Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family(492 views) Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, Netherlands
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Department of Medicine and Surgery, CEMAND, University of Salerno, Salerno, Italy
Dipartimento di Neuroscienze, Scienze Riproduttive Ed Odontostomatologiche, Universit degli Studi di Napoli Federico II, Via Pansini 5, 80131 Naples, Italy
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Barrett, J.C., Fry, B., Maller, J., Daly, M.J., Haploview: Analysis and visualization of LD and haplotype maps (2005) Bioinformatics, 21 (2), pp. 263-265. , DOI 10.1093/bioinformatics/bth457
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Trempe, J.F., Chen, C.X., Grenier, K., Camacho, E.M., Kozlov, G., McPherson, P.S., Gehring, K., Fon, E.A., SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination (2009) Mol Cell, 36 (6), pp. 1034-1047. , doi:10.1016/j.molcel.2009.11.021
Nemani, V.M., Lu, W., Berge, V., Nakamura, K., Onoa, B., Lee, M.K., Chaudhry, F.A., Edwards, R.H., Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis (2010) Neuron, 65 (1), pp. 66-79. , doi:10.1016/j.neuron.2009.12.023
Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c. 773G>A, p. Arg258Gln) segregating with a similar phenotype of early-onset parkinsonism and additional atypical features. Here, we report the identification of the same SYNJ1 homozygous mutation in two affected siblings of a third pedigree. Both siblings had mild developmental psychomotor delay, followed, during the third decade of life, by progressive parkinsonism, dystonia, and mild cognitive impairment. One sibling suffered one episode of generalized seizures. Neuroimaging studies revealed severe nigrostriatal dopaminergic defects, mild striatal and very mild cortical hypometabolism. Treatment with dopamine agonists and anticholinergics resulted in partial improvements. Genetic analyses revealed in both siblings the SYNJ1 homozygous c. 773G>A (p. Arg258Gln) mutation. Haplotype analysis suggests that the mutation has arisen independently in this family and the Sicilian PARK20 family previously described by us, in keeping with the hypothesis of a mutational hot spot. This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p. Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20. This newly recognized form must be considered in the diagnostic work-up of patients with early-onset atypical parkinsonism. The presence of seizures might represent a red flag to suspect PARK20. 2014 Springer-Verlag
Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
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Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G * The relationship between cerebral vascular disease and parkinsonism: The VADO study(497 views) Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780. Impact Factor:3.274 ViewExport to BibTeXExport to EndNote