Fabrício Diniz de Lima

Universidade Estadual de Campinas (UNICAMP)

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Marcondes C. França

Universidade Estadual de Campinas (UNICAMP)

Alberto Martínez

Universidade Estadual de Campinas (UNICAMP)

Anamarli Nucci

Universidade Estadual de Campinas (UNICAMP)

Melina P. Martins

Universidade Estadual de Campinas (UNICAMP)

Orlando Graziani Póvoas Barsottini

Universidade Federal de São Paulo

José Luiz Pedroso

Universidade Federal de São Paulo

Thiago Junqueira Ribeiro de Rezende

Universidade Estadual de Campinas (UNICAMP)

Gabriel da Silva Schmitt

Universidade Estadual de Campinas (UNICAMP)

Arthur Oscar Schelp

Universidade Estadual Paulista (Unesp)

Wilson Marques

Universidade de São Paulo

Cooperative Institutions

Universidade Estadual de Campinas (UNICAMP)

Universidade de São Paulo

Hospital de Clínicas da Unicamp

Universidade Federal de São Paulo

Universidade Estadual Paulista (Unesp)

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Brazilian Institute of Neuroscience and Neurotechnology

John Wiley & Sons (United States)

Fundação de Apoio à Universidade Federal de São Paulo

Hospital São Paulo

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective

The Cerebellum (2021)

Felipe Franco da Graça Thiago Mazzo Peluzzo Luciana Cardoso Bonadia Alberto Martínez Fabrício Diniz de Lima

Cerebellar ataxia

Medical genetics

10.1007/s12311-021-01268-1

Cite

Citations (12)

Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions

Movement Disorders (2020)

Gabriel da Silva Schmitt Alberto Martínez Felipe Franco da Graça Fabrício Diniz de Lima Luciana Cardoso Bonadia

We read the letter titled "RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy" published online in April 20201 with great interest. In light of that letter, we would like to expand the phenotypic spectrum of RFC1 expansion-related disorders by reporting dopa-responsive parkinsonism in a 63-year-old woman. She developed parkinsonian symptoms in her early 50s, characterized by bradykinesia, resting tremor, and stiffness. The patient was started on levodopa as a symptomatic therapy with overt gait improvement (Video S1). Approximately 1 year later, she noticed oscillopsia and sensory complaints described as asymmetrical limb paresthesia that became confluent and associated with decreased vibration as well as proprioceptive sensation leading to gait unsteadiness. Head impulse test demonstrated absent vestibulo-ocular reflex bilaterally. A 20-year dry cough history was also reported. Brain magnetic resonance imaging and laboratory workup were unremarkable. Nerve conduction studies showed diffuse abnormalities restricted to sensory nerves, quantitative sudomotor axonal reflex was normal, and heart rate variability revealed incipient cardiac dysautonomia. Dopamine transporter scan highlighted a marked reduction of dopaminergic transporters in the bilateral striatum (Fig. 1A). Whole-exome sequencing failed to identify relevant variants, but triplet-repeat primed polymerase chain reaction detected biallelic (AAGGGn) intronic RFC1 expansions (Fig. 1C). Since the description of biallelic intronic RFC1 expansions as the underlying cause for cerebellar ataxia with neuropathy and vestibular areflexia syndrome in 2019, the full phenotypic spectrum related to this genetic abnormality remains to be determined.1-3 Herein we report a patient with RFC1 expansions leading to cerebellar ataxia with neuropathy and vestibular areflexia syndrome and dopa-responsive parkinsonism as part of her clinical picture. Although different cohorts involving patients with parkinsonism in the context of multiple system atrophy failed to demonstrate intronic RFC1 expansions as a causative factor,1, 3 we hypothesize that parkinsonism could be related to RFC1 in our patient. Indeed, the absence of autonomic features (with normal quantitative sudomotor axonal reflex) and hypo/anosmia combined with the lack of rapid eye movement behavior disorder all argue against the diagnosis of classical Parkinson's disease. Her benign clinical course without motor fluctuations more than a decade after levodopa start is also atypical. Lastly, the simultaneous occurrence of 2 rare conditions—homozygous RFC1 expansions and young-onset parkinsonism—just by chance would be possible but, rather, improbable. This description, although anecdotic, raises the possibility that dopa-responsive parkinsonism is part of the RFC1 clinical spectrum. Further studies in young-onset parkinsonian patients should be done to validate this assumption. (1) Research project: A. Conception, B. Organization, C. Execution; (2) Manuscript: A. Writing of the first draft, B. Review and Critique. G.S.S.: 1B, 1C, 2A A.R.M.M.: 1A, 1B, 2B F.F.G.: 1A, 2B F.D.L.: 1A, 2B L.C.B.: 1B, 1C, 2B B.J.A.: 1C, 2B A.N.: 1A, 2B M.C.F.: 1A, 1B, 2B Video S1: A video highlighting the described patient in prelevodopa and postlevodopa treatment. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Cerebellar ataxia

