabolic disease. Clinical symptoms are caused by increased deposition of cholestanol and cholesterol in various tissues. Progressive neurological symptoms are one of the principal manifestations. We report the case of a 44-year-old man who presented with asymmetric parkinsonism. In addition, there were mild bilateral pyramidal signs and a mild polyneuropathy. Brain MRI showed bilateral lesions in the dentate nucleus of the cerebellum and in the substantia nigra. Nuclear brain imaging using I-123-FP-CIT demonstrated an asymmetric reduced presynaptic dopaminergic function of the putamen and caudate nucleus, correlating well with his lateralized bradykinetic-rigid syndrome. CTX was diagnosed based on an increased plasma level of cholestanol, typical cerebellar brain lesions and the causative genetic mutation. CTX presenting with parkinsonism is considered rare and data on the neuroimaging of the dopaminergic deficit are limited.
E-info
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308227300011&DestLinkType=RelatedRecords&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308227300011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308227300011&DestLinkType=CitingArticles&DestApp=ALL_WOS&UsrCustomerID=ef845e08c439e550330acc77c7d2d848
Handle