Reference : Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease.
Schweitzer, Katherine J. [> >]
Brussel, Theresa [> >]
Leitner, Petra [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Bauer, Peter [> >]
Woitalla, Dirk [> >]
Tomiuk, Jurgen [> >]
Gasser, Thomas [> >]
Berg, Daniela [> >]
Journal of neurology
Yes (verified by ORBilu)
[en] Aged ; Female ; Humans ; Male ; Mutation ; Parkinson Disease/classification/genetics/pathology/ultrasonography ; Protein Kinases/genetics ; Protein-Serine-Threonine Kinases/genetics ; Substantia Nigra/pathology/ultrasonography ; Ubiquitin-Protein Ligases/genetics ; Ultrasonography, Doppler, Transcranial/methods ; alpha-Synuclein/genetics
[en] Hyperechogenicity of the substantia nigra (SN) has been found to be a typical sign in idiopathic Parkinson's disease (PD), prevalent in more than 90% of affected individuals. To see whether SN hyperechogenicity is also characteristic for monogenetically caused PD, we investigated PD patients with alpha-synuclein, LRRK2, parkin, PINK1 and DJ-1 mutations by transcranial sonography (TCS). In all these patients the area of SN echogenicity was significantly larger than in healthy controls, but smaller, than in idiopathic PD. As SN hyperechogenicity could be related to an increased iron content of the SN, these findings suggest that iron may play a less significant role in the pathogenesis of monogenetically caused compared to idiopathic PD.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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