Andoni Echaniz-Laguna

Summary

Country: France

Publications

  1. ncbi request reprint Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
    Andoni Echaniz-Laguna
    From the Département de Neurologie A E L, Hopitaux Universitaires, Strasbourg Centre de Référence Maladies Neuromusculaires Paris Est O D, P L, B E, T S, APHP, Institut de Myologie, Paris Département de Radiologie P C, Hopital de la Pitie Salpetriere, Paris APHP R Y C, HU PIFO, Service d Imagerie Medicale, CIC IT Handicap, hôpital Poincaré, Garches Département de Pédiatrie P S, CHU de Reims Centre de Référence Maladies Neuromusculaires Nantes Angers Y P, CHU de Nantes Département de Neurologie F C, CHU de Caen EA 4271 GAD C T R, IFR Santé STIC, Universite de Bourgogne, Dijon Centre de Référence Anomalies de Développement et Syndromes Malformatifs C T R, CHU, Dijon Centre de Biologie et de Pathologie Est P L, Hospices Civils de Lyon, Bron, France
    Neurology 82:1919-26. 2014
  2. ncbi request reprint Adult centronuclear myopathies: A hospital-based study
    A Echaniz-Laguna
    Departement de Neurologie, Hopital de Hautepierre, Hopitaux Universitaires, 1, Avenue Moliere, 67098 Strasbourg, France Inserm U692, Faculte de Medecine, Universite de Strasbourg, 8 e étage, Bâtiment 3, 11, rue Humann, 67085 Strasbourg Cedex, France Electronic address
    Rev Neurol (Paris) 169:625-31. 2013
  3. doi request reprint Mitochondrial myopathy caused by arsenic trioxide therapy
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, 1 Avenue Moliere, Strasbourg Cedex, France
    Blood 119:4272-4. 2012
  4. ncbi request reprint Chronic inflammatory demyelinating polyradiculoneuropathy in solid organ transplant recipients: a prospective study
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires, Strasbourg, France
    J Neurol Neurosurg Psychiatry 83:699-705. 2012
  5. doi request reprint Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires, Strasbourg Cedex, France
    J Med Genet 49:146-50. 2012
  6. ncbi request reprint POLG1 variations presenting as multiple sclerosis
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil, 67091 Strasbourg, France
    Arch Neurol 67:1140-3. 2010
  7. doi request reprint Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study
    Jean Baptiste Chanson
    Department de Neurologie, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, 1 Avenue Moliere, Strasbourg 67000, France
    J Neurol Neurosurg Psychiatry 84:392-7. 2013
  8. pmc SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
    Andoni Echaniz-Laguna
    From the Département de Neurologie A E L, Hopitaux Universitaires, Strasbourg INSERM U692 A E L, Universite de Strasbourg, France Unit of Molecular Neurogenetics D G, L M, M Z, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy Service des Maladies Héréditaires du Métabolisme M C, M M, S P, B M deC, Centre de Biotechnologie Cellulaire I R, Unité de Cardiogénétique Moléculaire D B, and Service de Neurobiologie P L, Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France and Département d Anatomopathologie B L, Hopitaux Universitaires, Strasbourg, France
    Neurology 81:1523-30. 2013
  9. doi request reprint Oxidative stress in skeletal muscle stimulates early expression of Rad in a mouse model of amyotrophic lateral sclerosis
    Benoit Halter
    Universite de Strasbourg, France
    Free Radic Biol Med 48:915-23. 2010
  10. ncbi request reprint A study of three patients with amyotrophic lateral sclerosis and a polyneuropathy resembling CIDP
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Muscle Nerve 33:356-62. 2006

