Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based studyAdriano Chio
Department of Neuroscience, University of Torino, AOU San Giovanni Battista, Via Cherasco 15, 10126 Torino, Italy
J Neurol Neurosurg Psychiatry 82:740-6. 2011
..However, the differential characteristics of these phenotypes are still largely unknown...
Extensive genetics of ALS: a population-based study in ItalyAdriano Chio
ALS Center, Department of Neurosciences, University of Torino and AOU San Giovanni Battista of Torino, Torino, Italy
Neurology 79:1983-9. 2012
..To assess the frequency and clinical characteristics of patients with mutations of major amyotrophic lateral sclerosis (ALS) genes in a prospectively ascertained, population-based epidemiologic series of cases...
- UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study
Adriano Chio
ALS Center, Department of Neuroscience, University of Torino, and Azienda Ospedale Università San Giovanni Battista, Torino, Italy
Neurobiol Aging 34:357.e1-5. 2013
..The identification of UNC13A as a modifier of prognosis among sporadic ALS patients potentially provides a new therapeutic target aimed at slowing disease progression...
- ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
Adriano Chio
Department of Neuroscience, University of Torino, Torino, Italy
J Neurol Neurosurg Psychiatry 83:730-3. 2012
..In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene...
- Pain in amyotrophic lateral sclerosis: a population-based controlled study
A Chio
ALS Centre, Department of Neuroscience, University of Torino, Torino, Italy
Eur J Neurol 19:551-5. 2012
..To assess the prevalence and characteristics of pain in an epidemiological series of patients with amyotrophic lateral sclerosis (ALS) compared to population-based controls...
- Neurobehavioral dysfunction in ALS has a negative effect on outcome and use of PEG and NIV
A Chio
ALS Center, Department of Neuroscience, University of Torino, Torino, Italy
Neurology 78:1085-9. 2012
..To assess the effect of neurobehavioral dysfunction on amyotrophic lateral sclerosis (ALS) survival and on the use of life-prolonging therapies in a population-based setting...
- Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
Adriano Chio
Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
Brain 135:784-93. 2012
..Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis...
- Non-invasive ventilation in amyotrophic lateral sclerosis: a 10 year population based study
Adriano Chio
ALS Centre, Department of Neuroscience, University of Torino, Via Cherasco 15, Torino 10126, Italy
J Neurol Neurosurg Psychiatry 83:377-81. 2012
..To evaluate the clinical characteristics and outcome of non-invasive ventilation (NIV) in an epidemiological based series of amyotrophic lateral sclerosis (ALS) patients...
- Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
Parastoo Momeni
Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA
BMC Neurol 6:44. 2006
..A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p...
- Prevalence of SOD1 mutations in the Italian ALS population
A Chio
ALS Center, Department of Neuroscience, University of Torino, Via Cherasco 15, Torino 10126, Italy
Neurology 70:533-7. 2008
..However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts...
ALS patients and caregivers communication preferences and information seeking behaviourA Chio
ALS Centre, Department of Neuroscience, University of Torino, Torino, Italy
Eur J Neurol 15:55-60. 2008
..Health professionals should be aware that ALS patients and caregivers often use internet to obtain information and should help them to better sort-out and interpret the news they found...
- ALS clinical trials: do enrolled patients accurately represent the ALS population?
A Chio
ALS Centre, Department of Neuroscience, University of Turin, Turin
Neurology 77:1432-7. 2011
..To assess the effect of eligibility criteria in amyotrophic lateral sclerosis (ALS) clinical trials on the representativeness of the enrolled population...
- Idiopathic chronic inflammatory demyelinating polyneuropathy: an epidemiological study in Italy
A Chio
Department of Neuroscience, University of Torino, Italy
J Neurol Neurosurg Psychiatry 78:1349-53. 2007
..The clinical and epidemiological characteristics of chronic inflammatory demyelinating polyneuropathy (CIDP) in an Italian population were assessed...
- ALS in Italian professional soccer players: the risk is still present and could be soccer-specific
Adriano Chio
Department of Neuroscience, University of Turin, Turin, Italy
Amyotroph Lateral Scler 10:205-9. 2009
..The absence of ALS cases in professional road cyclists and basketball players indicates that ALS is not related to physical activity per se...
