Publications by authors named "Acary Souza Bulle Oliveira"

132 Publications

Acute hepatic porphyrias for the neurologist: current concepts and perspectives.

Arq Neuropsiquiatr 2021 01;79(1):68-80

Universidade Federal de São Paulo, Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, São Paulo SP, Brazil.

Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis.

Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias.

Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias.

Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients.

Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.
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http://dx.doi.org/10.1590/0004-282X20200096DOI Listing
January 2021

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy.

Neurology 2021 03 10;96(13):627-628. Epub 2021 Feb 10.

From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000011663DOI Listing
March 2021

Acute hepatic porphyrias for the neurologist: current concepts and perspectives.

Arq Neuropsiquiatr 2021 Jan 6. Epub 2021 Jan 6.

Universidade Federal de São Paulo, Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, São Paulo SP, Brazil.

Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis.

Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias.

Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias.

Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients.

Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.
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http://dx.doi.org/10.1590/0004-282X20200096DOI Listing
January 2021

Action of hormonal therapy in amyotrophic lateral sclerosis: a systematic review.

Rev Assoc Med Bras (1992) 2020 Nov;66(11):1589-1594

Departamento de Ginecologia e Obstetrícia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo; São Paulo, SP, Brasil.

Amyotrophic Lateral Sclerosis (ALS) is a fatal disease characterized by muscle weakness, atrophy, fasciculations, and decreased reflexes due to upper and lower motor neurons death. It can be present in both sexes (55-65 years), but with predominance in males. However, in female patients, ALS presents its first symptoms when they are already postmenopausal, when then the incidence ratio of the disease is practically equal between the sexes, which leads to a probable involvement of sex hormones in the development and protection against ALS. The aim of this systematic review, which used the PRISMA consensus and NOS (New Castle-Ottawa Scale) score, was to evaluate the evidence of the action of hormone therapy in women with ALS. The Medline and Cochrane databases were accessed from March 2019 to June 2019, and only full-text articles in Spanish, English, and Portuguese were included. Only four articles matched our inclusion criteria. Postmenopausal women who used exogenous estrogen did not have the same protective factor as women still under the action of endogenous estrogen in the same age group. There was also no increase in the survival of these women.
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http://dx.doi.org/10.1590/1806-9282.66.11.1589DOI Listing
November 2020

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

J Inherit Metab Dis 2020 Nov 3. Epub 2020 Nov 3.

Department of Neurology, Columbia University Medical Center, New York, New York, USA.

Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen-branching enzyme and secondary storage of glycogen in the form of polyglucosan bodies, involving the skeletal muscle, diaphragm, peripheral nerve (including autonomic fibers), brain white matter, spinal cord, nerve roots, cerebellum, brainstem and to a lesser extent heart, lung, kidney, and liver cells. The diversity of new clinical presentations regarding neuromuscular involvement is astonishing and transformed APBD in a key differential diagnosis of completely different clinical conditions, including axonal and demyelinating sensorimotor polyneuropathy, progressive spastic paraparesis, motor neuronopathy presentations, autonomic disturbances, leukodystrophies or even pure myopathic involvement with limb-girdle pattern of weakness. This review article aims to summarize the main clinical, biochemical, genetic, and diagnostic aspects regarding APBD with special focus on neuromuscular presentations.
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http://dx.doi.org/10.1002/jimd.12325DOI Listing
November 2020

Intragenic variants in the gene determine the clinical phenotype in 5q spinal muscular atrophy.

Neurol Genet 2020 Oct 1;6(5):e505. Epub 2020 Sep 1.

