Seltene Parkinson-Syndrome

Zusammenfassung

Die verschiedenen Parkinson-Syndrome (PS) klinisch einzelnen Krankheitsentitäten zuzuordnen, gilt als schwierig. Es sind viele seltene Parkinson-Syndrome von dem häufigen sporadischen idiopathischen Parkinson-Syndrom (IPS) zu differenzieren. Zum Teil neu aufgelegte Kriterien für das IPS und die atypischen Parkinson-Syndrome wie Demenz vom Lewy-Body-Typ (DLB), Multisystematrophie (MSA), progressiver supranukleärer Blickparese (PSP) und kortikobasales Syndrom (CBS) sollten die diagnostische Einordnung verbessern. Patienten mit vom sporadischen IPS kaum unterscheidbaren monogenetischem PS, z. B. mit LRRK2-Mutationen oder mit einem Risikogen, z. B. Mutationen im GBAGen, können relativ einfach genetisch diagnostiziert werden. Bei jungen PS-Patienten müssen komplexe Krankheiten wie z. B. das häufige Mikrodeletionssyndrom 22q11.2 (Di-George-Syndrom), Morbus Wilson und “Morbus Fahr” sowie die Gruppe der Neurodegenerationen mit Eisenablagerung im Gehirn (NBIAs) berücksichtigt werden.

Summary

The different parkinsonian conditions can be challenging to separate clinically. There are many parkinsonian syndromes which have to be distinguished from Parkinson’s disease (PD). New criteria for the clinical diagnosis of PD and atypical parkinsonism such as Dementia of Lewy body-type (DLB), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), and corticobasal degeneration (CBD) should improve the diagnosis. Patients with monogenic causes of PD such as carries of LRRK2 mutations or with a genetic risk such as GBA mutations can easily be diagnosed as such with the advances in neurogenetics. Complex diseases such as the common microdeletion syndrome 22q11.2 (DiGeorge-Syndrom, Wilson or Fahr disease as well as the neurodegenerations with brain iron accumulation have to be looked for in young patients with parkinsonism.

Schlüsselwörter

Atypische Parkinson-Syndrome - Genetik - Parkinson bei seltenen Krankheiten

Keywords

Atypical Parkinsonism - Parkinson disease - parkinsonism in genetic and complex diseases

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