Alessandra Gaiani
University of Padua
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Featured researches published by Alessandra Gaiani.
Journal of Neurology, Neurosurgery, and Psychiatry | 2016
Giorgia Querin; Cinzia Bertolin; Elisa Da Re; Marco Volpe; Gabriella Zara; Elena Pegoraro; Nicola Caretta; Carlo Foresta; Maria Silvano; Domenico Corrado; Massimo Iafrate; Lorenzo Angelini; Leonardo Sartori; Maria Pennuto; Alessandra Gaiani; Luca Bello; Claudio Semplicini; Davide Pareyson; Vincenzo Silani; Mario Ermani; Alberto Ferlin; Gianni Sorarù
Objective To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Results Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. Conclusions Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.
European Journal of Human Genetics | 2013
Francesco Danilo Tiziano; Rosa Lomastro; Lorena Di Pietro; Maria Barbara Pasanisi; Stefania Fiori; Carla Angelozzi; Emanuela Abiusi; Corrado Angelini; Gianni Sorarù; Alessandra Gaiani; Tiziana Mongini; Liliana Vercelli; Gessica Vasco; Giuseppe Vita; Gian Luca Vita; Sonia Messina; Luisa Politano; Luigia Passamano; Grazia Di Gregorio; Cristina Montomoli; Chiara Orsi; Angela Campanella; Renato Mantegazza; Lucia Morandi
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. Based on severity, three forms of SMA are recognized (types I–III). All patients usually have 2–4 copies of a highly homologous gene (SMN2), which produces insufficient levels of functional survival motor neuron (SMN) protein due to the alternative splicing of exon 7. The availability of potential candidates to the treatment of SMA has raised a number of issues, including the availability of biomarkers. This study was aimed at evaluating whether the quantification of SMN2 products in peripheral blood is a suitable biomarker for SMA. Forty-five adult type III patients were evaluated by Manual Muscle Testing, North Star Ambulatory Assessment scale, 6-min walk test, myometry, forced vital capacity, and dual X-ray absorptiometry. Molecular assessments included SMN2 copy number, levels of full-length SMN2 (SMN2-fl) transcripts and those lacking exon 7 and SMN protein. Clinical outcome measures strongly correlated to each other. Lean body mass correlated inversely with years from diagnosis and with several aspects of motor performance. SMN2 copy number and SMN protein levels were not associated with motor performance or transcript levels. SMN2-fl levels correlated with motor performance in ambulant patients. Our results indicate that SMN2-fl levels correlate with motor performance only in patients preserving higher levels of motor function, whereas motor performance was strongly influenced by disease duration and lean body mass. If not taken into account, the confounding effect of disease duration may impair the identification of potential SMA biomarkers.
JAMA Neurology | 2017
Alessandra Gaiani; Ilaria Martinelli; Luca Bello; Giorgia Querin; Marco Puthenparampil; Susanna Ruggero; Elisabetta Toffanin; Annachiara Cagnin; Chiara Briani; Elena Pegoraro; Gianni Sorarù
Importance A clearer definition of the role of neurofilament light chain (NFL) as a biomarker in amyotrophic lateral sclerosis (ALS) is needed. Objectives To assess the ability of NFL to serve as a diagnostic biomarker in ALS and the prognostic value of cerebrospinal fluid NFL in patients with ALS. Design, Setting, and Participants In this single-center, retrospective, longitudinal study, disease progression was assessed by the ALS Functional Rating Score–Revised and the ALS Milano-Torino Staging system at baseline and 6, 12, 24, and 36 months. Cerebrospinal fluid samples were obtained from 176 patients admitted to the Department of Neurosciences of the University of Padua, Padova, Italy, from January 1, 2010, through February 29, 2016. Patients with ALS underwent ambulatory follow-up at the same department. Main Outcomes and Measures Levels of NFL. Results The study included 94 patients with ALS (64 men [36.4%] and 30 women [17.0%]; median age, 62.5 years), 20 patients with frontotemporal dementia (FTD) (8 men [4.5%] and 12 women [6.8%]; median age, 65 years), 18 patients with motor neuropathies (14 men [8.0%] and 4 women [2.3%]; median age, 63 years), and 44 controls (24 men [13.6%] and 20 women [11.4%]; median age, 54 years). Log-transformed NFL (log[NFL]) concentrations were higher in the ALS and FTD groups compared with the motor neuropathies and control groups (hazard ratio [HR], 2.45; 95% CI, 1.66-3.61; P < .001). Patients with typical ALS (HR, 1.0 [reference]), progressive bulbar palsy (HR, 1.48; 95% CI, 0.58-3.75; P = .41), and upper motor neuron dominant ALS (HR, 0.12; 95% CI, 0.02-0.61; P = .01) had higher levels of NFL than did those with flail arm or leg syndrome (HR, 0.28; 95% CI, 0.08-0.10; P = .049) and progressive muscular atrophy (HR, 0.17; 95% CI, 0.22-1.36; P = .10). There was an inverse correlation between log[NFL] concentration and overall survival (HR, 2.45; 95% CI, 1.66-3.61; P < .001). There was no evidence of different log[NFL] concentrations and survival in genetic ALS. Conclusions and Relevance This study confirms the role of NFL as a biomarker in ALS. Elevation in NFL levels in patients with upper motor neuron involvement and FTD might reflect the corticospinal tract degeneration. Low NFL levels in patients with lower motor neuron signs might be a prognostic indicator of milder phenotypes of disease.