Department of Neurology (R.H.M., C.M., G.J.P., A.M.S.S., D.J.F.S., F.K., U.C.R., E.Z.); Department of Pathology (L.K., A.T.D., E.A.Z.), Faculdade de Medicina da Universidade de São Paulo (FMUSP); Departamento de Pediatria e Neuropediatria (J.G.-G., A.C.M.L.M., G.P.C.S.), Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte; Departamento de Neurologia - UNIFESP (A.S.B.O., P.V.S.S., W.B.V.R.P., E.A.G., I.B.F.), São Paulo; Departamento de Pediatria, Seção de Neurologia Infantil - UFRJ (F.N., A.P.Q.C.A.), Rio de Janeiro; Departamento de Neurologia (W.M., P.J.T.), FMUSP-RP, Ribeirao Preto; Mendelics Análise Genômica (M.D.O.R., J.P.K., F.P.M., F.K.), São Paulo; Serviço de Neurologia (J.A.M.S.), Hospital de Clinicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre; Unidade de Neurologia Infantil (M.M.B.), Hospital de Clinicas de Porto Alegre; Serviço de Genética Médica (J.A.M.S., M.L.S.-P., A.C.B.-F.), Hospital de Clinicas de Porto Alegre; UFRGS, Porto Alegre; Departamento de Bioquímica - UFRGS (M.L.S.-P.), Porto Alegre; Hospital Maria Lucinda (V.L., R.N.F.), Recife; Hospital Infantil Joao Paulo II (A.V.S.B.), Fundação Hospitalar de Minas Gerais, Belo Horizonte; Escola Bahiana de Medicina e Saúde Pública (M.C.M.-C.), Salvador; Hospital Infantil Albert Sabin (A.L.S.P.), Universidade Estadual do Ceará, Fortaleza; and Departamento de Neurologia (L.S.S., M.C.F.), Unicamp, Campinas, Brazil.

Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 () gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in and with the copy number.

Methods: Four hundred fifty Brazilian patients with SMA were included in a retrospective study, and clinical data were analyzed compared with genetic data; the copy number was obtained by multiplex ligation-dependent probe amplification and pathogenic variants in by next-generation sequencing.

Results: Four hundred two patients (89.3%) presented homozygous exon 7- deletion, and 48 (10.7%) were compound heterozygous for the common deletion in one allele and a point mutation in the other allele. Recurrent variants in exons 3 and 6 (c.460C>T, c.770_780dup and c.734_735insC) accounted for almost 80% of compound heterozygous patients. Another recurrent pathogenic variant was c.5C>G at exon 1. Patients with c.770_780dup and c.734_735insC had a clinical phenotype correlated with copy number, whereas the variants c.460C>T and c.5C>G determined a milder phenotype independently of the copies.

Conclusions: Patients with specific pathogenic variants (c.460C>T and c.5C>G) presented a milder phenotype, and the copy number did not correlate with disease severity in this group.
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http://dx.doi.org/10.1212/NXG.0000000000000505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524579PMC
October 2020

Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?

Cerebellum Ataxias 2020 24;7:13. Epub 2020 Aug 24.

Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP Brazil.

Background: Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expensive clinical challenge.

Case Presentation: In this article, we report a Brazilian man with adult-onset slowly progressive pure cerebellar ataxia, which developed neuropathy and hearing loss after fifteen years of ataxia onset, in which a primary mitochondrial DNA defect (MERRF syndrome - myoclonus epilepsy with ragged-red fibers) was confirmed through muscle biopsy evaluation and whole-exome sequencing.

Conclusions: Mitochondrial disorders are a clinically and genetically complex and heterogenous group of metabolic diseases, resulting from pathogenic variants in the mitochondrial DNA or nuclear DNA. In our case, a correlation with histopathological changes identified on muscle biopsy helped to clarify the definitive diagnosis. Moreover, in neurodegenerative and neurogenetic disorders, some symptoms may be evinced later during disease course. We suggest that late-onset and adult pure undetermined ataxias should be considered and investigated for mitochondrial disorders, particularly MERRF syndrome and other primary mitochondrial DNA defects, together with other more commonly known nuclear genes.
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http://dx.doi.org/10.1186/s40673-020-00122-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444269PMC
August 2020

Teaching NeuroImages: Slowly progressive hypertrophic brachial plexopathy due to mutation.

Neurology 2020 07 10;95(1):e109-e110. Epub 2020 Jun 10.

From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000009739DOI Listing
July 2020

Hardy-Weinberg Equilibrium in different mitochondrial haplogroups of four genes associated with neuroprotection and neurodegeneration.

Arq Neuropsiquiatr 2020 05 29;78(5):269-276. Epub 2020 May 29.

Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Background: Malfunctioning or damaged mitochondria result in altered energy metabolism, redox equilibrium, and cellular dynamics and is a central point in the pathogenesis of neurological disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease and Amyotrophic Lateral Sclerosis. Therefore, it is of utmost importance to identify mitochondrial genetic susceptibility markers for neurodegenerative diseases. Potential markers include the respiratory chain enzymes Riboflavin kinase (RFK), Flavin adenine dinucleotide synthetase (FAD), Succinate dehydrogenase B subunit (SDHB), and Cytochrome C1 (CYC1). These enzymes are associated with neuroprotection and neurodegeneration.

Objective: To test if variants in genes RFK, FAD, SDHB and CYC1 deviate from Hardy-Weinberg Equilibrium (HWE) in different human mitochondrial haplogroups.

Methods: Sequence variants in genes RFK, FAD, SDHB and CYC1 of 2,504 non-affected individuals of the 1,000 genomes project were used for mitochondrial haplogroup assessment and HWE calculations in different mitochondrial haplogroups.

Results: We show that RFK variants deviate from HWE in haplogroups G, H, L, V and W, variants of FAD in haplogroups B, J, L, U, and C, variants of SDHB in relation to the C, W, and A and CYC1 variants in B, L, U, D, and T. HWE deviation indicates action of selective pressures and genetic drift.

Conclusions: HWE deviation of particular variants in relation to global populational HWE, could be, at least in part, associated with the differential susceptibility of specific populations and ethnicities to neurodegenerative diseases. Our data might contribute to the epidemiology and diagnostic/prognostic methods for neurodegenerative diseases.
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http://dx.doi.org/10.1590/0004-282x20200002DOI Listing
May 2020

CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort.

J Neurol Sci 2020 Jul 19;414:116842. Epub 2020 Apr 19.

Department of Neurology, School of Medicine, University of Campinas - UNICAMP, Rua Tessália Vieira de Camargo, 126, Cidade Universitária "Zeferino Vaz", 13083-887 Campinas, SP, Brazil.

Little is known about the genetic basis of amyotrophic lateral sclerosis (ALS) outside Europe and US. In this study, we investigated whether intermediate CAG expansions at ATXN1 were associated to ALS in the Brazilian population. To accomplish that, representative samples from 411 unrelated patients and 436 neurologically normal controls from 6 centers spread over the territory were genotyped to quantify ATXN1 expansions. We found that ATXN1 intermediate-length expansion (≥34 CAG repeats) are associated with the disease (odds ratio = 2.19, 95% CI = 1.081-4.441, p = .026). Most ATXN1-positive patients had classical phenotype, but some of them presented predominant lower motor neuron involvement. None of them had associated ataxia. Frontotemporal dementia was concomitantly found in 12.5% of patients carrying the intermediate ATXN1 expansion. Further studies are needed to validate these findings and to understand the pathophysiological mechanisms that connect ataxin-1 and ALS.
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http://dx.doi.org/10.1016/j.jns.2020.116842DOI Listing
July 2020

Ultrasound versus electromyography for the detection of fasciculation in amyotrophic lateral sclerosis: systematic review and meta-analysis.

Radiol Bras 2020 Mar-Apr;53(2):116-121

Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.

The objective of this study was to determine the diagnostic accuracy of ultrasound and electromyography for the detection of fasciculation in patients with amyotrophic lateral sclerosis and to compare detection rates between the two methods. By searching the Cochrane Library, MEDLINE, Excerpta Medica, and Latin-American and Caribbean Health Sciences Literature databases, we identified studies evaluating the diagnostic accuracy and fasciculation detection rates of ultrasound and electromyography. The Quality Assessment of Diagnostic Accuracy Studies, version 2, and RTI item bank tools were used for the evaluation of methodological quality. Ultrasound, for 10 s or 30 s, had a higher detection rate than did electromyography in all muscles evaluated. The overall detection rate (in patients) did not differ significantly between ultrasound for 10 s and ultrasound for 30 s. The accuracy of ultrasound for 10 s was 70% in muscles and 85% in patients. The accuracy of ultrasound for 30 s was 82% in patients. Ultrasound provided detection rates superior to those achieved with electromyography, independent of the examination time and muscles evaluated.
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http://dx.doi.org/10.1590/0100-3984.2019.0055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170585PMC
April 2020

Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.

