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Nervenheilkunde 2016; 35(06): 419-424
DOI: 10.1055/s-0037-1616399
Übersichtsartikel
Schattauer GmbH

Morphologische und pathophysiologische Störungen im ZNS bei Morbus Wilson

Morphological and pathophysiological disturbances in CNS in case of Wilson’s disease
W. Hermann
1   Paracelsus Klinik Zwickau, Klinik für Neurologie
› Institutsangaben
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Publikationsverlauf

eingegangen am: 04. April 2016

angenommen am: 21. April 2016

Publikationsdatum:
10. Januar 2018 (online)

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Zusammenfassung

Der Morbus Wilson, eine genetisch verursachte Kupferspeichererkrankung mit autosomal-rezessivem Erbgang, ist neben einer hepatischen Symptomatik vor allem durch eine hohe Variabilität neurologischer Befunde gekennzeichnet. Kupfer wirkt dabei direkt und indirekt schädigend auf neuronale Strukturen. Mit bildgebenden Methoden (MRT, SPECT, PET) kann die zerebrale Pathoanatomie und Pathophysiologie untersucht werden. Die erhobenen morphologischen und nuklearmedizinischen Parameter des ZNS dienen neben der Verlaufskontrolle auch zur Überprüfung klinischer und genetischer Klassifikationsversuche. Wegen mangelnder Spezifität lassen sie eine Diagnosesicherung des Morbus Wilson nicht zu.

Während MRT-Läsionen bereits vor klinisch neurologischer Manifestation auftreten, belegen SPECT-Befunde prä- und postsynaptische Störungen im nirgrostriatalen System nur bei der neurologischen Kohorte. Zerebrale Glukoseumsatzstörungen im FDG-PET korrelieren ebenfalls nur mit dem Vorliegen extrapyramidalmotorischer Symptome. Alle bildgebenden Daten ließen keine Genotyp-Phänotyp-Korrelation bezüglich des Auftretens der H1069Q-Mutation erkennen.

Summary

Wilson’s disease, a genetically caused copper storage disease with an autosomal recessive trait is, besides by hepatic symptoms, particularly characterized by neurological findings of high variability. Here copper has a directly and indirectly damaging effect on neural structures. The cerebral pathoanatomy and pathophysiology can be analyzed using image-generating methods (MRI, SPECT, PET). Besides progress monitoring, the collected morphological and nuclear medical parameters of the CNS are also employed to test clinical and genetic classification attempts. Due to the lack of specificity they do not allow a correct diagnosis of Wilson’s disease.

While MRI-lesions already occur before clinical-neurological manifestations, SPECT-findings show pre- and postsynaptic disorders in the nigrostriatal system only in the neurological cohort. Cerebral glucose turnover disorders in FDG-PET also only correlate with the occurrence of extra-pyramidal motor symptoms. None of the image-generating data showed any genotype-phenotype-correlation with respect to the H1069Q-mutation.

Schlüsselwörter

Morbus Wilson - MRT - SPECT - PET

Keywords

Wilson’s disease - MRI - SPECT - PET
 

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