Articolo in rivista, 2018, ENG, 10.1016/j.parkreldis.2018.06.004
Monica Gagliardi a, Grazia Annesi a, Radha Procopioa b, Maurizio Morelli b, Grazia Iannello a, Giuseppe Bonapace c, Manuela Mancini b, Giuseppe Nicoletti a, Aldo Quattrone a,d
a. Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy b. Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy c. Department of Medical and Surgical Science, Pediatrics Unit, University Magna Graecia, Catanzaro, Italy d. Neuroscience Research Center, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy
BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder, and the most common neurodegenerative form of parkinsonism. Recently, a pathogenic mutation (p.N855S) in DNAJC13 was linked to autosomal dominant Lewy body PD in a Dutch-German-Russian Mennonite multi-incident kindred, and was found in five additional patients. In this study, we performed a comprehensive screening of the DNAJC13 gene in familial PD and sporadic PD to assess the frequency of known and novel rare nonsynonymous variants. METHODS: We screened 563 sporadic and 168 familial PD patients and a control series (n = 1000) for the coding region of DNAJC13. RESULTS: Our sequencing analysis identified two carriers of the c.2708G > A (p.R903K) variant in exon 24 of DNAJC13. One of these carriers is a familial PD. CONCLUSION: The p. R903K variant was not found in 1000 healthy controls and it is localized in a functional domain of the DNAJC13 protein. Further studies are necessary to evaluate the role of DNAJC13 variants in PD.
Parkinsonism & related disorders 55 , pp. 134–137
DNAJC13, Parkinson's disease, Autosomal dominant form
Quattrone Aldo, Gagliardi Monica, Annesi Grazia, Nicoletti Giuseppe
ID: 388150
Year: 2018
Type: Articolo in rivista
Creation: 2018-06-15 10:45:42.000
Last update: 2021-01-27 11:13:51.000
CNR institutes
External IDs
CNR OAI-PMH: oai:it.cnr:prodotti:388150
DOI: 10.1016/j.parkreldis.2018.06.004
PubMed: 29887357