{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:20:09Z","timestamp":1781846409733,"version":"3.54.5"},"reference-count":43,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T00:00:00Z","timestamp":1658448000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Amyotrophic lateral sclerosis (ALS) and Alzheimer\u2019s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson\u2019s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.025). This finding is consistent with current literature, as parkin levels were found to be decreased in ALS animal models and patients. Our results confirm the possible role of PD-related genes as risk modifier in ALS pathogenesis.<\/jats:p>","DOI":"10.3390\/genes13081306","type":"journal-article","created":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T12:53:45Z","timestamp":1658494425000},"page":"1306","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Frequency of Parkinson\u2019s Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3607-2394","authenticated-orcid":false,"given":"Veria","family":"Vacchiano","sequence":"first","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Universit\u00e0 di Bologna, 40123 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bartoletti-Stella","sequence":"additional","affiliation":[{"name":"Department of Experimental Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Rizzo","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Avoni","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Universit\u00e0 di Bologna, 40123 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9444-9524","authenticated-orcid":false,"given":"Piero","family":"Parchi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Universit\u00e0 di Bologna, 40123 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Salvi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Universit\u00e0 di Bologna, 40123 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1631-1439","authenticated-orcid":false,"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Universit\u00e0 di Bologna, 40123 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1136\/jnnp-2011-300188","article-title":"The syndrome of cognitive impairment in amyotrophic lateral sclerosis: A population-based study","volume":"83","author":"Phukan","year":"2012","journal-title":"J. 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