Publications by authors named "Paulo Victor Sgobbi de Souza"

80 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

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

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

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

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

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

Far beyond the motor neuron: the role of glial cells in amyotrophic lateral sclerosis.

Arq Neuropsiquiatr 2016 Oct;74(10):849-854

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

Motor neuron disease is one of the major groups of neurodegenerative diseases, mainly represented by amyotrophic lateral sclerosis. Despite wide genetic and biochemical data regarding its pathophysiological mechanisms, motor neuron disease develops under a complex network of mechanisms not restricted to the unique functions of the alpha motor neurons but which actually involve diverse functions of glial cell interaction. This review aims to expose some of the leading roles of glial cells in the physiological mechanisms of neuron-glial cell interactions and the mechanisms related to motor neuron survival linked to glial cell functions.
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http://dx.doi.org/10.1590/0004-282X20160117DOI Listing
October 2016