Article
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Human mutation - 1 Sept 2013
Quadri Marialuisa, Fang Mingyan, Picillo Marina, Olgiati Simone, Breedveld Guido J, Graafland Josja, Wu Bin, Xu Fengping, Erro Roberto, Amboni Marianna, Pappatà Sabina, Quarantelli Mario, Annesi Grazia, Quattrone Aldo, Chien Hsin F, Barbosa Egberto R, Oostra Ben A, Barone Paolo, Wang Jun, Bonifati Vincenzo
Abstract excerpt
Autosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration. Response to levodopa was poor, and limited by side effects. Neuroimaging...
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