Clinical, immunological and neurophysiological characterization of sensory neuronopathies

• Grant number: 13/26410-0
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)
• Start date: August 01, 2014
• End date: July 31, 2018
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Marcondes Cavalcante Franca Junior
• Grantee: Alberto Rolim Muro Martinez
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 13/01766-7 - Sensory neuronopathies: investigation of new diagnostic methods, mechanisms of the disease and therapeutic strategies, AP.JP

Abstract

Sensory neuropathies (SN) constitute a subgroup of peripheral neuropathies in which the dorsal root ganglia are damaged. Its recognition is critical since they may be the first symptom of systemic diseases. On clinical grounds its differentiation from polyneurophaties lies upon the multifocal/asymmetric pattern and lack of length-related sensory impairment. The absence of proper clinical instruments to follow these patients brings serious difficulties to their treatment. Nevertheless, although the autonomic system impairment is part of the disease, its full extension and characterization is far from achieved. Finally, due to the several etiological sources underlying the SN, its diagnosing process may be challenging and even after an extensive workup, 50% of the patients remain with the idiopathic hypothesis for SN. That pointed, the SN's clinical, immulological and neurophysiological characterization sustains its relevance. Patients with SN followed in the Neurological clinic of the Hospital das Clínicas da UNICAMP will be included. Several clinical scales will be used in order to identify the best instrument in quantification of the sensory ataxia. The autonomic system will be accessed by the evaluation of the sudomotor relex, R-R interval variation and also skin biopsies. Those patients with idiopathic SN will also have their blood and spinal fluid samples evaluated to identify their immunological profile. (AU)

Scientific publications

(10)

(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)

REZENDE, T. J. R.; MARTINEZ, A. R. M.; FABER, I.; GIROTTO TAKAZAKI, K. A.; MARTINS, M. P.; DE LIMA, F. D.; LOPES-CENDES, I.; CENDES, F.; FRANCA, M. C.. Developmental and neurodegenerative damage in Friedreich's ataxia. EUROPEAN JOURNAL OF NEUROLOGY, v. 26, n. 3, p. 483-489, MAR 2019. (13/26410-0, 14/19786-7)

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, JAN 2019. (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, JULY 2019. (13/26410-0, 13/01766-7)

MURO MARTINEZ, ALBERTO ROLIM; RIBEIRO, MAYANI COSTA; DE LIMA, FABRICIO DINIZ; MARTINS JR, CARLOS ROBERTO; MARTINS, MELINA PAZIAN; NUCCI, ANAMARLI; FRANCA JR, MARCONDES CAVALCANTE. Erro e atraso diagnóstico nas neuronopatias sensitivas não paraneoplásicas. Arquivos de Neuro-Psiquiatria, v. 77, n. 7, p. 451-455, JUL 2019. (13/26410-0)

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., 2020-10-01. (13/01766-7, 13/26410-0)

CONDE, RODRIGO; FUSCO, TATIANA; TOMASELLI, PEDRO; JUNIOR, WILSON; BARREIRO, AMILTON. Sweating disturbances and thermal sensory profile in cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, v. 23, n. 4, p. 1-pg., 2018-12-01. (12/07165-2, 13/26410-0, 13/03150-3)

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, JUN 2020. (13/01766-7, 13/26410-0)

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, JUL 15 2019. (13/01766-7, 13/26410-0)

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, 2023-10-27. (13/01766-7, 13/26410-0)

CONDE, R. M.; FUSCO, T.; MARTINEZ, A. R.; FRANCA, M. C., JR.; MARQUES, W., JR.; BARREIRA, A. A.. SWEATING DISTURBANCES IN SENSORY NEURONOPATHY. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, v. 22, n. 3, p. 1-pg., 2017-09-01. (12/07165-2, 13/26410-0, 13/03150-3)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

MARTINEZ, Alberto Rolim Muro. Contribution to the etiological diagnosis, phenotypic characterization and follow-up of sensory neuronopathy patients. 2019. Doctoral Thesis - Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas Campinas, SP.