J Clin Neurosci 2020 May 19;75:228-231. Epub 2020 Mar 19.

Department of Neurology, Universidade Federal de São Paulo, SP, Brazil.

Charcot Marie Tooth (CMT) due to myelin protein zero (MPZ) mutations, may cause a wide variation of phenotypes, depending on the localization of the mutation within the gene. Among the most common phenotypes are: an infantile onset disease with extremely slow nerve conduction velocities (CMT1B) and an adult onset phenotype with nerve velocities in the axonal range (CMT2I). We reported a patient with CMT1B (MPZ p.Ser63del mutation) which developed an overlapping immune mediated polyradiculoneuropathy with recurrent episodes of quadriparesis and cranial nerve involvement. We observed reversible conduction block on serial neurophysiologic studies, non-uniform demyelination and good clinical response to prednisone and cyclophosphamide, as evidenced by objective functional recovery. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like characteristics have not yet been described associated with a MPZ p.Ser63del mutation. This description adds evidence indicating that a defective structural myelin protein may predispose peripheral nerves to immune attacks.
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http://dx.doi.org/10.1016/j.jocn.2020.03.014DOI Listing
May 2020

Teaching NeuroImages: Hopkins syndrome: A rare differential diagnosis of neurogenic monomelic amyotrophy.

Neurology 2020 03 10;94(9):e996-e997. Epub 2020 Feb 10.

From the Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000009038DOI Listing
March 2020

Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy.

Arq Neuropsiquiatr 2020 03 3;78(3):143-148. Epub 2020 Feb 3.

Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making.

Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies.

Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance.

Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations.

Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.
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http://dx.doi.org/10.1590/0004-282X20190168DOI Listing
March 2020

Brazilian Nursing and Psychology students' visits to patients with amyotrophic lateral sclerosis: prospective analysis.

Arq Neuropsiquiatr 2019 11;77(11):782-791

Universidade Federal de São Paulo, Escola Paulista de Medicina, Departmento de Neurologia, São Paulo SP, Brasil.

Introduction: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease without a cure, but multidisciplinary treatment can maintain the quality of life (QOL) of persons with ALS (PALS). Despite health professionals possibly being affected by ALS in their care roles, little is known about the impact of ALS care on these professionals.

Objective: To analyze the effects of interactions between PALS and Nursing/Psychology students.

Methods: Over 12 weeks, 16 student pairs performed weekly 60-minute home visits to 16 PALS. Instruments used for analyses were the McGill Quality of Life Questionnaire for the PALS; and the Draw-a-Person test and the Desiderative Questionnaire for the students. All instruments were applied twice: at the beginning (pre-first visit) and at the end of the study (post-12 visits).

Results: After 12 weeks, there was not a significant change in total QOL or its five domains (existential wellbeing, physical wellbeing, psychological wellbeing, physical symptoms, and support). Existential wellbeing/support domains contributed most to the QOL of the PALS (pre-first visit and post-12 visits). Students showed anxiety/impulsivity but preserved adequacy to reality, logical thinking and global perception with regard to the PALS. We found that students were psychologically fragile in some subgroups/moments.

Conclusions: Students' visits to PALS may contribute to the maintenance of the QOL of the patients. Additionally, visits, with psychological support for the students, seem safe and could contribute to the students' psychological maturation as health professionals. Additional psychological support may be necessary for some students in fragile subgroups/moments.
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http://dx.doi.org/10.1590/0004-282X20190134DOI Listing
November 2019

Cross-cultural adaptation and validation for the Brazilian population of the instrument Amyotrophic Lateral Sclerosis-Specific Quality of Life-Short Form (ALSSQOL-SF).

Qual Life Res 2020 Mar 29;29(3):805-813. Epub 2019 Oct 29.

Anesthesiology Department, São Paulo State University (UNESP), Medical School, Av. Prof. Mário Rubens Guimarães Montenegro s/n, Botucatu, SP, 18618687, Brazil.