- A de novo missense mutation of the FUS gene in a "true" sporadic ALS case
Adriano Chio
ALS Center, Department of Neuroscience, University of Torino, Torino, Italy
Neurobiol Aging 32:553.e23-6. 2011
..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...
- Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations
Adriano Chio
Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
Arch Neurol 67:1002-9. 2010
..However, to our knowledge, there is only 1 description of 2 patients with FTLD and TARDBP gene mutations who later developed motor neuron disease...
- Neurobehavioral symptoms in ALS are negatively related to caregivers' burden and quality of life
A Chio
ALS Center, Department of Neuroscience, University of Torino, San Giovanni Battista Hospital, Torino, Italy
Eur J Neurol 17:1298-303. 2010
..To evaluate the frequency of neurobehavioral symptoms related to FTLD in a consecutive series of amyotrophic lateral sclerosis (ALS) patients and to assess their influence on patients' and caregivers' mood, burden, and quality of life...
- Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial
A Chio
Department of Neuroscience, Via Cherasco 15, 10126 Torino, Italy
Neurology 75:619-25. 2010
..4-0.8 mEq/L, therapeutic group [TG], vs 0.2-0.4 mEq/L, subtherapeutic group [STG])...
- Lower serum lipid levels are related to respiratory impairment in patients with ALS
A Chio
Department of Neuroscience, University of Torino, ALS Center, Torino, Italy
Neurology 73:1681-5. 2009
..To investigate this, we evaluated the status of blood lipids in a large Italian series of patients with ALS, and assessed the effect of hyperlipidemia on patients' survival...
- Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
Adriano Chio
Department of Neuroscience, University of Torino, Via Cherasco 15, Turin, Italy
Arch Neurol 68:594-8. 2011
..To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations...
- Comorbidity between CIDP and diabetes mellitus: only a matter of chance?
A Chio
Department of Neuroscience, Via Cherasco 15, 10126 Torino, Italy
Eur J Neurol 16:752-4. 2009
..It is well known that chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetes mellitus (DM) are often associated, but it is not clear if these two disorders are patogenetically correlated...
- Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
Adriano Chio
ALS Center, Department of Neuroscience, University of Turin, Turin, Italy
Neurobiol Aging 30:1272-5. 2009
..R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation...
- Tracheostomy in amyotrophic lateral sclerosis: a 10-year population-based study in Italy
A Chio
ALS Centre, Department of Neuroscience, University of Torino, Torino, Italy
J Neurol Neurosurg Psychiatry 81:1141-3. 2010
..In conclusion, in an epidemiological setting, ALS survival after tracheostomy was <1 year. Sociocultural factors influence the probability of choice to be tracheostomised, even in a highly socialized health system as Italian one...
- Epidemiology of ALS in Italy: a 10-year prospective population-based study
A Chio
Department of Neuroscience, University of Torino, Italy
Neurology 72:725-31. 2009
..To describe the temporal patterns of incidence and demographic characteristics of amyotrophic lateral sclerosis (ALS) in Piemonte and Valle d'Aosta, Italy, in the 10-year period 1995 through 2004...
- Guillain-Barré syndrome: a prospective, population-based incidence and outcome survey
A Chio
Department of Neuroscience, University of Turin, San Giovanni Battista Hospital, Italy
Neurology 60:1146-50. 2003
..The authors evaluated the incidence and long-term prognostic factors of Guillain-Barré syndrome (GBS) in a prospective, population-based study...
- Amyotrophic lateral sclerosis care in Italy: a nationwide study in neurological centers
A Chio
Department of Neuroscience, University of Turin Medical School, Turin, Italy
J Neurol Sci 191:145-50. 2001
..Therefore, there are considerable opportunities to improve the care of ALS patients in Italy, primarily through the education of neurologists on AAN standards of care for ALS...
- Early symptom progression rate is related to ALS outcome: a prospective population-based study
A Chio
Division of Neurology, Department of Neuroscience, University of Torino and Azienda Ospedaliera S Giovanni Battista, Torino, Italy
Neurology 59:99-103. 2002
..To define the factors related to ALS outcome in a population-based, prospective survey...
