Adriano Chio



  1. Chio A, Calvo A, Moglia C, Mazzini L, Mora G. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82:740-6 pubmed publisher
    ..However, the differential characteristics of these phenotypes are still largely unknown...
  2. Iazzolino B, Pain D, Peotta L, Calvo A, Moglia C, Canosa A, et al. Validation of the revised classification of cognitive and behavioural impairment in ALS. J Neurol Neurosurg Psychiatry. 2019;: pubmed publisher
    ..The new ALSFTD-2 criteria, compared with the old ones, have positive effects on the clinical practice being more sensitive to the early cognitive impairment and having a better prognostic yield. ..
  3. Moglia C, Calvo A, Grassano M, Canosa A, Manera U, D Ovidio F, et al. Early weight loss in amyotrophic lateral sclerosis: outcome relevance and clinical correlates in a population-based cohort. J Neurol Neurosurg Psychiatry. 2019;: pubmed publisher
    ..According to our findings, we recommend that in clinical trials patients should be stratified according to the presence of dysphagia at the time of enrolment and not by site of onset of symptoms. ..
  4. Chio A, Mazzini L, D Alfonso S, Corrado L, Canosa A, Moglia C, et al. The multistep hypothesis of ALS revisited: The role of genetic mutations. Neurology. 2018;91:e635-e642 pubmed publisher
  5. Chiò A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, et al. A de novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiol Aging. 2011;32:553.e23-6 pubmed publisher
    ..R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease. ..
  6. Chiò A, Pagani M, Agosta F, Calvo A, Cistaro A, Filippi M. Neuroimaging in amyotrophic lateral sclerosis: insights into structural and functional changes. Lancet Neurol. 2014;13:1228-40 pubmed publisher
    ..Studies involving international collaborations, standardised assessments, and large patient cohorts will overcome these shortcomings and provide further insight into the pathogenesis of ALS. ..
  7. Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Traynor B, et al. De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case. Neurobiol Aging. 2014;35:1513.e7-11 pubmed publisher
    ..De novo mutations could account for a sizable number of apparently sporadic ALS patients carrying mutations of ALS-related genes. ..
  8. Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al. HFE p.H63D polymorphism does not influence ALS phenotype and survival. Neurobiol Aging. 2015;36:2906.e7-11 pubmed publisher
    ..Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients. ..
  9. Chio A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, et al. Extensive genetics of ALS: a population-based study in Italy. Neurology. 2012;79:1983-9 pubmed publisher
    ..012). We have found that ?11% of patients with ALS carry a genetic mutation, with C9ORF72 being the commonest genetic alteration. Comorbid FTD or a young age at onset are strong indicators of a possible genetic origin of the disease. ..

More Information


  1. Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging. 2009;30:1272-5 pubmed publisher
    ..R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation. ..
  2. Borghero G, Pugliatti M, Marrosu F, Marrosu M, Murru M, Floris G, et al. Genetic architecture of ALS in Sardinia. Neurobiol Aging. 2014;35:2882.e7-2882.e12 pubmed publisher
  3. Chiò A, Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, et al. ATXN2 polyQ intermediate repeats are a modifier of ALS survival. Neurology. 2015;84:251-8 pubmed publisher
    ..5-3.4; polyQ <31, 3.2 years, IQR 2.0-6.4; p = 0.007). ATXN2 polyQ intermediate-length repeat is a modifier of ALS survival. Disease-modifying therapies targeted to ATXN2 represent a promising therapeutic approach for ALS. ..
  4. Chio A, Calvo A, Moglia C, Gamna F, Mattei A, Mazzini L, et al. Non-invasive ventilation in amyotrophic lateral sclerosis: a 10 year population based study. J Neurol Neurosurg Psychiatry. 2012;83:377-81 pubmed publisher
    ..Efforts should be made to remove these obstacles in order to spread the use of NIV in all ALS patients with respiratory failure. ..
  5. Canosa A, Pagani M, Cistaro A, Montuschi A, Iazzolino B, Fania P, et al. 18F-FDG-PET correlates of cognitive impairment in ALS. Neurology. 2016;86:44-9 pubmed publisher
  6. Borghero G, Pugliatti M, Marrosu F, Marrosu M, Murru M, Floris G, et al. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. Neurobiol Aging. 2015;36:2906.e1-5 pubmed publisher
    ..035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival. ..
  7. Chiò A, Calvo A, Moglia C, Restagno G, Ossola I, Brunetti M, et al. Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. Arch Neurol. 2010;67:1002-9 pubmed publisher
    ..Three apparently unrelated families with familial ALS carrying the p.Ala382Thr TARDBP missense mutation developed FTLD. In these families, FTLD cosegregates with ALS. Patients with ALS carrying TARDBP mutations may develop FTLD. ..
  8. Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol. 2011;68:594-8 pubmed publisher
    ..The TARDBP p.A382T missense mutation accounts for approximately one-third of all ALS cases in this island population. These patients share a large risk haplotype across the TARDBP locus, indicating that they have a common ancestor. ..
  9. Chiò A, Mora G, Sabatelli M, Caponnetto C, Traynor B, Johnson J, et al. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging. 2015;36:1767.e3-1767.e6 pubmed publisher
    ..We confirm that CHCHD10 mutations account for ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs. ..
  10. Chio A, Calvo A, Ilardi A, Cavallo E, Moglia C, Mutani R, et al. Lower serum lipid levels are related to respiratory impairment in patients with ALS. Neurology. 2009;73:1681-5 pubmed publisher
    ..However, some evidence emerged that respiratory impairment, but not a worse clinical status or a lower body mass index, is related to a decrease in blood lipids and LDL/HDL ratio. ..
  11. Chio A, Mora G, Lauria G. Pain in amyotrophic lateral sclerosis. Lancet Neurol. 2017;16:144-157 pubmed publisher
    ..Further understanding of the pathophysiology is crucial to drive assessment in clinical trials of therapeutic strategies targeted at specific mechanisms and studies of individualised therapies. ..
  12. Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor B, et al. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. Neurobiol Aging. 2016;39:218.e5-8 pubmed publisher
  13. Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor B, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain. 2012;135:784-93 pubmed publisher
    ..Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis. ..
  14. Chiò A, Mora G, Restagno G, Brunetti M, Ossola I, Barberis M, et al. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging. 2013;34:357.e1-5 pubmed publisher
    ..The identification of UNC13A as a modifier of prognosis among sporadic ALS patients potentially provides a new therapeutic target aimed at slowing disease progression. ..
  15. Chio A, Borghero G, Calvo A, Capasso M, Caponnetto C, Corbo M, et al. Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial. Neurology. 2010;75:619-25 pubmed publisher
    ..4-0.8 mEq/L, therapeutic group [TG], vs 0.2-0.4 mEq/L, subtherapeutic group [STG])...
  16. Chio A, Traynor B, Lombardo F, Fimognari M, Calvo A, Ghiglione P, et al. Prevalence of SOD1 mutations in the Italian ALS population. Neurology. 2008;70:533-7 pubmed publisher
    ..7% of sporadic ALS cases had a SOD1 mutation. Our data indicate that studies from referral centers may overestimate the frequency of FALS and of SOD1 mutations in sporadic ALS. ..
  17. Borghero G, Pugliatti M, Marrosu F, Marrosu M, Murru M, Floris G, et al. TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiol Aging. 2016;43:180.e1-5 pubmed publisher
    ..We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions. ..
  18. Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, et al. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry. 2012;83:730-3 pubmed publisher
    ..22 locus. Our data show that in rare neurodegenerative causing genes can co-exist within the same individuals and are associated with a more severe disease course. ..