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Sensory neuronopathies: investigation of new diagnostic methods, mechanisms of the disease and therapeutic strategies

Abstract

Sensory neuronopathies (SN) represent a specific subgroup of peripheral nervous system disorders characterized by selective damage to dorsal root ganglia neurons. In contrast to polyneuropathies, SN usually present with multifocal non-length-dependent sensory deficits, ataxia and normal muscle strength. In the last few years, SN have been increasingly recognized in clinical practice associated to different etiologies. Despite this, several relevant issues about clinical findings, diagnosis, pathogenesis and therapy still need to be addressed. For instance, almost half of all SN patients are still labeled as idiopathic. Non-motor manifestations and particularly dysautonomia were not properly investigated in these patients. On clinical grounds, there is still no validated scale to measure the severity of sensory ataxia. Available data on pathogenesis and therapy are scant as well. In this setting, we have designed this research project in an attempt to address these specific questions and ultimately to improve the care of these patients. We propose a multimodal approach, including clinical, neurophysiological, immunological, molecular genetics and neuroimaging analyses. For UNICAMP, this project will strongly support the establishment of a new independent research group devoted to neuromuscular diseases and peripheral neuropathies. (AU)

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Scientific publications (30)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
MARTINS, JR., CARLOS ROBERTO; MURO MARTINEZ, ALBERTO ROLIM; RIBEIRO DE REZENDE, THIAGO JUNQUEIRA; TEIXEIRA BRANCO, LUCAS MELO; PEDROSO, JOSE LUIZ; BARSOTTINI, ORLANDO G. P.; LOPES-CENDES, ISCIA; FRANCA, JR., MARCONDES C.. Spinal Cord Damage in Spinocerebellar Ataxia Type 1. CEREBELLUM, v. 16, n. 4, p. 792-796, . (13/01766-7)
CASSEB, RAPHAEL FERNANDES; DE PAIVA, JEAN LEVI RIBEIRO; BRANCO, LUCAS MELO TEIXEIRA; MARTINEZ, ALBERTO ROLIM MURO; REIS, FABIANO; DE LIMA-JUNIOR, JOSE CARLOS; CASTELLANO, GABRIELA; FRANCA JUNIOR, MARCONDES CAVALCANTE. Spinal cord diffusion tensor imaging in patients with sensory neuronopathy. NEURORADIOLOGY, v. 58, n. 11, p. 1103-1108, . (13/07559-3, 13/01766-7)
ALBERTO R. M. MARTINEZ; CARLOS ROBERTO MARTINS JR; LUCAS N. DE RESENDE; TÂNIA A. M. O. CARDOSO; FABIANO REIS; MARCONDES C. FRANÇA JR. Síndrome de Lemierre como causa de trombose venosa cerebral. Arquivos de Neuro-Psiquiatria, v. 76, n. 5, p. 358-358, . (14/19786-7, 13/01766-7)
BRANCO, LUCAS M. T.; DE REZENDE, THIAGO J. R.; ROVERSI, CAROLINE DE O.; ZANAO, TAMIRES; CASSEB, RAPHAEL F.; DE CAMPOS, BRUNNO M.; FRANCA, JR., MARCONDES C.. Brain signature of mild stages of cognitive and behavioral impairment in amyotrophic lateral sclerosis. PSYCHIATRY RESEARCH-NEUROIMAGING, v. 272, p. 58-64, . (13/01766-7)