- Validity of hospital morbidity records for amyotrophic lateral sclerosis. A population-based study
Adriano Chio
2nd Division of Neurology, Department of Neuroscience, University of Turin and S Giovanni Battista Hospital, Via Cherasco 15, 10126 Torino, Italy
J Clin Epidemiol 55:723-7. 2002
..In conclusion, hospital discharge records appear to poorly reflect the incidence of ALS, and can be used only after clinical verification of the diagnosis...
- Amyotrophic lateral sclerosis associated with pregnancy: report of four new cases and review of the literature
Adriano Chio
Second Division of Neurology, Department of Neurosciences, University of Torino, Turin, Italy
Amyotroph Lateral Scler Other Motor Neuron Disord 4:45-8. 2003
..Generally, ALS does not have deleterious effects on fetal development. However, pregnancy in a woman with severe respiratory failure may precipitate the disease...
- Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study
Adriano Chio
Dipartimento di Neuroscienze, Centro per la Sclerosi Laterale Amiotrofica, Torino, Italy
Muscle Nerve 43:189-95. 2011
..G-CSF treatment was safe and feasible in a multicenter series of ALS patients. A decrease in the CSF levels of proinflammatory cytokines MCP-1 and IL-17 was found, indicating a G-CSF-induced central anti-inflammatory response...
- Cesare Lombroso, cortical dysplasia, and epilepsy: keen findings and odd theories
A Chio
Section of Neurology, Department of Neuroscience, University of Turin, Italy
Neurology 61:1412-6. 2003
..Cesare Lombroso supported a common origin of criminality, genius, and epilepsy as caused by factors impairing the embryonic development of the CNS, mainly affecting the hierarchically superior neural centers...
- Percutaneous radiological gastrostomy: a safe and effective method of nutritional tube placement in advanced ALS
A Chio
Second Division of Neurology, Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy
J Neurol Neurosurg Psychiatry 75:645-7. 2004
..As PEG is not indicated in patients with severe respiratory impairment, an alternative is percutaneous radiological gastrostomy (PRG), involving air insufflation into the stomach under fluoroscopic guidance for tube insertion...
- A cross sectional study on determinants of quality of life in ALS
A Chio
Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Torino, Italy
J Neurol Neurosurg Psychiatry 75:1597-601. 2004
..Understanding the determinants of quality of life (QoL) in amyotrophic lateral sclerosis (ALS) has become increasingly important with the recent emphasis on the comprehensive management of patients...
- Motor neuron disease and optic neuropathy after acute exposure to a methanol-containing solvent mixture
Adriano Chio
Neuroscience, University of Turin, Italy
Amyotroph Lateral Scler Other Motor Neuron Disord 5:188-91. 2004
..The temporal onset of the clinical symptoms, biological plausibility, young age of the patient and absence of neurological disorders in the family history raises suspicion of a possible causative relationship...
- Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players
Adriano Chio
Dipartimento di Scienze Fisiologiche Farmacologiche, Cellulari Molecolari, Sezione di Farmacologia e Biotecnologie Farmacologiche, Universita di Pavia, Italy
Brain 128:472-6. 2005
..2, 95% CI, 3.1-44.4; < or =5 years, 3.5, 95% CI, 0.4-12.7). Our findings seem to indicate that playing professional football is a strong risk factor for ALS...
- Caregiver burden and patients' perception of being a burden in ALS
A Chio
Department of Neuroscience, University of Turin, Italy
Neurology 64:1780-2. 2005
..ALS patients have a good objective perception of their impact on caregivers...
- Positive effects of tertiary centres for amyotrophic lateral sclerosis on outcome and use of hospital facilities
A Chio
Divisione di Neurologia 1, Dipartimento di Neuroscienze, Universita di Torino, Torino, Italy
J Neurol Neurosurg Psychiatry 77:948-50. 2006
..To evaluate the effects of tertiary centres for amyotrophic lateral sclerosis (ALS) on ALS outcome and the use of hospital facilities...