Objective: This study aims to produce and validate the version of the instrument Amyotrophic Lateral Sclerosis-Specific Quality of Life-Short Form (ALSSQOL-SF) into Portuguese, adapted to the Brazilian cultural context.

Methodology: It is a cross-cultural adaptation and validation study, carried out in two Brazilian Public Universities, in the period from March, 2017, to November, 2018, according to the six steps guidelines of cultural and linguistic adaptation proposed by Beaton et al. (Spine 25(24):3186-3191, 2000). The World Health Organization Quality of Life (WHOQOL-BREF) and the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R) were used for perform the validation. In order to analyze the correlations between the ALSSQOL-SF, WHOQOL-BREF, and ALSFRS-R scores, Spearman's correlation coefficients were calculated. The project was approved by the Research Ethics Committee of the two participating institutions.

Result: All steps of the transcultural adaptation process were performed without intercurrence. The pilot test had the participation of 30 individuals, and the "Questionário Breve Específico de Qualidade de Vida para Pacientes com ELA (QVELA-20/Br)" tool was developed. During the validation phase, 100 patients were included, most of them were male (58%) with a median age of 59 years. The created version of the questionnaire are positively and strongly correlated with the WHOQOL-BREF and positively and weakly correlated with ALSFRS-R, as expected.

Conclusion: The study produced and validated a version of the instrument ALSSQOL-SF into Portuguese that is adapted to the Brazilian cultural context.
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http://dx.doi.org/10.1007/s11136-019-02342-2DOI Listing
March 2020

Paraneoplastic motor neuronopathy and malignant acanthosis nigricans.

Arq Neuropsiquiatr 2019 07 29;77(7):527. Epub 2019 Jul 29.

Universidade Federal de São Paulo; Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20190076DOI Listing
July 2019

Motor unit number index (MUNIX) in myopathic disorders: Clinical correlations and potential pitfalls.

Neurophysiol Clin 2019 Sep 19;49(4):329-334. Epub 2019 Jul 19.

Department of Neurology, Universidade Federal de São-Paulo, São-Paulo, Brazil.

Our aim was to study motor unit number index (MUNIX) in myopathic disorders. We studied 11 patients with myopathy, and healthy controls. We obtained MUNIX, compound muscle action potential (CMAP), motor unit size index (MUSIX) and alpha (α, power exponent from MUNIX equation) measurements from three different muscles. MUNIX and CMAP were significantly lower in one muscle. This MUNIX decrease may not be related to motor neuron loss, but rather to muscle fiber atrophy. MUSIX and α did not change and may be useful in determining whether the MUNIX decrease is indeed due to motor unit loss.
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http://dx.doi.org/10.1016/j.neucli.2019.07.002DOI Listing
September 2019

Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing.

Mitochondrion 2019 11 2;49:25-34. Epub 2019 Jul 2.

Department of Neurology, Columbia University Medical Center, New York, NY, USA.

Leigh syndrome represents a complex inherited neurometabolic and neurodegenerative disorder associated with different clinical, genetic and neuroimaging findings in the context of bilateral symmetrical lesions involving the brainstem and basal ganglia. Heterogeneous neurological manifestations such as spasticity, cerebellar ataxia, dystonia, choreoathetosis and parkinsonism are associated with multisystemic and ophthalmological abnormalities due to >75 different monogenic causes. Here, we describe the clinical and genetic features of a Brazilian cohort of patients with Leigh Syndrome in which muscle biopsy analysis showed mitochondrial DNA defects and determine the utility of whole exome sequencing for a final genetic diagnostic in this cohort.
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http://dx.doi.org/10.1016/j.mito.2019.06.008DOI Listing
November 2019

Estrogens: possible protection against Amyotrophic Lateral Sclerosis?

Rev Assoc Med Bras (1992) 2019 06 3;65(5):576-577. Epub 2019 Jun 3.

Department of Gynecology and Obstetrics, Hospital das Clínicas, School of Medicine of the University of São Paulo; São Paulo, Brasil.

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http://dx.doi.org/10.1590/1806-9282.65.5.576DOI Listing
June 2019

Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND).

Pract Neurol 2019 Oct 24;19(5):424-426. Epub 2019 Apr 24.

