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1.
Muscle Nerve ; 67(5): 394-400, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36814082

RESUMO

INTRODUCTION/AIMS: Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is the most common form of Guillain-Barré syndrome (GBS) in Western countries. However, electrophysiological descriptions of changes in abnormalities suggestive of demyelination after an AIDP episode are rare. We aimed to describe the clinical and electrophysiological features of AIDP patients after the acute episode, to investigate changes in abnormalities suggestive of demyelination and to compare with electrophysiological features of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: We reviewed the clinical and electrophysiological characteristics of 61 patients followed at regular intervals after the AIDP episode. RESULTS: We detected early electrophysiological abnormalities from the first nerve conduction studies (NCS) performed before 3 wk. Abnormalities suggestive of demyelination worsened on subsequent examinations. This worsening continued after more than 3 mo of follow-up for some parameters. We also found the persistence of abnormalities suggestive of demyelination for long periods after the acute episode, beyond 18 mo of follow-up, despite clinical improvement in most patients. DISCUSSION: In AIDP, NCS findings continue to worsen several weeks or even months after the onset of symptoms, and "CIDP-like" abnormalities suggestive of demyelination may persist for a long period of time, in contrast to the existing literature and the usually favorable clinical course. Thus, the discovery of conduction abnormalities on NCS performed long after an AIDP should always be interpreted according to the clinical context and not systematically lead to a diagnosis of CIDP.


Assuntos
Síndrome de Guillain-Barré , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Síndrome de Guillain-Barré/diagnóstico , Estudos Retrospectivos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Condução Nervosa/fisiologia , Estudos de Condução Nervosa
2.
Muscle Nerve ; 2018 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-29315669

RESUMO

INTRODUCTION: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically. METHODS: We prospectively included 58 GBS patients. Electrodiagnostic testing (EDX) was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal. Results were correlated with anti-ganglioside antibodies and reversible conduction failure (RCF). RESULTS: No classification shifts were observed, but more patients were classified as axonal with recent criteria. RCF and anti-ganglioside antibodies were present in both subtypes, more frequently in the axonal subtype. DISCUSSION: Serial EDX has no effect on GBS subtype proportions. The absence of exclusive correlation with RCF and anti-ganglioside antibodies may challenge the concept of demyelinating and axonal GBS subtypes based upon electrophysiological criteria. Frequent RCF indicates that nodal/paranodal alterations may represent the main pathophysiology. Muscle Nerve, 2018.

3.
J Peripher Nerv Syst ; 19(3): 218-23, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25403788

RESUMO

Thirty percent of Guillain-Barré syndrome (GBS) patients require mechanical ventilation (MV) in intensive care unit (ICU). Post-traumatic stress disorder (PTSD) is found in ICU survivors, and the traumatic aspects of intubation and MV have been previously reported as risk factors for PTSD after ICU. Our objective was to determine long-term PTSD or post-traumatic stress symptoms (PTSS) in GBS patients after prolonged MV in ICU. We assessed GBS patients who had MV for more than 2 months. PTSD was assessed using Horowitz Impact of Event Scale (IES), IES-Revisited (IES-R), and the Post-traumatic CheckList Scale; functional outcome using Rankin and Barthel scales; quality of life (QoL) using Nottingham Health Profile (NHP) and 36-Item Short Form Health Survey (SF-36) and depression using Hospital Anxiety and Depression Scale (HAD) and Beck questionnaire. Thirteen patients could be identified and analyzed. They had only mild disability. They were neither anxious nor depressed with an anxiety HAD at 5 (4-11.5), a depression HAD at 1 (0-3.5) and a Beck at 1 (0-5). QoL was mildly decreased in our population with a NHP at 78.5 (12.8-178.8) and mild decreased SF-36. Compared with the French population, the SF-36 sub-categories were, however, not statistically different. Twenty-two percentage of our 13 patients had PTSD and PTSS with a Horowitz IES at 12 (2-29), and an IES-R at 16 (2-34.5). Although severe GBS patients requiring prolonged MV had good functional recovery and no difference in QoL, they had a high incidence of PTSS.


