Davide Pareyson

Summary

Affiliation: Istituto Nazionale Neurologico Carlo Besta
Country: Italy

Publications

  1. ncbi request reprint Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes
    D Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    Curr Mol Med . 2014
  2. doi request reprint Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    J Mol Neurosci 58:394-400. 2016
  3. doi request reprint Mitochondrial dynamics and inherited peripheral nerve diseases
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, C Besta Neurological Institute, Milan, Italy Electronic address
    Neurosci Lett 596:66-77. 2015
  4. doi request reprint Peripheral neuropathy in mitochondrial disorders
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Milan, Italy Electronic address
    Lancet Neurol 12:1011-24. 2013
  5. doi request reprint Dominant Charcot-Marie-Tooth syndrome and cognate disorders
    Davide Pareyson
    Clinics of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy Electronic address
    Handb Clin Neurol 115:817-45. 2013
  6. doi request reprint Clinical neurogenetics: recent advances
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    J Neurol 259:2255-60. 2012
  7. pmc Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy
    Lancet Neurol 10:320-8. 2011
  8. doi request reprint Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A
    Isabella Moroni
    Division of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy
    Neuromuscul Disord 19:476-80. 2009
  9. pmc SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
    Lorenzo Nanetti
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Orphanet J Rare Dis 8:123. 2013
  10. doi request reprint Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy
    Patrizia Dacci
    Neuromuscular Diseases Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Via Celoria, 11, 20133 Milan, Italy
    J Peripher Nerv Syst 17:422-5. 2012

