Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network

Specific saccadic abnormalities follow basal ganglia dysfunction. Eye movements are indeed often analyzed to differentiate parkinsonian syndromes and to provide new insights into the modulatory role of the basal ganglia. Nevertheless, the oculomotor description of most inherited parkinsonisms is still lacking. Here, we analyzed the eye movement characteristics of three inherited parkinsonian syndromes (genetic Parkinson's disease, PDG): Parkinson's disease 9 (or Kufor-Rakeb syndrome, PARK9, #606693), due to recessive mutations in ATP13A2 encoding the lysosomal P-type ATPase PARK9 (Ramirez et al., 2006; Gitler et al., 2009); hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMNDYT1, #613280) due to recessive mutations in SLC30A10 leading to manganese accumulation in the liver, bone marrow, and nervous system (Quadri et al., 2012), and Parkinson's disease 1 (PARK1, #168601) associated with dominant mutations in SNCA encoding α-synuclein (Golbe et al., 1990).

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