Publications by authors named "Wladimir Bocca Vieira de Rezende Pinto"

78 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

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

Huntington's disease as an unexpected cause of deafness with dystonia and chorea.

Parkinsonism Relat Disord 2020 07 1;76:10-12. Epub 2020 Jun 1.

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

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http://dx.doi.org/10.1016/j.parkreldis.2020.05.039DOI Listing
July 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

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

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

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

-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

J Pediatr Genet 2018 Mar 24;7(1):40-42. Epub 2017 Aug 24.

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

Genetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited leukoencephalopathies. We describe a 6-month-old Brazilian boy with a 2-month history of severe and rapidly progressive developmental and psychomotor regression and seizures. Neurological examination showed spastic tetraparesis and lethargy. Neuroimaging showed diffuse and symmetric cavitating cystic leukoencephalopathy. Whole-exome sequencing revealed compound heterozygous mutations in the gene, providing definite genetic diagnosis of multiple mitochondrial dysfunction syndrome type 1. We report a rare presentation of early-onset cystic leukoencephalopathy in the context of multiple mitochondrial dysfunction syndrome type 1.
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http://dx.doi.org/10.1055/s-0037-1606295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809165PMC
March 2018

Rapidly progressive subacute motor neuronopathy disclosing type B2 thymoma.

Arq Neuropsiquiatr 2018 Jan;76(1):62

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/10.1590/0004-282X20170168DOI Listing
January 2018

Proximal limb weakness and amyotrophy in a man with silicosis.

Arq Neuropsiquiatr 2018 Jan;76(1):59

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

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http://dx.doi.org/10.1590/0004-282X20170175DOI Listing
January 2018

Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation.

Neuromuscul Disord 2018 02 24;28(2):169-172. Epub 2017 Nov 24.

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

Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes. Two unrelated Brazilian men with early-onset axonal CMT-like presentations associated with SACS gene mutations are presented. Both patients presented with pure sensorimotor axonal neuropathy without cerebellar ataxia, spastic paraplegia or other systemic and neurological involvement. Classical neuroimaging findings observed in other sacsinopathies were observed in both cases. Homozygous pathogenic mutations were found in SACS gene in both patients. SACS gene mutations can be associated with pure axonal sensorimotor neuropathy without other neurological features, but with typical neuroimaging features of other sacsinopathies, disclosing the importance of performing neuroimaging studies in patients with suspected axonal CMT.
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http://dx.doi.org/10.1016/j.nmd.2017.11.008DOI Listing
February 2018

Abnormal tongue features as a clinical clue for late-onset Pompe's disease.

Arq Neuropsiquiatr 2017 Nov;75(11):835-836

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

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http://dx.doi.org/10.1590/0004-282X20170130DOI Listing
November 2017

Teaching Neuro: MR neurography for the diagnosis of hypertrophic neuropathies.

Neurology 2017 10;89(16):e201

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.0000000000004525DOI Listing
October 2017

Duchenne muscular dystrophy: classical and new therapeutic purposes and future perspectives.

Arq Neuropsiquiatr 2017 08;75(8):495-496

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

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http://dx.doi.org/10.1590/0004-282X20170086DOI Listing
August 2017

Burning pain attacks and red skin in a young woman.

Arq Neuropsiquiatr 2017 Jul;75(7):491

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/10.1590/0004-282X20170078DOI Listing
July 2017

New genetic causes for complex hereditary spastic paraplegia.

J Neurol Sci 2017 Aug 15;379:283-292. Epub 2017 Jun 15.

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

Introduction: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far. We performed review of medical records from twenty-one patients from seventeen Brazilian families with complex phenotype of HSP. All cases have previously negative mutations in SPG11/KIAA1840 and SPG7 gene and were evaluated by whole-exome sequencing. An extensive description of systemic and neurological signs has been described.

Results: Whole-exome sequencing was unremarkable in eight patients and established a definite genetic diagnosis in thirteen patients of twelve non-related families. Mutations were found in genes previously implicated in other neurodegenerative disorders such as Amyotrophic Lateral Sclerosis, Hereditary Neuropathy, Spastic Ataxias, Neurodegeneration with Brain Iron Accumulation, Glycogen Metabolism, Congenital Lipodystrophy and aminoacyl-tRNA synthetases disorders.

Conclusions: We report thirteen new genetically-proven cases of complex HSP, expanding the clinical spectrum of presentations of HSP, providing new pathophysiological mechanisms and disclosing new potential therapeutic targets.
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http://dx.doi.org/10.1016/j.jns.2017.06.019DOI Listing
August 2017

Familial progressive bilateral facial paralysis in Finnish type hereditary amyloidosis.

Pract Neurol 2017 Oct 3;17(5):408-409. Epub 2017 Jun 3.

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/10.1136/practneurol-2017-001690DOI Listing
October 2017

Collagen type VI-related myopathy.

Pract Neurol 2017 Oct 3;17(5):406-407. Epub 2017 Jun 3.

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

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http://dx.doi.org/10.1136/practneurol-2017-001661DOI Listing
October 2017

Postictal thoracocervicofacial purpura.

Pract Neurol 2017 Aug 20;17(4):306. Epub 2017 Apr 20.

Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.

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http://dx.doi.org/10.1136/practneurol-2017-001633DOI Listing
August 2017

Epilepsy and early-onset overgrowth syndrome revealing Sotos syndrome.

Arq Neuropsiquiatr 2017 Feb;75(2):134

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/10.1590/0004-282X20160180DOI Listing
February 2017

Progressive hearing loss and cerebellar ataxia in anti-Ma2-associated autoimmune encephalitis.

Arq Neuropsiquiatr 2017 Jan;75(1):74-75

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

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http://dx.doi.org/10.1590/0004-282X20160169DOI Listing
January 2017

Infantile-onset ascending spastic paraplegia phenotype associated with SPAST mutation.

J Neurol Sci 2016 Dec 12;371:34-35. Epub 2016 Oct 12.

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/10.1016/j.jns.2016.10.017DOI Listing
December 2016

Teaching NeuroImages: Facial grimacing and sensorineural hearing loss in a woman with cirrhosis of the liver.

Neurology 2016 11;87(19):e239

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.0000000000003312DOI Listing
November 2016