SANTOS, T. A.; MAISTRO, C. E. B.; SILVA, C. B.; OLIVEIRA, M. S.; FRANCA, JR., M. C.; CASTELLANO, G.. MRI Texture Analysis Reveals Bulbar Abnormalities in Friedreich Ataxia. AMERICAN JOURNAL OF NEURORADIOLOGY, v. 36, n. 12, p. 2214-2218, . (12/24363-2, 13/01766-7, 13/07559-3, 13/16273-6)
CASSEB, RAPHAEL FERNANDES; MURO MARTINEZ, ALBERTO ROLIM; RIBEIRO DE PAIVA, JEAN LEVI; FRANCA, MARCONDES CAVALCANTE. Neuroimaging in Sensory Neuronopathy. JOURNAL OF NEUROIMAGING, v. 25, n. 5, p. 704-709, . (13/01766-7)
DA GRACA, FELIPE FRANCO; RIBEIRO DE REZENDE, THIAGO JUNQUEIRA; ROCHA VASCONCELLOS, LUIZ FELIPE; PEDROSO, JOSE LUIZ; BARSOTTINI, ORLANDO GRAZIANI P.; FRANCA, JR., MARCONDES C.. Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives. FRONTIERS IN NEUROLOGY, v. 9, . (13/01766-7)
TAVARES DE ANDRADE, HELEN MAIA; CINTRA, VIVIAN PEDIGONE; DE ALBUQUERQUE, MILENA; PICCININ, CAMILA CALLEGARI; BONADIA, LUCIANA CARDOSO; DUARTE COUTEIRO, RAFAEL ESTEVES; DE OLIVEIRA, DANIEL SABINO; CLAUDINO, RINALDO; MAGNO GONCALVES, MARCOS VINICIUS; TEIXEIRA DOURADO JR, MARIO EMILIO; et al. Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients. NEUROBIOLOGY OF AGING, v. 69, . (13/01766-7)
MARTINEZ, ALBERTO R. M.; FABER, INGRID; NUCCI, ANAMARLI; APPENZELLER, SIMONE; FRANCA, JR., MARCONDES C.. Autoimmune neuropathies associated to rheumatic diseases. AUTOIMMUNITY REVIEWS, v. 16, n. 4, p. 335-342, . (13/01766-7)
SCHMITT, GABRIEL DA SILVA; MARTINEZ, ALBERTO R. M.; DA GRACA, FELIPE F.; DE LIMA, FABRICIO DINIZ; BONADIA, LUCIANA C.; AMORIM, BARBARA JUAREZ; NUCCI, ANAMARLI; FRANCA, MARCONDES CAVALCANTE, JR.. Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions. MOVEMENT DISORDERS, v. 35, n. 10, p. 2-pg., . (13/01766-7, 13/26410-0)
RIBEIRO REZENDE, THIAGO JUNQUEIRA; RIBEIRO DE PAIVA, JEAN LEVI; MURO MARTINEZ, ALBERTO ROLIM; LOPES-CENDES, ISCIA; PEDROSO, JOSE LUIZ; POVOAS BARSOTTINI, ORLANDO GRAZIANI; CENDES, FERNANDO; FRANCA, JR., MARCONDES C.. Structural signature of SCA3: From presymptomatic to late disease stages. ANNALS OF NEUROLOGY, v. 84, n. 3, p. 401-408, . (17/13102-7, 13/07559-3, 13/01766-7, 14/19786-7)
PELUZZO, THIAGO MAZZO; BONADIA, LUCIANA CARDOSO; DONATTI, AMANDA; MOLCK, MIRIAM COELHO; JARDIM, LAURA BANNACH; MARQUES, JR., WILSON; LOPES-CENDES, ISCIA TERESINHA; FRANCA, JR., MARCONDES C.. Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. CEREBELLUM, v. 18, n. 6, p. 1143-1146, . (13/01766-7)
THOLANCE, YANNICK; MORITZ, CHRISTIAN PETER; ROSIER, CAROLE; FERRAUD, KARINE; LASSABLIERE, FRANCOIS; REYNAUD-FEDERSPIEL, EVELYNE; FRANCA, JR., MARCONDES C.; MARTINEZ, ALBERTO R. M.; CAMDESSANCHE, JEAN-PHILIPPE; ANTOINE, JEAN-CHRISTOPHE; et al. Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, v. 91, n. 1, p. 49-57, . (13/26410-0, 13/01766-7)