Muscle & Nerve | 2015
Lorenza Magliano; Melania Patalano; Alessandra Sagliocchi; Marianna Scutifero; Antonella Zaccaro; Maria Grazia D'Angelo; Federica Civati; Erika Brighina; Giuseppe Vita; Gian Luca Vita; Sonia Messina; Maria Sframeli; Marika Pane; Maria Elena Lombardo; Roberta Scalise; Adele D'Amico; Giulia Colia; Michela Catteruccia; Umberto Balottin; Angela Berardinelli; Maria Chiara Motta; Corrado Angelini; Alessandra Gaiani; Claudio Semplicini; Luca Bello; Roberta Battini; Guja Astrea; Luisa Politano
Introduction: This study explores burden and social and professional support in families of young patients with muscular dystrophies (MDs) in Italy. Methods: The study was carried out on 502 key relatives of 4‐ to 25‐year‐old patients suffering from Duchenne, Becker, or Limb‐Girdle MD who were living with at least 1 adult relative. Results: A total of 77.1% of relatives reported feelings of loss, 74.0% had feelings of sadness, and 59.1% had constraints in leisure activities. Burden was higher among relatives of patients with higher disability and who spent more daily hours in caregiving. Practical difficulties were higher among relatives who perceived lower help in patient emergencies and less practical support by their social network. Psychological burden was higher in those relatives who were unemployed, those with poorer support in emergencies, and those with lower social contacts. Conclusions: Caring for patients with MDs may be demanding for relatives even in the early stages of these disorders, especially when social support is poor and the patients disability increases. Muscle Nerve 52: 13–21, 2015
Neurobiology of Aging | 2014
Cinzia Bertolin; Giorgia Querin; Alessandra Gaiani; Francesca Boaretto; Cecilia Salvoro; Giovanni Vazza; Corrado Angelini; Annachiara Cagnin; Elena Pegoraro; Gianni Sorarù; Maria Luisa Mostacciuolo
Amyotrophic lateral sclerosis (ALS) is as an adult-onset neurodegenerative disorder involving both upper and lower motor neurons. About 5% of all cases exhibit signs of frontotemporal degeneration (FTD). We established the mutation frequency of C9ORF72, SOD1, TARDBP, and FUS genes in 307 patients with sporadic ALS, 46 patients with familial ALS (FALS), and 73 patients affected with FTD, all originating from the northeastern part of Italy. C9ORF72 pathogenic expansion was found on 22% of familial ALS, 5% of sporadic ALS, and 14% of FTD patients, resulting the most frequently genetic determinant in our cohort. Sequence analysis of ALS cohort identified 2 novel variants on SOD1 (p.Glu41Gly) and FUS (p.Gly496Glyfs*31). Interestingly, the single base deletion on FUS was observed in an homozygous state, suggesting a recessive pattern of inheritance. No point mutations were identified on FTD cohort. Although useful to direct genetic testing, this study results expand the current knowledge of ALS genetics.