Detail Information

Publications30

  1. ncbi request reprint Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
    Andoni Echaniz-Laguna
    From the Département de Neurologie A E L, Hopitaux Universitaires, Strasbourg Centre de Référence Maladies Neuromusculaires Paris Est O D, P L, B E, T S, APHP, Institut de Myologie, Paris Département de Radiologie P C, Hopital de la Pitie Salpetriere, Paris APHP R Y C, HU PIFO, Service d Imagerie Medicale, CIC IT Handicap, hôpital Poincaré, Garches Département de Pédiatrie P S, CHU de Reims Centre de Référence Maladies Neuromusculaires Nantes Angers Y P, CHU de Nantes Département de Neurologie F C, CHU de Caen EA 4271 GAD C T R, IFR Santé STIC, Universite de Bourgogne, Dijon Centre de Référence Anomalies de Développement et Syndromes Malformatifs C T R, CHU, Dijon Centre de Biologie et de Pathologie Est P L, Hospices Civils de Lyon, Bron, France
    Neurology 82:1919-26. 2014
    ..To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies...
  2. ncbi request reprint Adult centronuclear myopathies: A hospital-based study
    A Echaniz-Laguna
    Departement de Neurologie, Hopital de Hautepierre, Hopitaux Universitaires, 1, Avenue Moliere, 67098 Strasbourg, France Inserm U692, Faculte de Medecine, Universite de Strasbourg, 8 e étage, Bâtiment 3, 11, rue Humann, 67085 Strasbourg Cedex, France Electronic address
    Rev Neurol (Paris) 169:625-31. 2013
    ..Three CNM-causing genes have been identified, with MTM1 mutations provoking X-linked myotubular myopathy, DNM2 mutations provoking autosomal dominant (AD) CNM, and BIN1 mutations provoking autosomal recessive (AR) CNM...
  3. doi request reprint Mitochondrial myopathy caused by arsenic trioxide therapy
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, 1 Avenue Moliere, Strasbourg Cedex, France
    Blood 119:4272-4. 2012
    ..ATO therapy may provoke a delayed, severe, and partially reversible mitochondrial myopathy, and a long-term careful surveillance for muscle disease should be instituted when ATO is used in patients with APL...
  4. ncbi request reprint Chronic inflammatory demyelinating polyradiculoneuropathy in solid organ transplant recipients: a prospective study
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires, Strasbourg, France
    J Neurol Neurosurg Psychiatry 83:699-705. 2012
    ..The prevalence and outcome of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients with solid organ transplantation is unknown, and there are no guidelines for the evaluation and treatment of such patients...
  5. doi request reprint Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires, Strasbourg Cedex, France
    J Med Genet 49:146-50. 2012
    ..The ANT1 gene, encoding ADP/ATP translocase 1, was investigated in an adult patient with an autosomal recessive mitochondrial disorder characterised by congenital cataracts, hypertrophic cardiomyopathy, myopathy and lactic acidosis...
  6. ncbi request reprint POLG1 variations presenting as multiple sclerosis
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil, 67091 Strasbourg, France
    Arch Neurol 67:1140-3. 2010
    ..To describe 2 unrelated patients with novel variations in the POLG1 gene and features undistinguishable from multiple sclerosis, ie, optic neuritis, brain white matter hyperintense areas, and unmatched cerebrospinal fluid oligoclonal bands...
  7. doi request reprint Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study
    Jean Baptiste Chanson
    Department de Neurologie, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, 1 Avenue Moliere, Strasbourg 67000, France
    J Neurol Neurosurg Psychiatry 84:392-7. 2013
    ..Although mainly expressed in the PNS, PMP22 mRNA and protein are also present in the central nervous system (CNS)...
  8. pmc SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
    Andoni Echaniz-Laguna
    From the Département de Neurologie A E L, Hopitaux Universitaires, Strasbourg INSERM U692 A E L, Universite de Strasbourg, France Unit of Molecular Neurogenetics D G, L M, M Z, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy Service des Maladies Héréditaires du Métabolisme M C, M M, S P, B M deC, Centre de Biotechnologie Cellulaire I R, Unité de Cardiogénétique Moléculaire D B, and Service de Neurobiologie P L, Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France and Département d Anatomopathologie B L, Hopitaux Universitaires, Strasbourg, France