- Caregiver time use in ALS
A Chio
Department of Neuroscience, University of Turin, Torino, Italy
Neurology 67:902-4. 2006
..With worsening of patients' disability, families relied increasingly on paid caregivers. Caregiver time is a hidden cost of ALS care and is a major burden for caregivers...
- Breaking the news in amyotrophic lateral sclerosis
Adriano Chio
Second Division of Neurology, Department of Neuroscience, University of Turin, Italy
Amyotroph Lateral Scler Other Motor Neuron Disord 5:195-201. 2004
..Written material may increase satisfaction of patients and their relatives, but should never substitute for face-to-face discussion...
- An ALS case with a novel D90N-SOD1 heterozygous missense mutation
Andrea Calvo
Department of Neuroscience, University of Turin, Turin, Italy
Amyotroph Lateral Scler 13:393-5. 2012
..D90N). Our report confirms that ALS patients with D90 codon heterozygous mutations may be associated with rapid progression and a prominent pain syndrome...
- Religiousness is positively associated with quality of life of ALS caregivers
Andrea Calvo
ALS Centre, Department of Neuroscience, University of Turin, Italy
Amyotroph Lateral Scler 12:168-71. 2011
..Health care professionals caring for ALS patients should consider that the needs of the caregivers include religious/spiritual concerns...
- Monomelic amyotrophy is not always benign: a case report
Cristina Moglia
ALS Centre, Department of Neuroscience, University of Turin, San Giovanni Hospital, Torino, Italy
Amyotroph Lateral Scler 12:307-8. 2011
..This case demonstrates that monomelic amyotrophy may rarely evolve to a diffuse fatal MND, even after more than a decade of clinical stability. Our findings support the idea that MA is part of the clinical continuum of MND...
- A longitudinal study on quality of life and depression in ALS patient-caregiver couples
A Gauthier
Dipartimento di Neuroscienze, University of Torino, Torino, Italy
Neurology 68:923-6. 2007
....
- Brain hypermetabolism in amyotrophic lateral sclerosis: a FDG PET study in ALS of spinal and bulbar onset
Angelina Cistaro
Positron Emission Tomography Center IRMET S p A, Turin, Italy
Eur J Nucl Med Mol Imaging 39:251-9. 2012
..To identify the neurobiological traits of amyotrophic lateral sclerosis (ALS) and to elucidate functional differences between ALS of spinal and bulbar onset. We hypothesized that glucose metabolism distribution might vary between groups...
- Prognostic factors in ALS: A critical review
Adriano Chio
Department of Neuroscience, University of Torino and San Giovanni Battista Hospital, Turin, Italy
Amyotroph Lateral Scler 10:310-23. 2009
..Alternative trial designs can include the use of natural history controls, the so-called minimization method for treatment allocation, and the futility approach...
- Follow-up of patients affected by manganese-induced Parkinsonism after treatment with CaNa2EDTA
Elena Herrero Hernandez
Department of Traumatology, Orthopaedics and Occupational Health, Neurotoxicology Unit, University of Turin, Via Zuretti 29, 10126 Turin, Italy
Neurotoxicology 27:333-9. 2006
..Therefore, chelating treatment can be a great aid in overt manganism, but particular attention must be paid to primary prevention, as this disease should now be totally preventable and definitely merits eradication...
- A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
Adriano Chio
Department of Neuroscience, University of Turin, Turin, Italy
Hum Mol Genet 18:1524-32. 2009
..Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors...
- Epidemiology of adult medulloblastoma
M T Giordana
Department of Neuroscience, University of Turin, Italy
Int J Cancer 80:689-92. 1999
..The figure is higher than that generally assumed, and indicates that the occurrence of this embryonal tumor in adult age is relevant. Our epidemiological data are consistent with an embryonal origin of medulloblastoma...
- Multiple sclerosis relapses: a multivariable analysis of residual disability determinants
M Vercellino
Department of Neuroscience, University of Turin, Italy
Acta Neurol Scand 119:126-30. 2009
..Recovery from multiple sclerosis (MS) relapses is variable. The factors influencing persistence of residual disability (RD) after a relapse are still to be thoroughly elucidated...
