Diagnostik und Therapie bei Morbus Wilson

Kunath, B.; Reuner, Ulrike

doi:10.1055/s-2003-37060

Cited by 2 publications

(4 citation statements)

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“…As copper accumulation in the brain leads to dysfunction of the basal ganglia, neurological‐type patients typically present with hypo‐ and hyperkinetic extrapyramidal symptoms with Parkinsonism being very common. As striatal injury has been described in pathological examinations,1 magnetic resonance imaging (MRI) ‐based investigations,2–5 and [18F]fluoro‐2‐deoxy‐D‐glucose positron emission tomography ([ 18 F]FDG‐PET) studies,5, 6 it is thought to underlie the parkinsonian symptoms. Furthermore, PET investigations7 demonstrated loss of D2 receptors in the striatum.…”

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Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction

Mueller¹,

Reuner²,

Landis

et al. 2006

Movement Disorders

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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.

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confidence: 99%

Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction

Mueller¹,

Reuner²,

Landis

et al. 2006

Movement Disorders

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“…Dabei werdeni mW esentlichen kupferbedingteo xidative Wirkungen für die Toxizität verantwortlich gemacht. Vo ra llemd avon betroffens ind Leber, Basalganglien,A ugen, Nierenu nd Blut.D as klinische Bildist daherausgesprochenbunt (8,12,13,25,30).…”

Section: Pathophysiologieunclassified

“…Hierbei kommt es zurFreisetzung großerM engeng espeichertenK upfers aus dennekrotischenHepatozyten. Besondere Bedeutung beider Diagnosestellungh at die Leberbiopsie, wobeie ine Kupfermenge von2 50 µg/g Lebertrockengewicht alsd iagnostisch wegweisendg ilt (29).Bei einemTeilder Patienten, insbesondere beijenen mit neurologischen Symptomen, findens icho ft typischeT 2-Hyperintensitäteni mB ereich derB asalganglien (25). Alspathognomonisch gilt, wenn auch nur seltenbeobachtet, derkernspintomographische Nachweis dessogenannten "face of the giant panda"( Abb.1 ,2 ).…”

Section: Klinisches Bildunclassified

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Morbus Wilson als Differenzialdiagnose bei psychischen Störungen

Bux¹,

Rosenbohm²,

Connemann³

2007

Nervenheilkunde

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ZusammenfassungMorbus Wilson ist eine hereditäre Kupferstoffwechselstörung mit autosomal-rezessivem Erbgang. Ursache ist der Defekt einer kupfertransportierenden ATPase in den Hepatozyten, die Kupfer an Apocoeruloplasmin bindet und dadurch die biliäre Ausscheidung ermöglicht. Folge ist eine Kupferüberladung verschiedener Organe. Neben Störungen der Leberfunktion und neurologischen Störungen gehören psychiatrische Symptome zum klassischen Bild und sind nicht selten die ersten klinischen Auffälligkeiten. Wenn auch der M. Wilson eine insgesamt eher seltene Erkrankung ist, so kommt der Diagnose doch eine große Bedeutung zu, da es sich um eine bei frühzeitiger Diagnosestellung gut behandelbare Erkrankung handelt, die unbehandelt zu bleibenden Organschäden führt und letztlich letal verläuft. Vor allem bei jüngeren Patienten mit einer Erstmanifestation psychiatrischer Symptome ist ein M. Wilson differenzialdiagnostisch in Betracht zu ziehen. Für Screeningzwecke im psychiatrischen Alltag scheint die Bestimmung von Coeruloplasmin und Kupfer im Serum geeignet.

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Diagnostik und Therapie bei Morbus Wilson

Cited by 2 publications

References 20 publications

Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction

Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction

Morbus Wilson als Differenzialdiagnose bei psychischen Störungen

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