Collaborators

Detail Information

Publications42

  1. ncbi request reprint Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes
    D Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    Curr Mol Med . 2014
    ..In this review we will discuss the function and related phenotypes of all the genes thus far associated with CMT, dHMN, and HSAN...
  2. doi request reprint Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    J Mol Neurosci 58:394-400. 2016
    ..We also aim at developing harmonized and coordinated biorepositories. The experience obtained during the last years in the field of other neuromuscular disorders and of Huntington disease offers valuable precedents. ..
  3. doi request reprint Mitochondrial dynamics and inherited peripheral nerve diseases
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences IRCCS Foundation, C Besta Neurological Institute, Milan, Italy Electronic address
    Neurosci Lett 596:66-77. 2015
    ..In this review, we address the abnormalities in mitochondrial dynamics and their role in determining CMT disease and related neuropathies. ..
  4. doi request reprint Peripheral neuropathy in mitochondrial disorders
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Milan, Italy Electronic address
    Lancet Neurol 12:1011-24. 2013
    ..Recognising and diagnosing an underlying mitochondrial defect in patients presenting with peripheral neuropathy is therefore of paramount importance. ..
  5. doi request reprint Dominant Charcot-Marie-Tooth syndrome and cognate disorders
    Davide Pareyson
    Clinics of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy Electronic address
    Handb Clin Neurol 115:817-45. 2013
    ..The first trials with ascorbic acid in CMT type 1A have been completed and, although negative, are providing relevant information on disease course and on how to prepare for future trials. ..
  6. doi request reprint Clinical neurogenetics: recent advances
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    J Neurol 259:2255-60. 2012
    ..In this review, progress in clinical neurogenetics research published in the Journal of Neurology during the past year is summarized...
  7. pmc Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
    Davide Pareyson
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy
    Lancet Neurol 10:320-8. 2011
    ..However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A...
  8. doi request reprint Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A
    Isabella Moroni
    Division of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy
    Neuromuscul Disord 19:476-80. 2009
    ..Gln122Lys, p.Arg125stop, p.Val219Asp, p.Asn297Lys) and one previously reported mutation (p.Leu239Phe) were identified in GDAP1 gene. GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal CMT...
  9. pmc SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
    Lorenzo Nanetti
    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    Orphanet J Rare Dis 8:123. 2013
    ....
  10. doi request reprint Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy
    Patrizia Dacci
    Neuromuscular Diseases Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Via Celoria, 11, 20133 Milan, Italy
    J Peripher Nerv Syst 17:422-5. 2012
    ..Our observation suggests that MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy even presenting with rapid progression and at a very late age of onset...
  11. doi request reprint Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu
    Ettore Salsano
    IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    J Neurol Sci 302:85-8. 2011
    ....
  12. doi request reprint Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP
    Eduardo Nobile-Orazio
    2nd Neurology, Department of Medical Biotechnology and Translational Medicine, Milan University, Humanitas Clinical and Research Center, Milan, Italy
    J Neurol Neurosurg Psychiatry 86:729-34. 2015
    ..We now retrospectively compared the proportion of patients who eventually worsened after discontinuing therapy and the median time to clinical worsening...
  13. doi request reprint Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
    Ettore Salsano
    Unit of Neurology VIII, Fondazione IRCCS Istituto Neurologico C Besta, Via Celoria 11, 20133, Milan, Italy
    J Neurol 260:1617-23. 2013
    ....
  14. ncbi request reprint A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]
    Davide Pareyson
    Department of Biochemistry and Genetics, C Besta National Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    Pharmacol Res 54:436-41. 2006
    ..In consenting patients from three centers, skin biopsy is performed to evaluate PMP22 expression. The study will last 34 months, starting from March 2006...
  15. doi request reprint A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom
    Giuseppe Piscosquito
    Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst . 2016
    ..739delC; p.His247ThrfsTer74). The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT...
  16. doi request reprint Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)
    Giuseppe Piscosquito
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst 21:142-9. 2016
    ..In our series of undiagnosed CMT4 patients, SH3TC2 mutation frequency is 30%, confirming that CMT4C may be the most common AR-CMT type. ..
  17. doi request reprint X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation
    Anna Sagnelli
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst 19:183-6. 2014
    ..Only a few years later did symptoms of peripheral neuropathy appear. In conclusion, CMTX1 should be included in the differential diagnosis of diseases characterized by transient CNS symptoms and white matter abnormalities on MRI...
  18. doi request reprint Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
    Viviana Pensato
    1 Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS Fondazione Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    Brain 137:1907-20. 2014
    ..The observation of common clinical features in association with defects in different causative genes, suggest a general vulnerability of the corticospinal tract axons to a wide spectrum of cellular alterations. ..
  19. doi request reprint Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene
    Chiara Marchesi
    Unit of Clinic of Central and Peripheral Degenerative Neuropathies, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Neuromuscul Disord 21:129-31. 2011
    ..Clinical features, EMG findings, and fast progression were consistent with ALS superimposed on CMT...
  20. doi request reprint Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation
    Laura Canafoglia
    Neurophysiopathology and Epilepsy Center, IRCCS Foundation C Besta Neurological Institute, Milan, Italy
    Epilepsia 55:e56-9. 2014
    ..These findings define a novel phenotype and provide clues for better understanding of progranulin function. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here. ..
  21. doi request reprint Hereditary predominantly motor neuropathies
    Davide Pareyson
    Unit of Neurology VIII, Clinics of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Curr Opin Neurol 22:451-9. 2009
    ..We review recent advances in Charcot-Marie-Tooth disease (CMT), the most frequent inherited neuromuscular disorder...
  22. doi request reprint Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations
    Giuseppe Piscosquito
    Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst 20:380-6. 2015
    ....
  23. doi request reprint Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient
    Anna Sagnelli
