Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Assmann, B. E.
Right arrow Articles by Hoffmann, G. F.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Assmann, B. E.
Right arrow Articles by Hoffmann, G. F.
Related Collections
Right arrow Dystonia
Right arrow Parkinson's disease/Parkinsonism
Right arrow Retina
NEUROLOGY 2004;62:1872-1874
© 2004 American Academy of Neurology
Brief Communications

Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF

B. E. Assmann, MD, R. O. Robinson, FRCP, R. A.H. Surtees, PhD, C. Bräutigam, PhD, S. J.R. Heales, PhD, R. A. Wevers, PhD, J. Zschocke, PhD, K. Hyland, PhD, R. Sharma, PhD and G. F. Hoffmann, MD

From the Department of General Pediatrics (Dr. Assmann), University Children’s Hospital, Duesseldorf, and University Children’s Hospital (Drs. Assmann, Bräutigam, Zschocke, and Hoffmann), Heidelberg, Germany; Newcomen Centre (Dr. Robinson), Guy’s Hospital, Neurosciences Unit (Dr. Surtees), Institute of Child Health, University College London, and Neurometabolic Unit (Dr. Heales), National Hospital, London, UK; 319 Laboratory of Pediatrics and Neurology (Dr. Wevers), Institute of Neurology, University Hospital Nijmegen, the Netherlands; and Institute of Metabolic Disease (Drs. Hyland and Sharma), Dallas, TX.

Address correspondence and reprint requests to Dr. B.E. Assmann, Department of General Pediatrics, University Children’s Hospital, Moorenstrasse 5, D-40225 Duesseldorf, Germany; e-mail: Birgit.Assmann{at}uni-duesseldorf.de

Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.

Received October 29, 2003. Accepted in final form December 16, 2003.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2004 by AAN Enterprises, Inc.