Autosomal dominantly inherited Parkinson's disease: first investigation of the brain of a patient with the A30P mutation in the alpha-synuclein gene and initial insights into the…
R Krüger, K Seidel, L Schöls, K Del Tredici, K Gierga, O Rieß, S Frank, W Scherzed, A Rami, C Müller, I Bechmann, T Deller, U Rüb · Aktuelle Neurologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
To date, three point mutations in the alpha-synuclein (SNCA) gene (Ala30Pro, Glu46Lys, and Ala53Thr) have been identified in families with autosomal dominantly inherited Parkinson's disease (PD). Carriers of the Ala30Pro mutation in the SNCA gene display typical clinical signs of idiopathic Parkinson's disease (IPD), including a positive and sustained response to levodopa therapy. The observation that SNCA represents the major component of the IPD-related inclusion bodies (Lewy neurites, Lewy bodies) raised the possibility that SNCA might contribute to neurodegeneration via protein misfolding and aggregation. Bi…
