Andrea Ghezzi, Giulia Gianferrari, Elisa Baldassarri, Elisabetta Zucchi, Ilaria Martinelli, Veria Vacchiano, Luigi Bonan, Lucia Zinno, Andi Nuredini, Elena Canali, Matteo Gizzi, Emilio Terlizzi, Doriana Medici, Elisabetta Sette, Marco Currò Dossi, Simonetta Morresi, Mario Santangelo, Alberto Patuelli, Marco Longoni, Patrizia De Massis, Salvatore Ferro, Nicola Fini, Cecilia Simonini, Serena Carra, Giovanna Zamboni, Jessica Mandrioli
{"title":"Emilia Romagna登记的C9ALS患者的表型特征：一项回顾性病例对照研究。","authors":"Andrea Ghezzi, Giulia Gianferrari, Elisa Baldassarri, Elisabetta Zucchi, Ilaria Martinelli, Veria Vacchiano, Luigi Bonan, Lucia Zinno, Andi Nuredini, Elena Canali, Matteo Gizzi, Emilio Terlizzi, Doriana Medici, Elisabetta Sette, Marco Currò Dossi, Simonetta Morresi, Mario Santangelo, Alberto Patuelli, Marco Longoni, Patrizia De Massis, Salvatore Ferro, Nicola Fini, Cecilia Simonini, Serena Carra, Giovanna Zamboni, Jessica Mandrioli","doi":"10.3390/genes16030309","DOIUrl":null,"url":null,"abstract":"<p><strong>Background/objectives: </strong><i>C9ORF72</i> expansion is associated with significant phenotypic heterogeneity. This study aimed to characterize the clinical features of C9ALS patients from the Emilia Romagna ALS registry (ERRALS) and compare them with non-mutated ALS (nmALS) patients matched for sex, age at onset, and diagnostic delay, sourced from the same register.</p><p><strong>Methods: </strong>In total, 67 C9ALS patients were compared to 201 nmALS. Clinical data, phenotype, and prognostic factors were analyzed in the two groups and within the C9ALS group after stratification by sex.</p><p><strong>Results: </strong>C9ALS patients displayed a higher disease progression rate and shorter times to gastrostomy and invasive ventilation, despite no differences in overall survival. Female C9ALS had a more severe bulbar and upper motor neuron involvement compared to males. Cognitive and behavioral symptoms were more common in the C9ALS group, and the former was an independent prognostic factor. Prevalences of, autoimmune diseases, and dyslipidemia were significantly higher among C9ALS patients.</p><p><strong>Conclusions: </strong>In our dataset, we show an overall increased disease progression rate in C9ALS patients and hint at sex-specific discrepancies in some phenotypical characteristics. We also suggest a possible clinically relevant involvement of <i>C9ORF72</i> expansion in metabolism and autoimmunity.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942173/pdf/","citationCount":"0","resultStr":"{\"title\":\"Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case-Control Study.\",\"authors\":\"Andrea Ghezzi, Giulia Gianferrari, Elisa Baldassarri, Elisabetta Zucchi, Ilaria Martinelli, Veria Vacchiano, Luigi Bonan, Lucia Zinno, Andi Nuredini, Elena Canali, Matteo Gizzi, Emilio Terlizzi, Doriana Medici, Elisabetta Sette, Marco Currò Dossi, Simonetta Morresi, Mario Santangelo, Alberto Patuelli, Marco Longoni, Patrizia De Massis, Salvatore Ferro, Nicola Fini, Cecilia Simonini, Serena Carra, Giovanna Zamboni, Jessica Mandrioli\",\"doi\":\"10.3390/genes16030309\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background/objectives: </strong><i>C9ORF72</i> expansion is associated with significant phenotypic heterogeneity. This study aimed to characterize the clinical features of C9ALS patients from the Emilia Romagna ALS registry (ERRALS) and compare them with non-mutated ALS (nmALS) patients matched for sex, age at onset, and diagnostic delay, sourced from the same register.</p><p><strong>Methods: </strong>In total, 67 C9ALS patients were compared to 201 nmALS. Clinical data, phenotype, and prognostic factors were analyzed in the two groups and within the C9ALS group after stratification by sex.</p><p><strong>Results: </strong>C9ALS patients displayed a higher disease progression rate and shorter times to gastrostomy and invasive ventilation, despite no differences in overall survival. Female C9ALS had a more severe bulbar and upper motor neuron involvement compared to males. Cognitive and behavioral symptoms were more common in the C9ALS group, and the former was an independent prognostic factor. Prevalences of, autoimmune diseases, and dyslipidemia were significantly higher among C9ALS patients.</p><p><strong>Conclusions: </strong>In our dataset, we show an overall increased disease progression rate in C9ALS patients and hint at sex-specific discrepancies in some phenotypical characteristics. We also suggest a possible clinically relevant involvement of <i>C9ORF72</i> expansion in metabolism and autoimmunity.</p>\",\"PeriodicalId\":12688,\"journal\":{\"name\":\"Genes\",\"volume\":\"16 3\",\"pages\":\"\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-03-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942173/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.3390/genes16030309\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3390/genes16030309","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case-Control Study.
Background/objectives: C9ORF72 expansion is associated with significant phenotypic heterogeneity. This study aimed to characterize the clinical features of C9ALS patients from the Emilia Romagna ALS registry (ERRALS) and compare them with non-mutated ALS (nmALS) patients matched for sex, age at onset, and diagnostic delay, sourced from the same register.
Methods: In total, 67 C9ALS patients were compared to 201 nmALS. Clinical data, phenotype, and prognostic factors were analyzed in the two groups and within the C9ALS group after stratification by sex.
Results: C9ALS patients displayed a higher disease progression rate and shorter times to gastrostomy and invasive ventilation, despite no differences in overall survival. Female C9ALS had a more severe bulbar and upper motor neuron involvement compared to males. Cognitive and behavioral symptoms were more common in the C9ALS group, and the former was an independent prognostic factor. Prevalences of, autoimmune diseases, and dyslipidemia were significantly higher among C9ALS patients.
Conclusions: In our dataset, we show an overall increased disease progression rate in C9ALS patients and hint at sex-specific discrepancies in some phenotypical characteristics. We also suggest a possible clinically relevant involvement of C9ORF72 expansion in metabolism and autoimmunity.
期刊介绍：
Genes (ISSN 2073-4425) is an international, peer-reviewed open access journal which provides an advanced forum for studies related to genes, genetics and genomics. It publishes reviews, research articles, communications and technical notes. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
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