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Synucleinopathies
Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Molekylär och morfologisk patologi.
Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.
2015 (engelsk)Inngår i: Neuropathology of neurodegenerative diseases: A practical guide / [ed] Gabor G Kovacs, Cambridge University Press, 2015, s. 149-175Kapittel i bok, del av antologi (Fagfellevurdert)
Abstract [en]

Definition, structure and biochemical background Similar to other “proteinopathies,” the process that links α-synuclein (αS) protein to disease pathogenesis originated from the discovery that a single point mutation in the αS gene (i.e. SNCA) can cause autosomal-dominant Parkinson’s disease (PD) [1]. This was followed by the breakthrough finding that the actual transcribed protein was a major fibrillar component of pathological hallmarks known as Lewy bodies (LBs), Lewy neurites (LNs) and glial cytoplasmic inclusions characterizing a heterogeneous group of diseases, now collectively referred to as “synucleinopathies,” i.e. PD, PD with dementia (PDD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [2, 3]. Currently, there are five missense mutations (pA53T, p.A30P, p.E46K, p.H50Q and p.G51D) [1, 4–8] and multiplication mutations (SNCA duplication and triplication) [9–11] that are genetically linked to clinical parkinsonism (Table 9.1). This genetic and pathological linkage establishes αS as an important player in the development of these disorders.

sted, utgiver, år, opplag, sider
Cambridge University Press, 2015. s. 149-175
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URN: urn:nbn:se:uu:diva-293560DOI: 10.1017/CBO9781107588660.009Scopus ID: 2-s2.0-84955105996ISBN: 9781107588660 (tryckt)ISBN: 9781107674202 (tryckt)OAI: oai:DiVA.org:uu-293560DiVA, id: diva2:927973
Tilgjengelig fra: 2016-05-13 Laget: 2016-05-13 Sist oppdatert: 2016-12-09bibliografisk kontrollert

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