MARTINEZ, ALBERTO R. M.; MARTINS, MELINA P.; MARTINS, JR., CARLOS R.; FABER, INGRID; DE REZENDE, THIAGO J. R.; NUCCI, ANAMARLI; FRANCA, JR., MARCONDES C.. Sensory ataxia rating scale: Development and validation of a functional scale for patients with sensory neuronopathies. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, v. 24, n. 3, . (13/26410-0, 13/01766-7)
GONZALEZ-SALAZAR, C.; TAKAZAKI, K. A. G.; MARTINEZ, A. R. M.; PIMENTEL-SILVA, L. R.; JACINTO-SCUDEIRO, L. A.; NAKAGAWA, E. Y.; MURAKAMI, C. E. FUJIWARA; SAUTE, J. A. M.; PEDROSO, J. L.; BARSOTTINI, O. G. P.; et al. Autonomic dysfunction in hereditary spastic paraplegia type 4. EUROPEAN JOURNAL OF NEUROLOGY, v. 26, n. 4, p. 687-693, . (13/07559-3, 13/01766-7)
MARTINEZ, A. R. M.; DE LIMA, F. D.; MARTINS, M. P.; PEREIRA, I. E.; MIOTTO, N.; MAZO, D. F. C.; VIGANI, A. G.; DA COSTA, L. B. E.; STUCCHI, R. S. B.; ALMEIDA, J. R. S.; et al. Sensory neuronopathy is a specific and disabling neurological manifestation of autoimmune hepatitis. EUROPEAN JOURNAL OF NEUROLOGY, v. 27, n. 10, . (13/01766-7, 13/26410-0)
CASSEB, RAPHAEL F.; DE CAMPOS, BRUNNO M.; MARTINEZ, ALBERTO R. M.; CASTELLANO, GABRIELA; FRANCA JUNIOR, MARCONDES C.. Selective sensory deafferentation induces structural and functional brain plasticity. NEUROIMAGE-CLINICAL, v. 21, . (14/15918-6, 13/01766-7)
FABER, INGRID; MURO MARTINEZ, ALBERTO ROLIM; MARTINS, JR., CARLOS ROBERTO; MAIA, MAIDANE LUISE; SOUZA, JULIANA PASQUOTTO; LOURENCO, CHARLES MARQUES; MARQUES, JR., WILSON; MONTECCHIANI, CELESTE; ORLACCHIO, ANTONIO; PEDROSO, JOSE LUIZ; et al. SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response. MOVEMENT DISORDERS, v. 33, n. 10, p. 1650-1656, . (13/01766-7)
MARTINS JUNIOR, CARLOS ROBERTO; MURO MARTINEZ, ALBERTO ROLIM; VASCONCELOS, INGRID FABER; RIBEIRO DE REZENDE, THIAGO JUNQUEIRA; CASSEB, RAPHAEL FERNANDES; PEDROSO, JOSE LUIZ; POVOAS BARSOTTINI, ORLANDO GRAZIANI; LOPES-CENDES, ISCIA; FRANCA, JR., MARCONDES CAVALCANTE. Structural signature in SCA1: clinical correlates, determinants and natural history. JOURNAL OF NEUROLOGY, v. 265, n. 12, p. 2949-2959, . (13/01766-7)
MARTINEZ, ALBERTO R. M.; CASSEB, RAPHAEL F.; MARTINS, JR., CARLOS R.; NUCCI, ANAMARLI; FRANCA, JR., MARCONDES C.. Sensory neuronopathy heralding human T cell lymphotropic virus type I myelopathy. JOURNAL OF NEUROVIROLOGY, v. 24, n. 3, p. 369-371, . (13/01766-7, 14/19786-7)
MURO MARTINEZ, ALBERTO ROLIM; MARTINS, MELINA PAZIAN; RIBEIRO DE REZENDE, THIAGO JUNQUEIRA; FABER, INGRID; GONZALEZ SALAZAR, CARELIS DEL VALLE; GIROTTO TAKAZAKI, KAREN ANTONIA; NUCCI, ANAMARLI; FRANCA, JR., MARCONDES CAVALCANTE. Autonomic dysfunction is frequent and disabling in non-paraneoplastic sensory neuronopathies. JOURNAL OF THE NEUROLOGICAL SCIENCES, v. 402, p. 111-117, . (13/01766-7, 13/26410-0)
DE ALCANTARA, CASSIA; CRUZEIRO, MARCELO MAROCO; FRANCA JR, MARCONDES C.; CAMARGOS, SARAH TEIXEIRA; DE SOUZA, LEONARDO CRUZ. Amyotrophic lateral sclerosis type 8 is not a pure motor disease: evidence from a neuropsychological and behavioural study. JOURNAL OF NEUROLOGY, v. 266, n. 8, p. 1980-1987, . (13/01766-7)