Neurology and Neurosurgery, UNIFESP - Federal University of São Paulo, Sao Paulo, Brazil.

Atypical motor neurone disease (MND) represents a challenging and expanding group of neurodegenerative disorders involving the upper or lower motor neurones, and rarely both. Neuro-ophthalmological disturbances such as gaze-evoked downbeat nystagmus are extremely rare in the context of typical and atypical MND. Finger extension weakness and downbeat nystagmus motor neurone disease (FEWDON-MND) syndrome has been recently recognised as a distinct syndromic phenotype of MND, with a characteristic clinical picture. We describe a 63-year-old woman with long-standing lower motor neurone involvement of the upper limbs, who on examination had gaze-evoked downbeat nystagmus. After extensive negative investigation for secondary causes of MND and downbeat nystagmus, we diagnosed FEWDON-MND syndrome.
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http://dx.doi.org/10.1136/practneurol-2018-002188DOI Listing
October 2019

Tonic pupils: an unusual autonomic involvement in chronic inflammatory demyelinating polyneuropathy (CIDP).

Neurol Sci 2019 Aug 17;40(8):1725-1727. Epub 2019 Apr 17.

Department of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Pedro de Toledo, 650, São Paulo, SP, 04039-002, Brazil.

Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neuropathy which affects mainly large myelinated axons and has a typically mild autonomic dysfunction mainly from postganglionic nerve fiber involvement.

Case Report: We report here an acute onset CIDP initially diagnosed as Guillain-Barré syndrome (GBS), unresponsive to treatment with intravenous immunoglobulin (IVIg), which later responded to plasmapheresis and corticoids. The patient had a markedly distal demyelination, prominent cranial nerve involvement and, interestingly, bilateral fixed dilated pupils. Despite complete clinical recovery, this neurological sign remained.

Conclusions: Tonic pupils have previously been described in different neurologic conditions, including GBS, but not yet in acute onset CIDP or in variants with predominantly distal demyelination. It differs from the classical Adie's pupil because it lacks the light-near dissociation. This case report expands the range of possible autonomic signs in acute onset CIDP, which could help physicians establish optimal treatment strategies earlier on.
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http://dx.doi.org/10.1007/s10072-019-03890-8DOI Listing
August 2019

Efficacy of different interaction devices using non-immersive virtual tasks in individuals with Amyotrophic Lateral Sclerosis: a cross-sectional randomized trial.

BMC Neurol 2018 Dec 17;18(1):209. Epub 2018 Dec 17.

Department of Physiotherapy, Speech Therapy and Occupational Therapy - Faculty of Medicine, University of São Paulo, Rua Cipotânea, 51, São Paulo, CEP: 05360-000, Brazil.

Background: Amyotrophic Lateral Sclerosis (ALS) is a rapid progressive neurodegenerative disease, characterized by a selective loss of motor neurons, brain stem and spinal cord which leads to deterioration of motor abilities. Devices that promote interaction with tasks on computers can enhance performance and lead to greater independence and utilization of technology.

Objective: To evaluate performance on a computer task in individuals with ALS using three different commonly used non-immersive devices.

Method: Thirty individuals with ALS (18 men and 12 women, mean age 59 years, range 44-74 years) with a mean score of 26, (minimum score of 14 and maximum 41) on the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) and 30 healthy controls matched for age and gender, participated. All participants were randomly divided into three groups, each using a different device system (motion tracking, finger motion control or touchscreen) to perform three task phases (acquisition, retention and transfer).

Results: Both the ALS and control group (CG) showed better performance on the computer task when using the touchscreen device, but there was limited transfer of performance onto the task performed on the Finger Motion control or motion tracking. However, we found that using the motion tracking device led to transfer of performance to the touchscreen.

Conclusion: This study presents novel and important findings when selecting interaction devices for individuals with ALS to access technology by demonstrating immediate performance benefits of using a touchscreen device, such as improvement of motor skills. There were possible transferable skills obtained when using virtual systems which may allow flexibility and enable individuals to maintain performance overtime.