    Neurology 81:1523-30. 2013
    ..To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease...
  9. doi request reprint Oxidative stress in skeletal muscle stimulates early expression of Rad in a mouse model of amyotrophic lateral sclerosis
    Benoit Halter
    Universite de Strasbourg, France
    Free Radic Biol Med 48:915-23. 2010
    ..Our study provides strong evidence for the implication of oxidative stress in modulating Rad expression, in association with the initiation and progression of ALS muscle atrophy...
  10. ncbi request reprint A study of three patients with amyotrophic lateral sclerosis and a polyneuropathy resembling CIDP
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Muscle Nerve 33:356-62. 2006
    ..This unusual combination may provide an important clue in elucidating the pathogenesis of ALS in some patients...
  11. ncbi request reprint Muscle Nogo-A expression is a prognostic marker in lower motor neuron syndromes
    Pierre Francois Pradat
    Fédération des Maladies du Système Nerveux, Centre référent maladie rare SLA, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, 75651 Paris, France
    Ann Neurol 62:15-20. 2007
    ..Muscle expression of Nogo-A is a new candidate marker of ALS. We tested whether detection of Nogo-A in a muscle biopsy from patients with LMNS predicts progression to ALS...
  12. doi request reprint Muscle phosphorylase b kinase deficiency revisited
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil, BP426, 67091 Strasbourg, France
    Neuromuscul Disord 20:125-7. 2010
    ..This report supports the concept that PHK deficiency is a mild metabolic myopathy and suggests that PHK mutations may interfere with normal brain function...
  13. doi request reprint Myopathies in the elderly: a hospital-based study
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil, BP 426, 67091 Strasbourg, France
    Neuromuscul Disord 20:443-7. 2010
    ..Clinicians should be aware of the existence of geriatric myopathies, an emerging entity with important implications for management, treatment, and genetic counseling...
  14. ncbi request reprint TDP43-positive intraneuronal inclusions in a patient with motor neuron disease and Parkinson's disease
    Jean Baptiste Chanson
    Department of Neurology, Strasbourg University Hospital, Strasbourg, France
    Neurodegener Dis 7:260-4. 2010
    ..The role of the 43-kDa transactivation-responsive DNA-binding protein (TDP43) in neurodegenerative diseases is not yet clearly established...
  15. ncbi request reprint Muscular mitochondrial function in amyotrophic lateral sclerosis is progressively altered as the disease develops: a temporal study in man
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Exp Neurol 198:25-30. 2006
    ..This temporal study demonstrates for the first time that mitochondrial function in SM in human SALS is progressively altered as the disease develops...
  16. ncbi request reprint Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Muscle Nerve 33:393-7. 2006
    ..One patient was successfully treated by heart transplantation with more than 5-year follow-up. This study demonstrates that Danon disease is a frequently fatal condition that is potentially treatable with heart transplantation...
  17. ncbi request reprint A novel variation in the Twinkle linker region causing late-onset dementia
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil, BP 426, 67091, Strasbourg, France
    Neurogenetics 11:21-5. 2010
    ..These observations demonstrate that Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia...
  18. ncbi request reprint Amyotrophic lateral sclerosis: all roads lead to Rome
    Jose Luis Gonzalez de Aguilar
    INSERM, U692, Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Universite Louis Pasteur, Faculte de Medecine, UMRS692, Strasbourg, France
    J Neurochem 101:1153-60. 2007
    ..Identifying different disease subtypes is an unavoidable step toward the understanding of the physiopathology of ALS and will hopefully help to design specific treatments for each subset of patients...
  19. ncbi request reprint Chronic inflammatory demyelinating polyradiculoneuropathy in patients with liver transplantation
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP 426, 67091, France
    Muscle Nerve 30:501-4. 2004
