Document Detail

Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction.
MedLine Citation:
PMID:  16763975     Owner:  NLM     Status:  MEDLINE    
Wilson's disease is a rare autosomal recessive disorder characterized by the accumulation of copper, mainly in the liver and the brain. As copper accumulation in the brain leads to disturbances in basal ganglia function, neurological-type patients typically present with hypo- and hyperkinetic extrapyramidal symptoms, with Parkinsonism being very common. Although there are numerous reports on olfactory deficits in primary neurodegenerative disorders, olfactory function has not been investigated in metabolic disorders presenting with extrapyramidal features. Twenty-four patients with Wilson's disease participated in the investigation. All patients were treated pharmacologically. They comprised patients with liver disease alone (including mild enzyme elevation in asymptomatic individuals; n = 11) and/or neurological symptoms (n = 13) at the time of testing. Twenty-one patients underwent both [18F]fluoro-2-deoxy-D-glucose positron emission tomography ([18F]FDG-PET) and magnetic resonance imaging (MRI). The severity of extrapyramidal symptoms was judged using a clinical score system ranging from 0 (no symptoms) to 3 (severe symptoms). In all patients, psychophysical testing was performed using the Sniffin' Sticks, which involved tests for odor threshold, discrimination, and identification. Results from the present study revealed that Wilson's disease patients with neurological symptoms show a significant olfactory dysfunction compared to hepatic-type patients. Individuals who are more severely neurologically affected also present with a more pronounced olfactory deficit. Of interest, there was no significant effect of long-term treatment with penicillamine on olfactory function. Olfactory function did not correlate significantly with the presence of MRI visible lesions in the basal ganglia or with any regional glucose metabolism as measured by [18]F-FDG-PET. In conclusion, these findings indicate that the underlying pathological alterations with degeneration in the basal ganglia and neuronal loss in association with a marked increase of the copper content in this brain region play a role in the olfactory deficit.
Antje Mueller; Ulrike Reuner; Basile Landis; Hagen Kitzler; Heinz Reichmann; Thomas Hummel
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  21     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-10-18     Completed Date:  2007-02-02     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1311-6     Citation Subset:  IM    
Smell & Taste Clinic, Department of Otorhinolaryngology, University of Dresden Medical School, Dresden, Germany.
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MeSH Terms
Basal Ganglia / physiopathology
Basal Ganglia Diseases / diagnosis*,  genetics,  physiopathology
Blood Glucose / metabolism
Chromosome Aberrations
Copper / metabolism
Extrapyramidal Tracts / physiopathology
Fluorodeoxyglucose F18 / diagnostic use
Genes, Recessive
Hepatolenticular Degeneration / diagnosis*,  genetics,  physiopathology
Magnetic Resonance Imaging*
Middle Aged
Neurodegenerative Diseases / diagnosis,  genetics,  physiopathology
Olfaction Disorders / diagnosis*,  genetics,  physiopathology
Olfactory Pathways / physiopathology
Parkinsonian Disorders / diagnosis*,  genetics,  physiopathology
Positron-Emission Tomography*
Sensory Thresholds / physiology
Statistics as Topic
Reg. No./Substance:
0/Blood Glucose; 63503-12-8/Fluorodeoxyglucose F18; 7440-50-8/Copper

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