Ataxic Gait

10.1002/mds.28286

Cite

Citations (18)

Abnormal Spontaneous Eye Movements as Initial Presentation of Organophosphate Poisoning.

PubMed (2017)

Igor de Lima e Teixeira Silméia Garcia Zanati Bazan Arthur Oscar Schelp Gustavo José Luvizutto Fabrício Diniz de Lima

Atypical ocular bobbing may result from an intentional poisoning from an organophosphate compound.The patient exhibited conjugated, slow, arrhythmic, unpredictable eye movements in all directions, diagnosed as atypical ocular bobbing.This is a rare, well-documented, clinically relevant case for medical students for correct diagnosis and appropriate treatment of organophosphate intoxication.

Organophosphate poisoning

Presentation (obstetrics)

10.7916/d80865ws

Cite

Citations (1)

Abordagem terapêutica na miastenia grave

Alberto Rolim Muro Martinez Martinez Fabrício Diniz de Lima Marcondes C. França

10.5935/978-65-5848-119-5.c0002

Cite

Citations (0)

Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation

Clinical Neurophysiology (2022)

Gabriel da Silva Schmitt Fabrício Diniz de Lima Paula Camila A.A.P. Matos Alberto Martínez Carelis González‐Salazar

Dysautonomia

Sudomotor

Axon reflex

Valsalva maneuver

10.1016/j.clinph.2022.07.501

Cite

Citations (8)

Sensory neuronopathy is a specific and disabling neurological manifestation of autoimmune hepatitis

European Journal of Neurology (2020)

Alberto Martínez Fabrício Diniz de Lima Melina P. Martins Isadora Poliana Dos Santos Pereira N. Miotto

Neurological manifestations have been identified in the context of autoimmune hepatitis (AIH). Previous case reports highlighted the association between AIH and sensory neuronopathy (SN). Despite that, little is known about the frequency of AIH-related SN and its clinical/neurophysiological profile. Moreover, it is not clear whether SN is an AIH-specific manifestation or related to chronic liver damage.Seventy consecutive AIH patients were enrolled and their characteristics were compared with 52 consecutive patients with chronic active hepatitis B. All subjects underwent clinical and neurophysiological evaluation. Further comparisons were performed between AIH SN and AIH non-SN patients.Mean ages and male:female proportions in the AIH and chronic active hepatitis B groups were 42.2 ± 16.3/51.7 ± 13.6 years and 14:56/29:23, respectively. The frequencies of carpal tunnel syndrome, radiculopathy and polyneuropathy were similar between groups. In contrast, SN was identified only in AIH patients (5/70 vs. 0/52, P = 0.04); the overall prevalence of AIH-related SN was 7% with an average profile of a woman in her 40s with asymmetric onset of sensory deficits that chronically evolved to disabling proprioceptive ataxia associated with marked dysautonomia. Neurological disability and hepatocellular damage did not follow in parallel. Anti-fibroblast growth factor receptor type 3 antibodies were found in 3/5 (60%) of the patients with AIH-related SN. Clinical or demographic predictors of SN in the context of AIH could not be identified.Sensory neuronopathy, but not other peripheral nervous system diseases, is a specific AIH neurological manifestation. It is often disabling and, in contrast to hepatocellular injury, does not respond to immunosuppression.