- Anxiety undermines quality of life in ALS patients and caregivers
A Vignola
Department of Neuroscience, ALS Center, University of Torino, Torino, Italy
Eur J Neurol 15:1231-6. 2008
..Although depression has been widely studied in amyotrophic lateral sclerosis (ALS), there is little information on anxiety...
- SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Elisa Rubino
Neurology II, Department of Internal Medicine, University of Torino, Torino, Italy
Neurology 79:1556-62. 2012
..The purpose of our study was to evaluate the frequency of SQSTM1 mutations in a dataset of unrelated patients with FTLD or ALS, in comparison with healthy controls and patients with Paget disease of bone (PDB)...
- Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes of ALS patients with and without TARDBP mutations
Giovanni De Marco
Department of Medicine and Experimental Oncology, Section of Biochemistry, University of Turin, Turin, Italy
Acta Neuropathol 121:611-22. 2011
..Were these findings further confirmed, circulating lymphomonocytes could be informative of TDP-43 mislocalisation in nervous tissue and used as a biomarker for future disease risk...
- The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation
G Restagno
S C Molecolare, Dipartmento di Patalogia Clinica, A O O I R M S Anna, Torino, Italy
Amyotroph Lateral Scler Other Motor Neuron Disord 6:45-9. 2005
..These results strongly support the idea that the IVS1 +319 t>a alone is not an ALS causing mutation, and that special care must be taken in the interpretation of data from mutations databases for correct genetic counselling...
- Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial
Corrado Tarella
Dip Medicina Oncologia Sperimentale, SC Universitaria di Ematologia and Molecular Biotechnology Center, Torino, Italy
Cytotherapy 12:50-9. 2010
....
- Anaplasia is rare and does not influence prognosis in adult medulloblastoma
Maria Teresa Giordana
Department of Neuroscience, University of Torino, Torino, Italy
J Neuropathol Exp Neurol 64:869-74. 2005
..Histopathologic factors have no clinical use for stratification of patients in risk groups. The histologic spectrum of medulloblastoma in adults is different from that in children...
- The sinister side of Italian soccer
Simone Beretta
Department of Neuroscience, University of Milano-Bicocca, Milan, Italy
Lancet Neurol 2:656-7. 2003
- MGMT promoter hypermethylation in a series of 104 glioblastomas
Marta Mellai
Neuro bio oncology Center of Policlinico di Monza Foundation, University of Turin, Via Pietro Micca, 29 13100 Vercelli, Italy
Cancer Genomics Proteomics 6:219-27. 2009
..To evaluate MGMT promoter hypermethylation as prognostic factor in a retrospective study of 104 cases of glioblastoma multiforme (GBM)...
- Risk of cancer in patients with Guillain-Barré syndrome (GBS). A population-based study
Maria Claudia Vigliani
2nd Division of Neurology, Dept of Neuroscience, University of Turin, Turin, Italy
J Neurol 251:321-6. 2004
..These results suggest a possible correlation between some cases of GBS and cancer. However, GBS in cancer patients does not meet all the criteria for paraneoplastic diseases...
- Morphophenotype of medulloblastoma in children and adults. The size of nuclei
C Dagostino
Department of Neuroscience, University of Torino, Italy
Clin Neuropathol 25:227-31. 2006
..Distinct genetic events can, thus, underlie medulloblastoma in childhood and adult age, the prognostic role of genetic variables can differ by age...
- Involvement of immune response in the pathogenesis of amyotrophic lateral sclerosis: a therapeutic opportunity?
A Calvo
ALS Center, Department of Neuroscience, University of Torino, Italy
CNS Neurol Disord Drug Targets 9:325-30. 2010
..The multiple aspects of the immune response in ALS are beginning to be appreciated, and their potential as pharmacologic targets in neurologic disease is being explored...
- Deregulation of the p14ARF/Mdm2/p53 pathway and G1/S transition in two glioblastoma sets
Chiara Ghimenti
Department of Neuroscience, University of Turin, Turin, Italy
J Neurooncol 61:95-102. 2003
..All glioblastomas with gemistocytic areas showed p14ARF inactivation. Immunohistochemistry showed higher percentages of positivity in comparison with molecular genetics, but with similar variations...