MARTINS JUNIOR, CARLOS ROBERTO; DE BORBA, FABRICIO CASTRO; MURO MARTINEZ, ALBERTO ROLIM; RIBEIRO DE REZENDE, THIAGO JUNQUEIRA; CENDES, ISCIA LOPES; PEDROSO, JOSE LUIZ; POVOAS BARSOTTINI, ORLANDO GRAZIANI; FRANCA JUNIOR, MARCONDES CAVALCANTE. Vinte e cinco anos desde a identificação do primeiro gene das SCAs: história, aspectos clínicos e perspectivas para a SCA1. Arquivos de Neuro-Psiquiatria, v. 76, n. 8, p. 555-562, . (13/01766-7, 14/19786-7)
TAKAZAKI, KAREN A. G.; REZENDE, THIAGO JUNQUEIRA R.; MARTINEZ, ALBERTO R. M.; GONZALEZ-SALAZAR, CARELIS; NUCCI, ANAMARLI; LOPES-CENDES, ISCIA; FRANCA, JR., MARCONDES C.. Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia. CLINICAL NEUROPHYSIOLOGY, v. 129, n. 11, p. 2290-2295, . (13/01766-7)
NUNES, MARCELO B.; MARTINEZ, ALBERTO ROLIM M.; REZENDE, THIAGO JUNQUEIRA R.; FRIEDMAN, JOSEPH H.; LOPES-CENDES, ISCIA; D'ABREU, ANELYSSA; FRANCA, JR., MARCONDES C.. Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis. PARKINSONISM & RELATED DISORDERS, v. 21, n. 12, p. 1441-1447, . (13/01766-7)
REZENDE, THIAGO JUNQUEIRA R.; MARTINEZ, ALBERTO ROLIM M.; FABER, INGRID; GIROTTO, KAREN; PEDROSO, JOSE LUIZ; BARSOTTINI, ORLANDO G.; LOPES-CENDES, ISCIA; CENDES, FERNANDO; FARIA, ANDREIA V.; FRANCA, MARCONDES C.. Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI. Human Brain Mapping, v. 38, n. 8, p. 4157-4168, . (13/07559-3, 13/01766-7, 14/19786-7)
DE ANDRADE, HELEN M. T.; DE ALBUQUERQUE, MILENA; AVANSINI, SIMONI H.; ROCHA, CRISTIANE DE S.; DOGINI, DANYELLA B.; NUCCI, ANAMARLI; CARVALHO, BENILTON; LOPES-CENDES, ISCIA; FRANCA, JR., MARCONDES C.. MicroRNAs-424 and 206 are potential prognostic markers in spinal onset amyotrophic lateral sclerosis. JOURNAL OF THE NEUROLOGICAL SCIENCES, v. 368, p. 19-24, . (13/01766-7)
TAKAZAKI, KAREN A. G.; QUINAGLIA, THIAGO; VENANCIO, THIAGO D.; MARTINEZ, ALBERTO R. M.; SHAH, RAVI V.; NEILAN, TOMAS G.; JEROSCH-HEROLD, MICHAEL; COELHO-FILHO, OTAVIO R.; FRANCA, JR., MARCONDES C.. Pre-clinical left ventricular myocardial remodeling in patients with Friedreich's ataxia: A cardiac MRI study. PLoS One, v. 16, n. 3, . (15/15402-2, 13/01766-7, 16/26209-1, 17/03708-5)
MURO MARTINEZ, ALBERTO ROLIM; MACHADO COSTA, MARCELA CAMARA; CAIRES NOVAES, MARCO ANTONIO; LIMA, HUMBERTO CASTRO; NUCCI, ANAMARLI; FRANCA, MARCONDES C., JR.. A NOVEL PHENOTYPE OF ZIKA VIRUS-RELATED NEUROLOGICAL DISEASE: SENSORY NEURONOPATHY. MUSCLE & NERVE, v. 57, n. 2, p. 2-pg., . (13/01766-7)
FABRICIO DINIZ DE LIMA; ALBERTO ROLIM MURO MARTINEZ; GABRIEL DA SILVA SCHMITT; ANDREA FERNANDES ELOY DA COSTA FRANÇA; PAULO EDUARDO NEVES FERREIRA VELHO; JULIANA AKITA; JOSÉ ANTÔNIO GARBINO; ANAMARLI NUCCI; MARCONDES CAVALCANTE FRANÇA JR. Persistência das ondas-F nas síndromes sensitivas periféricas. Arquivos de Neuro-Psiquiatria, v. 81, n. 9, p. 785-794, . (13/01766-7, 13/26410-0)

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