Neurological Sciences | 2017
Alessandra Gaiani; Sara Pompanin; Renato Zambello; Chiara Briani; Annachiara Cagnin
Impairment of consciousness is frequently observed in Multiple Myeloma (MM), often related to hypercalcemia and hyperviscosity. Hyperammonemic encephalopathy with normal liver function and urea metabolism has been previously reported as a rare manifestation of MM in its advanced stages [1]. We present a case of a 77 year-old woman who came to our attention for rapid cognitive impairment with somnolence, motor slowness and postural instability. At neurological examination she had deficits of attention and time orientation, slow rate of speech with agrammatism, halted speech and echolalia. Her gait was characterized by small shuffling steps, decreased arm swing and marked instability with retropulsion. Past medical history was positive for arterial hypertension and mild cognitive impairment with memory loss and speech difficulties. In the first days after admission, the drowsiness worsened and she became somnolent and unresponsive to verbal stimulus until she became comatose. Laboratory findings showed mild pancytopenia, monoclonal gammopathy with increased serum level of IgG (24.3 g/L: n.v. 7–16), free light chains kappa (1700 mg/L: n.v. 4.5–22.3) and kappa/lambda ratio (1232: n.v. 0.15–3.3). Blood levels of sodium, calcium and glucose were normal, as well as TSH, vitamin B12, folate and liver function tests. Anti-neuronal antibodies were negative. Blood test was negative for benzodiazepine ingestion. Cerebrospinal fluid analysis was unremarkable. Brain MRI scan with gadolinium was negative. EEG showed diffuse slowing of rhythms, with bilateral periodic triphasic waves, consistent with metabolic encephalopathy (Fig. 1a). Despite normal liver functions and urea metabolism, blood ammonia level was 68 lmol/L (n.v. 11–35) and a diagnosis of hyperammonemic encephalopathy in possible MM was made. A bone marrow biopsy confirmed the suspicion of MM. After a brief course of intravenous dexamethasone (20 mg i.v. for 9 days), the patient showed improvement of vigilance, motor performance and EEG pattern, along with normalization of serum ammonia levels within 4 days (Fig. 1b). She, therefore, underwent combination therapy with bortezomib-dexamethasone with stabilization of hematologic parameters and persistently normal serum ammonia levels. At the 3–6–9 months follow-up visits, neurological examination was normal, the patient was independent in her daily activities and the neuropsychological assessments confirmed a mild cognitive decline (MMSE 22/30), comparable to the premorbid state. She presented with anterograde amnesia related to the events occurred during the hospitalization and 1 week afterward. This is the third case in literature of hyperammonemic encephalopathy as presenting feature of MM. Encephalopathy occurs rarely and usually in the advanced stage of MM, while in our patient it was the presenting condition of the disease [2]. A review of the literature on MM-induced hyperammonemic encephalopathy reported & Annachiara Cagnin [email protected]
Journal of Translational Medicine | 2015
Letizia Mazzini; Maurizio Gelati; Daniela Celeste Profico; Giada Sgaravizzi; Massimo Projetti Pensi; Gianmarco Muzi; Claudia Ricciolini; Laura Rota Nodari; Sandro Carletti; Cesare Giorgi; Cristina Spera; Frondizi Domenico; Enrica Bersano; Francesco Petruzzelli; Carlo Cisari; Annamaria Maglione; Maria Francesca Sarnelli; Alessandro Stecco; Giorgia Querin; Stefano Masiero; Roberto Cantello; Daniela Ferrari; Cristina Zalfa; Elena Binda; Alberto Visioli; Domenico Trombetta; Antonio Novelli; Barbara Torres; Laura Bernardini; Alessandro Carriero
Journal of Neurology | 2014
Lorenza Magliano; Melania Patalano; Alessandra Sagliocchi; Marianna Scutifero; Antonella Zaccaro; Maria Grazia D’Angelo; Federica Civati; Erika Brighina; Giuseppe Vita; Gian Luca Vita; Sonia Messina; Maria Sframeli; Marika Pane; Maria Elena Lombardo; Roberta Scalise; Adele D’Amico; Giulia Colia; Michela Catteruccia; Umberto Balottin; Angela Berardinelli; Maria Chiara Motta; Corrado Angelini; Alessandra Gaiani; Claudio Semplicini; Luca Bello; Roberta Battini; Guja Astrea; Giulia Ricci; Luisa Politano
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases | 2014
Lorenza Magliano; Maria Grazia D'Angelo; Giuseppe Vita; Marika Pane; Adele D'Amico; Umberto Balottin; Corrado Angelini; Roberta Battini; Luisa Politano; Melania Patalano; Alessandra Sagliocchi; Federica Civati; Erika Brighina; Gian Luca Vita; Sonia Messina; Maria Sframeli; Maria Elena Lombardo; Roberta Scalise; Giulia Colia; Maria Catteruccia; Angela Berardinelli; Maria Chiara Motta; Alessandra Gaiani; Claudio Semplicini; Luca Bello; Guja Astrea; Antonella Zaccaro; Marianna Scutifero
Neuromuscular Disorders | 2013
Lucia Morandi; Emanuela Abiusi; Maria Barbara Pasanisi; Rosa Lomastro; Stefania Fiori; L. Di Pietro; C. Angelini; Gianni Sorarù; Alessandra Gaiani; Tiziana Mongini; Liliana Vercelli; Gessica Vasco; Giuseppe Vita; Gianluca Vita; Sonia Messina; L. Politano; Luigia Passamano; G. Di Gregorio; Francesco Danilo Tiziano