Trial Registration: Registration name: Virtual Task in Amyotrophic Lateral Sclerosis; Registration number: NCT03113630 ; retrospectively registered on 04/13/2017. Date of enrolment of the first participant to the trial: 02/02/2016.
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http://dx.doi.org/10.1186/s12883-018-1212-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296030PMC
December 2018

Instruments for augmentative and alternative communication for children with autism spectrum disorder: a systematic review.

Clinics (Sao Paulo) 2018 11 29;73:e497. Epub 2018 Nov 29.

Laboratorio de Delineamento de Estudos e Escrita Cientifica, Faculdade de Medicina do ABC (FMABC), Santo Andre, SP, BR.

New technologies designed to improve the communication of autistic children can also help to promote interaction processes and cognitive and social development. The aim of this study was to analyze the instruments used to improve the communication skills of children with autism spectrum disorder. We searched the PubMed and Web of Science databases using the descriptors "autism", "Asperger", "education", "children" and "assistive technology" and selected articles that met the following inclusion criteria: (i) original research; (ii) written in English; (iii) based on participants with a primary diagnosis of autism spectrum disorder; and (iv) tested an instrument designed to promote communication in children with autism spectrum disorder. Our search retrieved 811 articles, of which 34 met the inclusion criteria. Data on 26 instruments were extracted, and the measurement properties of the instruments were combined with information about their outcomes and presentation. The most commonly used interventions were the Treatment and Education of Autistic and Related Communication Handicapped Children program and the Picture Exchange Communication System. The Treatment and Education of Autistic and Related Communication Handicapped Children program was shown to produce improvements in the communication skills, socialization and self-care skills of children with autism spectrum disorder. The Picture Exchange Communication System produced inconsistent results. The results of the identified studies confirm the significant importance of these instruments in improving the communicative process of autistic children.
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http://dx.doi.org/10.6061/clinics/2017/e497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238819PMC
November 2018

Test-Retest Reliability and Clinical Feasibility of a Motion-Controlled Game to Enhance the Literacy and Numeracy Skills of Young Individuals with Intellectual Disability.

Cyberpsychol Behav Soc Netw 2019 Feb 20;22(2):111-121. Epub 2018 Oct 20.

1 Faculdade de Medicina do ABC-FMABC, Departamento de Saúde das Coletividades, Santo André, São Paulo, Brasil.

Games using motion capture from web cameras have become increasingly popular. However, there are no games specifically designed to teach literacy to individuals with intellectual disabilities (ID). The aim of this study was to investigate the feasibility of introducing young individuals with ID to a new augmented reality game, the MoviLetrando, and establish its test-retest reliability to determine its usefulness in teaching the alphabet and motor control skills. The performance of a sample of 88 ID participants (52 males, 36 females, mean ± standard deviation age, 11.2 ± 2.6 years) was measured on two different testing sessions. Five dependent variables (total points, number of correct vowels/numbers, number of mistakes, number of omissions, and average time to reach symbols) were used for data analysis. The intraclass correlation coefficient (ICC), standard error of measurement (SEM), Cronbach's alpha, and Bland-Altman plots were used to estimate the test-retest reliability and measurement precision. Feasibility was assessed by examining recruitment, adherence, and acceptability in both phases of the game. The dependent variables identified in the MoviLetrando demonstrated an ICC of 0.44 to 0.82, suggesting acceptable/good test-retest reliability, respectively. The internal consistency was satisfactory. The small SEM, as well as the narrow width of the 95 percent limits of agreement in the Bland-Altman plots, implied that measurements of these dependent variables were precise and accurate on both the occasions. Excellent test-retest reliability for performance measurement was demonstrated in the ID participants, indicating that the MoviLetrando could be used as an outcome measure for this population.
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http://dx.doi.org/10.1089/cyber.2017.0534DOI Listing
February 2019

Perforating palmar disease in TTR-related familial amyloid polyneuropathy.

Arq Neuropsiquiatr 2018 08;76(8):569

Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20180066DOI Listing
August 2018

Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients.

Neurobiol Aging 2018 09 8;69:292.e15-292.e18. Epub 2018 May 8.

Department of Neurology, School of Medicine, University of Campinas-UNICAMP, Campinas, SP, Brazil. Electronic address:

Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 × l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29-5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population.
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.04.020DOI Listing
September 2018