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Neuromuscul Disord 25:800-1. 2015
    ..The combination of two diseases, even if extremely rare, should be considered in the presence of atypical symptoms; in the case of genetic diseases this event may have important implications on family members' counseling. ..
  24. doi request reprint Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy
    Giuseppe Piscosquito
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst 18:185-8. 2013
    ..Interestingly, there are reports of possible superimposition of dysimmune neuropathies on hereditary ones, and the influence of the immune system on inherited neuropathies is matter for debate...
  25. pmc Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study
    Maurizio Ferrarin
    Biomedical Technology Department, Don Carlo Gnocchi Foundation Onlus IRCCS, Milan, Italy
    J Neuroeng Rehabil 10:65. 2013
    ..Goal of the present study was to perform a follow-up evaluation of the same group of patients to analyze possible changes of gait features in relation to disease progression or specific therapy...
  26. pmc Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
    Ettore Salsano
    Department of Medicine, Surgery and Dentistry, Universita degli Studi di Milano, Milan, Italy
    Orphanet J Rare Dis 7:10. 2012
    ....
  27. doi request reprint Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy
    Anna Sagnelli
    Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst . 2016
    ..The majority of HGA patients comes from Finland, although several cases have been reported from other countries. HGA should be considered in the differential diagnosis of progressive or recurrent bilateral facial neuropathy...
  28. pmc The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease
    Tiziana Lencioni
    Biomedical Technology Department, IRCCS Foundation Don Gnocchi Onlus, Milan, Italy Electronic address
    Neuromuscul Disord 25:640-5. 2015
    ..An accurate evaluation of residual sensory and muscular functions is therefore necessary to plan for the appropriate balance rehabilitation treatment for each patient, besides the CMT type. ..
  29. pmc Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy
    Marta Dossena
    Cellular Neurobiology Laboratory, Unit of Cerebrovascular Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    PLoS ONE 9:e112746. 2014
    ....
  30. doi request reprint Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation
    Ettore Salsano
    IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy
    J Neurol Sci 300:165-8. 2011
    ..Finally, our case suggests that common neuroleptic and antidepressant drugs may be clinically efficacious in the management of psychiatric symptoms associated with MIDs...
  31. doi request reprint Natural history and treatment of peripheral inherited neuropathies
    Davide Pareyson
    IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    Adv Exp Med Biol 652:207-24. 2009
    ..Curcumin stimulates translocation of misfolded protein from the endoplasmic reticulum and proved useful for selected myelin protein zero and PMP22 mutants in vitro and in the animal models Trembler and TremblerJ...
  32. doi request reprint Inherited neuropathies: an update
    Anna Sagnelli
    Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    J Neurol 260:2684-90. 2013
    ..In this review, progress in hereditary neuropathy research published in the Journal of Neurology over the last 18 months is summarised...
  33. doi request reprint Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
    Barbara Castellotti
    SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, via Celoria11, 20133 Milan, Italy
    Neurogenetics 12:193-201. 2011
    ..Our survey describes one of the largest series of AOA1 patients and contributes in defining clinical, molecular, and biochemical characteristics of this rare hereditary neurological condition...
  34. doi request reprint Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature
    Davide Pareyson
    Biochemistry and Genetics Unit, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Brain 131:2321-31. 2008
    ..AOAD is more common than previously thought and might even be the most common form of AD. The diagnosis is strongly suggested by MRI and confirmed by GFAP gene analysis...
  35. pmc Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children
    Emanuela Pagliano
    Developmental Neurology Division, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    J Peripher Nerv Syst 16:237-42. 2011
    ..Overall, these scales demonstrated limited potential to measure disability and severity of the disease confirming that it is necessary to identify specific scales for children with CMT...
  36. doi request reprint Vertical supranuclear gaze palsy in Niemann-Pick type C disease
    Ettore Salsano
    Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milano, Italy
    Neurol Sci 33:1225-32. 2012
    ..This dissociation is caused by a selective vulnerability of the neurons in the rostral interstitial nuclei of the medial longitudinal fasciculus (riMLF) in NP-C. Here we discuss VSGP in NP-C and how clinicians can best elicit this sign...
  37. doi request reprint Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
    Davide Pareyson
    Unit of Neurology VIII Clinics of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, 20133 Milan, Italy
    Lancet Neurol 8:654-67. 2009
    ..Progesterone antagonists, neurotrophic factors, ascorbic acid, and curcumin have shown promising results in experimental models, and ascorbic acid is being studied in large randomised controlled trials...
  38. doi request reprint Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial
    Eduardo Nobile-Orazio
    Department of Translational Medicine, Milan University, 2nd Neurology, IRCCS Humanitas Clinical Institute, Rozzano, Milan, Italy
    Lancet Neurol 11:493-502. 2012
    ..We compared the efficacy and tolerability of 6-month therapy with IVIg versus that with intravenous methylprednisolone...
  39. pmc An autoinflammatory neurological disease due to interleukin 6 hypersecretion
    Ettore Salsano
    UO Neurologia VIII, Department of Clinical Neurosciences, IRCCS Foundation, C, Besta Neurological Institute, Milan 20133, Italy
    J Neuroinflammation 10:29. 2013
    ..We propose that the disease described in this patient might be a prototype of a novel category of autoinflammatory diseases characterized by prominent neurological involvement...
  40. ncbi request reprint Tonic pupil following the use of dermatoscope
    Ettore Salsano
    Division of Biochemistry and Genetics, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy
    Acta Neurol Taiwan 18:148-50. 2009
    ..We hypothesize that frequent, repetitive exposures of one eye to intense light might fatigue the pupillary reflex and trigger the appearance of a tonic pupil...
  41. doi request reprint The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome
    Giacomina Rossi
    Division of Neuropathology, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
    Mov Disord 23:892-5. 2008
    ..In conclusion, the MAPT G389R mutation shows phenotypic variability resulting in both FTD and CBS. The mutation also demonstrates incomplete penetrance. Corticospinal tract degeneration is an exceptional finding...
  42. pmc Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain
    Matilde Laura
    UO Biochimica e Genetica, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    J Neurol Neurosurg Psychiatry 78:1263-6. 2007
    ..The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated...