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  1. Article ; Online: Diagnosis of limb-girdle muscular dystrophies in the molecular biology era: do clinical findings still matter?

    Werneck, Lineu Cesar

    Arquivos de neuro-psiquiatria

    2015  Volume 73, Issue 12, Page(s) 983–984

    MeSH term(s) Humans ; Molecular Biology ; Muscular Dystrophies, Limb-Girdle/diagnosis ; Muscular Dystrophies, Limb-Girdle/genetics
    Language English
    Publishing date 2015-12
    Publishing country Brazil
    Document type Editorial
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X20150198
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Genetic screening for transthyretin familial amyloid polyneuropathy to avoid misdiagnosis in patients with polyneuropathy associated with high protein in the cerebrospinal fluid.

    Lorenzoni, Paulo José / Giugno, Vinicius Riegel / Ducci, Renata Dal-Prá / Werneck, Lineu Cesar / Kay, Claudia Suemi Kamoi / Scola, Rosana Herminia

    Acta neurologica Belgica

    2023  Volume 123, Issue 4, Page(s) 1655–1657

    MeSH term(s) Humans ; Amyloid Neuropathies, Familial/diagnosis ; Amyloid Neuropathies, Familial/genetics ; Prealbumin/genetics ; Polyneuropathies/diagnosis ; Polyneuropathies/genetics ; Mutation ; Genetic Testing ; Diagnostic Errors ; Amyloid/genetics ; Amyloid/metabolism
    Chemical Substances Prealbumin ; Amyloid
    Language English
    Publishing date 2023-02-25
    Publishing country Italy
    Document type Letter
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-023-02215-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.

    Lorenzoni, Paulo José / Kay, Cláudia Suemi Kamoi / Ducci, Renata Dal-Pra / Fustes, Otto Jesus Hernandez / Rodrigues, Paula Raquel do Vale Pascoal / Arndt, Raquel Cristina / Scola, Rosana Herminia / Werneck, Lineu Cesar

    Arquivos de neuro-psiquiatria

    2024  Volume 82, Issue 2, Page(s) 1–4

    Abstract: ... myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients ...

    Title translation Miopatia por deficiência de carnitina palmitoiltransferase II: atualizando os aspectos genéticos da primeira publicação no Brasil.
    Abstract Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the
    MeSH term(s) Humans ; Carnitine O-Palmitoyltransferase/genetics ; Carnitine O-Palmitoyltransferase/metabolism ; Carnitine O-Palmitoyltransferase/deficiency ; Brazil ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/metabolism ; Metabolism, Inborn Errors/pathology ; Mutation
    Chemical Substances Carnitine O-Palmitoyltransferase (EC 2.3.1.21)
    Language English
    Publishing date 2024-02-23
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1055/s-0044-1779508
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Diagnosis of limb-girdle muscular dystrophies in the molecular biology era

    Lineu Cesar Werneck

    Arquivos de Neuro-Psiquiatria, Vol 73, Iss 12, Pp 983-

    do clinical findings still matter?

    2015  Volume 984

    Keywords Neurosciences. Biological psychiatry. Neuropsychiatry ; RC321-571 ; Internal medicine ; RC31-1245 ; Medicine ; R
    Language English
    Publishing date 2015-12-01T00:00:00Z
    Publisher Academia Brasileira de Neurologia - ABNEURO
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Triple-seronegative myasthenia gravis: clinical and epidemiological characteristics.

    Rodrigues, Paula Raquel do Vale Pascoal / Kay, Cláudia Suemi Kamoi / Ducci, Renata Dal-Pra / Utiumi, Marco Antonio Takashi / Fustes, Otto Jesus Hernandez / Werneck, Lineu Cesar / Lorenzoni, Paulo José / Scola, Rosana Herminia

    Arquivos de neuro-psiquiatria

    2024  Volume 82, Issue 1, Page(s) 1–7

    Abstract: Background:   : Objective:  This study aims to describe the frequency and clinical and epidemiological characteristics of patients with triple-SN MG.: Methods:  This was a retrospective cross-sectional study carried out through the analysis of ... ...

    Title translation Miastenia gravis triplo-soronegativa: características clínicas e epidemiológicas.
    Abstract Background:  
    Objective:  This study aims to describe the frequency and clinical and epidemiological characteristics of patients with triple-SN MG.
    Methods:  This was a retrospective cross-sectional study carried out through the analysis of medical records. Descriptive and analytical statistical analysis was performed comparing subgroups of myasthenic patients, classified according to serological profile.
    Results:  The sample population consisted of 93 MG patients: 85 were positive for antibodies, 80 (86%) with AChR-Abs, 5 (5.4%) with MuSK-Abs, and no MG patients with LRP4-Abs. Eight patients (8.6%) had triple-SN MG; they had a median age at disease onset of 30 years (21-45). Their most common initial symptoms were ptosis, diplopia, and generalized weakness. Most patients presented with mild symptoms at their last visit, reflecting a median MG composite scale score of 4 (0-6), and 75% of patients had an adequate response to treatment.
    Conclusion:  Our study showed a low frequency of triple-SN MG in Brazilian MG patients. Triple-SN MG was predominant in females, who presented with ptosis, diplopia, and generalized weakness, and most patients had an adequate response to immunosuppressive treatment. There was no significant difference between triple-SN MG and the other subgroups.
    MeSH term(s) Female ; Humans ; Young Adult ; Adult ; Middle Aged ; Retrospective Studies ; Diplopia ; Cross-Sectional Studies ; Autoantibodies ; Receptor Protein-Tyrosine Kinases ; LDL-Receptor Related Proteins ; Myasthenia Gravis/diagnosis ; Myasthenia Gravis/drug therapy ; Myasthenia Gravis/epidemiology
    Chemical Substances Autoantibodies ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; LDL-Receptor Related Proteins
    Language English
    Publishing date 2024-02-05
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1055/s-0044-1779052
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Pain-related nociceptive evoked potential and skin wrinkle test in small fiber neuropathy.

    Hernández Fustes, Otto Jesus / Kay, Cláudia Suemi Kamoi / Lorenzoni, Paulo José / Ducci, Renata Dal-Prá / Ribas, Michelle Zonkowski / Werneck, Lineu Cesar / Scola, Rosana Herminia

    Arquivos de neuro-psiquiatria

    2022  Volume 80, Issue 5, Page(s) 545

    MeSH term(s) Evoked Potentials ; Humans ; Neuralgia/diagnosis ; Nociception ; Skin ; Small Fiber Neuropathy/diagnosis
    Language English
    Publishing date 2022-04-26
    Publishing country Germany
    Document type Editorial
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X-ANP-2021-0327
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.

    Lorenzoni, Paulo José / Kay, Cláudia Suemi Kamoi / Ducci, Renata Dal-Pra / Fustes, Otto Jesus Hernandez / Rodrigues, Paula Raquel do Vale Pascoal / Hrysay, Nyvia Milicio Coblinski / Arndt, Raquel Cristina / Werneck, Lineu Cesar / Scola, Rosana Herminia

    Arquivos de neuro-psiquiatria

    2023  Volume 81, Issue 10, Page(s) 922–933

    Abstract: Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes ... ...

    Title translation Experiência de um único centro em distrofia muscular de cinturas do tipo autossômica recessiva: série de casos e revisão de literatura.
    Abstract Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3-R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the
    MeSH term(s) Humans ; Anoctamins/genetics ; Brazil ; Muscle Weakness ; Muscular Dystrophies, Limb-Girdle/genetics ; Pentosyltransferases/genetics
    Chemical Substances 2,2,2',4'-tetrachloroacetophenone (O43MMI49GE) ; ANO5 protein, human ; Anoctamins ; FKRP protein, human (EC 2.4.2.-) ; Pentosyltransferases (EC 2.4.2.-)
    Language English
    Publishing date 2023-10-18
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1055/s-0043-1772833
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  8. Article ; Online: Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.

    Lorenzoni, Paulo José / Bayer, Dafne Luana / Ducci, Renata Dal-Prá / Fustes, Otto Jesus Hernandez / do Vale Pascoal Rodrigues, Paula Raquel / Werneck, Lineu Cesar / Kay, Cláudia Suemi Kamoi / Scola, Rosana Herminia

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 7, Page(s) 2551–2554

    Abstract: We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue fasciculation and atrophy, due to a mutation at serine 331 in the SPTLC1 gene. HSAN-1A manifestation ... ...

    Abstract We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue fasciculation and atrophy, due to a mutation at serine 331 in the SPTLC1 gene. HSAN-1A manifestation causing tongue fasciculation and atrophy have been rarely found. Our report adds to the growing evidence of the existence of an overlap between hereditary neuropathy and motor neuron disease caused by pathogenic p.S331Y variant in SPTLC1 gene.
    MeSH term(s) Humans ; Serine C-Palmitoyltransferase/genetics ; Fasciculation ; Phenotype ; Hereditary Sensory and Autonomic Neuropathies/diagnosis ; Hereditary Sensory and Autonomic Neuropathies/genetics ; Mutation/genetics ; Motor Neuron Disease/complications ; Motor Neuron Disease/genetics ; Atrophy
    Chemical Substances Serine C-Palmitoyltransferase (EC 2.3.1.50) ; SPTLC1 protein, human (EC 2.3.1.50)
    Language English
    Publishing date 2023-03-24
    Publishing country Italy
    Document type Case Reports ; Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-06763-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Reply.

    Werneck, Lineu Cesar / Lorenzoni, Paulo José / Ducci, Renata Dal-Prá / Fustes, Otto Hernández / Kay, Cláudia Suemi Kamoi / Scola, Rosana Herminia

    Arquivos de neuro-psiquiatria

    2020  Volume 78, Issue 5, Page(s) 315

    MeSH term(s) Humans ; Muscular Dystrophy, Duchenne
    Language English
    Publishing date 2020-05-29
    Publishing country Brazil
    Document type Journal Article ; Comment
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282x20200029
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  10. Article ; Online: Somatosensory evoked potentials in clinical practice: a review.

    Fustes, Otto Jesus Hernández / Kay, Cláudia Suemi Kamoi / Lorenzoni, Paulo José / Ducci, Renata Dal-Prá / Werneck, Lineu Cesar / Scola, Rosana Herminia

    Arquivos de neuro-psiquiatria

    2021  Volume 79, Issue 9, Page(s) 824–831

    Abstract: The authors present a review of the current use of somatosensory evoked potentials (SSEPs) in neurological practice as a non-invasive neurophysiological technique. For this purpose we have reviewed articles published in English or Portuguese in the ... ...

    Abstract The authors present a review of the current use of somatosensory evoked potentials (SSEPs) in neurological practice as a non-invasive neurophysiological technique. For this purpose we have reviewed articles published in English or Portuguese in the PubMed and LILACS databases. In this review, we address the role of SSEPs in neurological diseases that affect the central nervous system and the peripheral nervous system, especially in demyelinating diseases, for monitoring coma, trauma and the functioning of sensory pathways during surgical procedures. The latter, along with new areas of research, has become one of the most important applications of SSEPs.
    MeSH term(s) Evoked Potentials, Motor ; Evoked Potentials, Somatosensory ; Humans
    Language English
    Publishing date 2021-11-08
    Publishing country Brazil
    Document type Journal Article ; Review
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X-ANP-2020-0427
    Database MEDical Literature Analysis and Retrieval System OnLINE

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