Autoimmune Hepatitis

Dysautonomia

10.1111/ene.14355

Cite

Citations (4)

Giant cholesteatoma: case and literature review' report

DOAJ (DOAJ: Directory of Open Access Journals) (2010)

Leonardo Mendes Acatauassú Nunes Adriano Liberman Magalhães de Barros Renato Valério Rodrigues Cal Claudio Tobias Acatauassú Nunes Fabrício Diniz de Lima

Source

Cite

Citations (1)

Autonomic function in sporadic and familial ALS type 8

Clinical Neurophysiology (2023)

Melina P. Martins Carelis González‐Salazar Fabrício Diniz de Lima Tauana Bernardes Leoni Alberto Martínez

Sudomotor

Axon reflex

Dysautonomia

Valsalva maneuver

Autonomic nerve

10.1016/j.clinph.2023.08.006

Cite

Citations (3)

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies

Arquivos de Neuro-Psiquiatria (2019)

Alberto Martínez Mayani Costa Ribeiro Fabrício Diniz de Lima Carlos Roberto Martins Melina P. Martins

Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments.There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01).These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.

Etiology

Demographics

Medical record

10.1590/0004-282x20190065

Cite

Citations (4)

F-waves persistence in peripheral sensory syndromes

Arquivos de Neuro-Psiquiatria (2023)

Fabrício Diniz de Lima Alberto Martínez Gabriel da Silva Schmitt Andréa Fernandes Eloy da Costa França Paulo Eduardo Neves Ferreira Velho

The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation. However, this task is often challenging in clinical practice. We hypothesize that F-wave assessment might be helpful, since it is able to detect subtle signs of motor involvement, which are found in SP and SM, but not in SN.The aim of the present study was to determine whether F-waves are useful to distinguish SN from SP and SM.We selected 21 patients with SP (12 diabetes mellitus, 4 transthyretin familial amyloid polyneuropathy, 4 others), 22 with SM (22 leprosy), and 26 with SN (13 immune-mediated, 10 idiopathic, 3 others) according to clinical-electrophysiological-etiological criteria. For every subject, we collected data on height and performed 20 supramaximal distal stimuli in median, ulnar, peroneal, and tibial nerves, bilaterally, to record F-waves. Latencies (minimum and mean) and persistences were compared across groups using the Kruskal-Wallis and Bonferroni tests. P-values < 0.05 were considered significant.All groups were age, gender, and height-matched. Overall, there were no significant between-group differences regarding F-wave latencies. In contrast, F-wave persistence was able to stratify the groups. Peroneal F-wave persistence was higher, bilaterally, in the SN group compared to SM and SP (p < 0.05). In addition, F-waves persistence of the ulnar and tibial nerves was also helpful to separate SN from SP (p < 0.05).F-wave persistence of the peroneal nerves might be an additional and useful diagnostic tool to differentiate peripheral sensory syndromes.A distinção entre neuronopatias sensitivas (SN) e polineuropatias sensitivas (SP) e multineuropatias sensitivas (SM) é importante para a investigação etiológica e para o prognóstico. Contudo, esta tarefa é desafiadora na prática clínica. Hipotetizou-se que a avaliação das ondas-F pode ser útil, por ser capaz de detectar envolvimento motor nas SP e SM, mas não nas SN.Determinar se as ondas-F podem ajudar a distinguir entre SN, SP e SM. MéTODOS: Selecionou-se 21 pacientes com SP (12 diabetes mellitus, 4 ATTR-FAP e 4 com outras neuropatias), 22 com SM (22 hanseníases) e 26 com SN (13 imunomediadas, 10 idiopáticas e 3 com outras neuronopatias), de acordo com critérios clínicos, etiológicos e eletrofisiológicos. Para cada indivíduo, foi aferida a altura e foram aplicados 20 estímulos distais supramáximos nos nervos mediano, ulnar, fibular e tibial, bilateralmente, para registrar as ondas-F. Uma comparação foi feita, por grupo, das latências (mínimas e médias) e persistências pelos testes Kruskal-Wallis e Bonferroni. Valores de p < 0.05 foram considerados estatisticamente significativos.Todos os grupos foram pareados por idade, sexo e altura. Não houve diferença estatística significativa entre os grupos quanto às latências das ondas-F. A persistência da onda-F foi capaz de estratificar os grupos, sendo as dos nervos fibulares bilateralmente maiores no grupo SN que nos grupos SM e SP (p < 0.05). Adicionalmente, a persistência das ondas-F dos nervos ulnares e tibiais também foi útil para distinguir SN de SP (p < 0.05). CONCLUSãO: A persistência das ondas-F dos nervos fibulares pode ser uma ferramenta adicional e útil para diferenciar síndromes sensitivas periféricas.

Persistence (discontinuity)

Etiology

10.1055/s-0043-1772599

Cite

Citations (0)