{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T17:04:58Z","timestamp":1789837498314,"version":"4.0.1"},"reference-count":78,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T00:00:00Z","timestamp":1741305600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u2018ex60%\u2019 Research fund\u2014University of Brescia, Italy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Parkinson\u2019s Disease (PD) is the most frequent movement disorder and is second only to Alzheimer\u2019s Disease as the most frequent neurodegenerative pathology. Early onset Parkinson\u2019s disease (EOPD) is less common and may be characterized by genetic predisposition. NGS testing might be useful in the diagnostic assessment of these patients. A panel of eight genes (SNCA, PRKN, PINK1, DJ1, LRRK2, FBXO7, GBA1 and HFE) was validated and used as a diagnostic tool. A total of 38 in sequence EOPD patients of the Parkinson\u2019s Disease Unit of our Hospital Institution were tested. In addition, the number of the hexanucleotide repeats of the C9ORF72 gene and the frequency of main HFE mutations were evaluated. Six patients were carriers of likely pathogenic mutations in heterozygosity in the analyzed genes, one of them presented mutations in association and another had a complex genetic background. Their clinical symptoms were correlated with their genotypes. In the cohort of patients, only the p.Cys282Tyr of HFE was significantly decreased in the dominant model and allele contrast comparison. Only one patient with one allele of C9ORF72 containing 10 repeats was identified and clinically described. The clinical signs of sporadic and monogenic PD are often very similar; for this reason, it is fundamental to correlate genotypes and phenotypes, as we tried to describe here, to better classify PD patients with the aim to deepen our knowledge in the molecular mechanisms involved and collaborate in reaching a personalized management and treatment.<\/jats:p>","DOI":"10.3390\/ijms26062397","type":"journal-article","created":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T07:05:46Z","timestamp":1741331146000},"page":"2397","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Next Generation Sequencing Analysis in Patients Affected by Parkinson\u2019s Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases"],"prefix":"10.3390","volume":"26","author":[{"given":"Andrea","family":"Pilotto","sequence":"first","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy"},{"name":"Neurology Unit, Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia University Hospital, 25123 Brescia, Italy"},{"name":"Laboratory of Digital Neurology and Biosensors, University of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7243-0673","authenticated-orcid":false,"given":"Mattia","family":"Carini","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy"},{"name":"Highly Specialized Laboratory, ASST Spedali Civili of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7881-7550","authenticated-orcid":false,"given":"Roberto","family":"Bresciani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy"},{"name":"Highly Specialized Laboratory, ASST Spedali Civili of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4742-7445","authenticated-orcid":false,"given":"Eugenio","family":"Monti","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Pediatrics, Mother\u2019s and Baby\u2019s Health Department, Poliambulanza Foundation Hospital Institute, 25124 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2221-6286","authenticated-orcid":false,"given":"Maria Antonia","family":"De Francesco","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy"},{"name":"Highly Specialized Laboratory, ASST Spedali Civili of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Padovani","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy"},{"name":"Neurology Unit, Department of Continuity of Care and Frailty, ASST Spedali Civili Brescia University Hospital, 25123 Brescia, Italy"},{"name":"Laboratory of Digital Neurology and Biosensors, University of Brescia, 25123 Brescia, Italy"},{"name":"Brain Health Center, University of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7495-7807","authenticated-orcid":false,"given":"Giorgio","family":"Biasiotto","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy"},{"name":"Highly Specialized Laboratory, ASST Spedali Civili of Brescia, 25123 Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/S1474-4422(06)70471-9","article-title":"Epidemiology of Parkinson\u2019s disease","volume":"5","author":"Breteler","year":"2006","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1007\/s00702-017-1686-y","article-title":"Epidemiology of Parkinson\u2019s disease","volume":"124","author":"Tysnes","year":"2017","journal-title":"J. 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