    ..In patients with OLT developing disabling sensorimotor neuropathies, CIDP should be considered as should the use of potentially beneficial immunosuppressive treatment...
  20. ncbi request reprint Mitochondrial respiratory chain function in skeletal muscle of ALS patients
    Andoni Echaniz-Laguna
    Service des Maladies du Système Nerveux et du Muscle, Clinique Neurologique, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP 426, 67091 Strasbourg, France
    Ann Neurol 52:623-7. 2002
    ..min(-1). gm(-1)dw). This study shows an absence of large mitochondrial damage in skeletal muscle of patients with early-stage SALS, suggesting that mitochondrial dysfunction in the earlier stages of SALS is almost certainly not systemic...
  21. pmc Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons
    Luc Dupuis
    INSERM, U692, Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Strasbourg, France
    PLoS ONE 4:e5390. 2009
    ..It remains unknown whether muscle abnormalities in energy metabolism are causally involved in the destruction of neuromuscular junction (NMJ) and subsequent motor neuron degeneration during ALS...
  22. ncbi request reprint Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Neuromuscul Disord 17:955-9. 2007
    ..This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied...
  23. ncbi request reprint Diffusion-weighted MRI of denervated muscle: a clinical and experimental study
    Nathalie Holl
    Service de Radiologie 2, Hopitaux Universitaires de Strasbourg, Avenue Moliere, 67098, Strasbourg, France
    Skeletal Radiol 37:1111-7. 2008
    ..The aim of this study was to investigate skeletal muscle denervation using diffusion-weighted magnetic resonance imaging (DWMRI)...
  24. ncbi request reprint NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Neuromuscul Disord 17:163-8. 2007
    ..This report extends the clinical knowledge of CMT4D and indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied...
  25. pmc Next generation sequencing for molecular diagnosis of neuromuscular diseases
    Nasim Vasli
    IGBMC Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1, rue Laurent Fries, BP10142, 67404, Illkirch, France
    Acta Neuropathol 124:273-83. 2012
    ..An earlier genetic diagnosis should provide improved disease management and higher quality genetic counseling, and ease access to therapy or inclusion into therapeutic trials...
  26. doi request reprint Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Muscle Nerve 40:55-61. 2009
    ..The findings further suggest a distal axonal localization of the generator of neuromyotonic discharges. SJS should now be considered as an inherited disorder with peripheral nerve hyperexcitability...
  27. doi request reprint Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
    Marion Yger
    APHP, Center for reference of neuromuscular diseases Paris Est, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, Paris, France
    J Peripher Nerv Syst 17:112-22. 2012
    ..The hallmark of the electrophysiological study was the presence of probable conduction block and temporal dispersion. Thus the clinical and paraclinical spectrum of CMT4C can guide the clinician to perform analysis of the SH3TC2 gene...
  28. ncbi request reprint Nogo expression in muscle correlates with amyotrophic lateral sclerosis severity
    Natasa Jokic
    Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Universite Louis Pasteur, Strasbourg, France
    Ann Neurol 57:553-6. 2005
    ..Nogo-A immunoreactivity was observed selectively in atrophic slow-twitch type I fibers. These results suggest that Nogo expression in muscle is a marker of amyotrophic lateral sclerosis severity...
  29. doi request reprint Asthma as a cause of persistent dyspnea in treated myasthenia gravis patients
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopitaux Universitaires, Strasbourg, France
    Eur Neurol 68:300-3. 2012
    ..The aim of this study was to evaluate the proportion of patients with treated myasthenia gravis (MG) who present with dyspnea not related to MG...
  30. ncbi request reprint Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates
    Vincent Laugel
    Department of Pediatrics, Strasbourg University Hospital, Strasbourg Cedex, France
    Eur J Pediatr 167:517-23. 2008
    ..These recent clinical data can be used to improve our strategy in investigating neonatal hypotonia and a diagnostic algorithm is proposed based on our findings...