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Hearing Disorders: HELP
Articles by Piero Barboni
Based on 3 articles published since 2010
(Why 3 articles?)
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Between 2010 and 2020, Piero Barboni wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. 2014

Carossa, Valeria / Ghelli, Anna / Tropeano, Concetta Valentina / Valentino, Maria Lucia / Iommarini, Luisa / Maresca, Alessandra / Caporali, Leonardo / La Morgia, Chiara / Liguori, Rocco / Barboni, Piero / Carbonelli, Michele / Rizzo, Giovanni / Tonon, Caterina / Lodi, Raffaele / Martinuzzi, Andrea / De Nardo, Vera / Rugolo, Michela / Ferretti, Luca / Gandini, Francesca / Pala, Maria / Achilli, Alessandro / Olivieri, Anna / Torroni, Antonio / Carelli, Valerio. ·Dipartimento di Biologia e Biotecnologie "L. Spallanzani", Università di Pavia, Pavia, Italy. ·Hum Mutat · Pubmed #24863938.

ABSTRACT: A novel heteroplasmic mitochondrial DNA (mtDNA) microdeletion affecting the cytochrome b gene (MT-CYB) was identified in an Italian female patient with a multisystem disease characterized by sensorineural deafness, cataracts, retinal pigmentary dystrophy, dysphagia, postural and gait instability, and myopathy with prominent exercise intolerance. The deletion is 18-base pair long and encompasses nucleotide positions 15,649-15,666, causing the loss of six amino acids (Ile-Leu-Ala-Met-Ile-Pro) in the protein, but leaving the remaining of the MT-CYB sequence in frame. The defective complex III function was cotransferred with mutant mtDNA in cybrids, thus unequivocally establishing its pathogenic role. Maternal relatives failed to show detectable levels of the deletion in blood and urinary epithelium, suggesting a de novo mutational event. This is the second report of an in-frame intragenic deletion in MT-CYB, which most likely occurred in early stages of embryonic development, associated with a severe multisystem disorder with prominent exercise intolerance.

2 Article Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. 2014

Moghadam, Keivan Kaveh / Pizza, Fabio / La Morgia, Chiara / Franceschini, Christian / Tonon, Caterina / Lodi, Raffaele / Barboni, Piero / Seri, Marco / Ferrari, Simona / Liguori, Rocco / Donadio, Vincenzo / Parchi, Piero / Cornelio, Ferdinando / Inzitari, Domenico / Mignarri, Andrea / Capocchi, Giuseppe / Dotti, Maria Teresa / Winkelmann, Juliane / Lin, Ling / Mignot, Emmanuel / Carelli, Valerio / Plazzi, Giuseppe. ·1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy. · 1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy. · 3 Department of Clinical and Experimental Medicine, University of Parma, Parma, Italy. · 4 MR Functional Unit, DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy. · 5 Studio Oculistico d'Azeglio, Bologna, Italy 6 Istituto Scientifico San Raffaele, Milano, Italy. · 7 Medical Genetics Unit, Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum, University of Bologna, Bologna, Italy. · 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy. · 8 Fondazione IRCCS Istituto Nazionale Neurologico Carlo Besta, Milan, Italy. · 9 NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy. · 10 Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. · 11 Department of Neuroscience, Santa Maria Hospital, Terni, Italy. · 12 Institute of Human Genetics and Department of Neurology, Technische Universitat Munchen, Munich, Germany13 Centre for Sleep Sciences and Medicine, Department of Psychiatry and Department of Genetics, Stanford University School of Medicine, Palo Alto, CA, USA. · 13 Centre for Sleep Sciences and Medicine, Department of Psychiatry and Department of Genetics, Stanford University School of Medicine, Palo Alto, CA, USA. · 1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy giuseppe.plazzi@unibo.it. ·Brain · Pubmed #24727570.

ABSTRACT: We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). Patients underwent genetic analysis of DNMT1 gene, neurophysiological tests investigating sleep, auditory functions and peripheral nervous system, ophthalmological studies including optical coherence tomography, lymphoscintigraphy, brain magnetic resonance and nuclear imaging, cerebrospinal fluid hypocretin-1, total tau, phosphorylated tau, amyloid-β1-42 and 14-3-3 proteins measurement, skin, muscular and sural nerve biopsies. Exome and direct sequencing studies disclosed two different point mutations affecting exon 21 of DNMT1 gene in patients with ADCA-DN, a novel heterozygous point mutation in exon 20 in two affected HSAN IE siblings, and a trinucleotide deletion in exon 20 in the latter patient with HSAN IE. Phenotypic characterization pinpoints that ADCA-DN and HSAN IE represent two discrete clinical entities belonging to the same disease spectrum, with variable degree of overlap. Remarkably, narcolepsy with or without cataplexy with low/intermediate or normal cerebrospinal fluid hypocretin-1 is present in both diseases. The human leukocyte antigen DQB1*06:02 was absent in all patients. Other common symptoms and features observed in our cases, involving the central and peripheral nervous system, include deafness, optic neuropathy-previously not reported in HSAN IE-large and small fibres polyneuropathy and lower limbs oedema. Overall, the two syndromes share more characteristics than previously recognized and narcolepsy is common to both. HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy.

3 Article Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. 2014

Moghadam, Keivan Kaveh / Pizza, Fabio / Tonon, Caterina / Lodi, Raffaele / Carelli, Valerio / Poli, Francesca / Franceschini, Christian / Barboni, Piero / Seri, Marco / Ferrari, Simona / La Morgia, Chiara / Testa, Claudia / Cornelio, Ferdinando / Liguori, Rocco / Winkelmann, Juliane / Lin, Ling / Mignot, Emmanuel / Plazzi, Giuseppe. ·DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy. · DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. · Functional MR Unit, DIBINEM Alma Mater Studiorum, University of Bologna, Bologna, Italy. · Department of Clinical and Experimental Medicine, University of Parma, Parma, Italy. · Studio Oculistico d'Azeglio, Bologna, Italy. · Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, DIMEC Alma Mater Studiorum, University of Bologna, Bologna, Italy. · IRCCS, Istituto Nazionale Neurologico C. Besta, Milan, Italy. · Institute of Human Genetics and Department of Neurology, Technische Universitat Munchen, Munich, Germany; Center for Sleep Sciences and Medicine, Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA, USA. · Center for Sleep Sciences and Medicine, Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA, USA. · DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Electronic address: giuseppe.plazzi@unibo.it. ·Sleep Med · Pubmed #24709307.

ABSTRACT: OBJECTIVE: We aimed to report the clinical picture of two asymptomatic daughters of a patient with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. METHODS: Clinical assessment based on history, neurologic examination, sleep recordings, neurophysiologic neuroimaging, and genetic tests was performed. RESULTS: History and neurologic examination in both subjects were unremarkable. Genetic analysis disclosed in both the paternally-inherited heterozygous point mutation in the DNMT1 gene. Sleep recordings found sleep-onset rapid eye movement periods (SOREMPs) and proton magnetic resonance spectroscopy (MRS) revealed increased cerebellar myoinositol (mI) in both subjects. Auditory and ophthalmologic investigations as well as structural brain magnetic resonance imaging (MRI) scans revealed no abnormalities. CONCLUSIONS: The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases. Therefore, SOREMPs may precede the clinical picture of ADCA-DN as an early polysomnographic marker of central nervous system involvement detected by MRS.