This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features wer...
J. Sipilä, T. Rauramaa, Laura Kytövuori et al.· Brain Pathology· 0 citations
Diagnostic testing and neurosurgical management involving CSF shunting in patients with idiopathic normal pressure hydrocephalus (iNPH) offers a unique, ethically sustainable opportunity to study the aging human brain. The common co-occurrence of neurodegenerative pathologies such as amyloid-β plaques and neurofibril...
Heikki E. M. Lukkarinen, A. Luikku, Antonios Dougalis et al.· Alzheimer's Research & T...· 0 citations
It is demonstrated that downregulation of PLCG2, primarily in neurons, impairs synaptic function and elevates amyloid-β levels and Tau protein phosphorylation in neurons.
Audrey Coulon, F. Rabiller, M. Takalo et al.· Nature Genetics· 0 citations
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