Assuntos
Síndrome de Guillain-Barré/psicologia , Intubação Intratraqueal/psicologia , Sistema de Registros , Respiração Artificial/psicologia , Transtornos de Estresse Pós-Traumáticos/etiologia , Adulto , Idoso , Feminino , Síndrome de Guillain-Barré/terapia , Humanos , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Estudos Retrospectivos , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Fatores de Tempo , Resultado do Tratamento
4.
Neuromuscul Disord ; 30(10): 833-838, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32988710

RESUMO

Tenascin-X, is an extracellular matrix glycoprotein expressed in skin, muscle, tendons, and blood vessels with an anti-adhesive function. Biallelic Tenascin-X mutations cause classical-like Ehlers-Danlos syndrome. We report a 46-year-old woman with slowly progressive weakness of the lower limbs and myalgia from age 28 years. In the past she had Raynaud's phenomenon, multiple sprains and joint dislocations, conjunctival haemorrhages and a colonic perforation during colonoscopy. Neurologic examination showed moderate asymmetric proximal and axial muscular weakness, distal amyotrophy of 4 limbs, moderate skin hyperextensibility, and hypermobility of distal joints of fingers. Whole body Magnetic Resonance Imaging showed symmetric fatty infiltration of thigh and leg muscles, with predominant atrophy of thighs. Next Generation Sequencing revealed two pathogenic TNXB variants, g.32024681C>G, c.7826-1G>C, and g.32016181dup, c.9998dupA, p.(Asn3333Lysfs*35). Western Blot and immunofluorescence studies confirmed a marked Tenascin-X reduction in both patient's serum and muscle. Here we further detail the clinical and genetic spectrum of a patient with classical-like Ehlers-Danlos syndrome and prominent muscle involvement.


Assuntos
Progressão da Doença , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/fisiopatologia , Debilidade Muscular/fisiopatologia , Tenascina/genética , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Debilidade Muscular/diagnóstico , Debilidade Muscular/etiologia , Linhagem
5.
J Neuromuscul Dis ; 7(4): 443-451, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32925086

RESUMO

BACKGROUND: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia. OBJECTIVE: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients. METHODS: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included. P1 and P2, belonging to group 1, had normal muscle strength; Group 2, P3, P4 and P5, presented with muscular weakness. Muscle strength was measured by manual muscle testing, Medical Research Council (MRC) grades 1/5 to 5/5. Laboratory exams included serum CK levels, nerve conduction studies (NCS)/needle electromyography (EMG), pulmonary function tests, EKG and cardiac ultrasound. ANO5 molecular screening was performed with different approaches. RESULTS: Group 1 patients showed myalgias with hyperCKemia or isolated hyperCKemia. Group 2 patients presented with limb-girdle or proximo-distal muscular weakness. Serum CK levels ranged from 897 to 5000 UI/L. Muscle biopsy analysis in P4 and P5 showed subsarcolemmal mitochondrial aggregates. Electron microscopy confirmed mitochondrial proliferation and revealed discontinuity of the sarcolemmal membrane. Muscle MRI showed asymmetrical fibro-fatty substitution predominant in the lower limbs.P1 and P2 were compound heterozygous for c.191dupA (p.Asn64Lysfs*15) and c.1898 + G>A; P3 was homozygous for the c.692G>T. (p.Gly231Val); P4 harbored a novel biallelic homozygous exons 1-7 ANO5 gene deletion, and P5 was homozygous for a c.172 C > T (p.(Arg 58 Trp)) ANO5 pathogenic variant. CONCLUSIONS: Our cohort confirms the wide clinical variability and enlarge the genetic spectrum of ANO5-related myopathies.


Assuntos
Anoctaminas/genética , Creatina Quinase/sangue , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Adulto , Estudos de Coortes , Miopatias Distais/diagnóstico , Miopatias Distais/genética , França , Humanos , México , Debilidade Muscular/diagnóstico , Debilidade Muscular/fisiopatologia , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Mialgia/diagnóstico , Mialgia/fisiopatologia , Linhagem
6.
J Neurol ; 267(12): 3664-3672, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32676765

RESUMO

INTRODUCTION: IgG4 antibodies against neurofascin (Nfasc155 and Nfasc140/186), contactin (CNTN1) and contactin-associated protein (Caspr1) are described in specific subtypes of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our objective was to assess, in a real-life practice, the incidence, the clinical features and the response to treatment of these forms of CIDP. METHODS: 1500 sera of patients suspected of having CIDP from France, Belgium and Switzerland were prospectively tested using a flow cytometry technique. The characteristics of patients with antibodies against the node of Ranvier were compared to 100 seronegative CIDP from our department. RESULTS: IgG4 antibodies against Nfasc155, CNTN1, and Caspr1 were, respectively, detected in 15 (prevalence 1%), 10 (0.7%) and 2 (0.2%) sera. Antibodies specific of the Nfasc140/186 were not detected. All subjects with antibodies against the node of Ranvier fulfilled diagnostic criteria for CIDP. CIDP with anti-Nfasc155 were younger, had more sensory ataxia and postural tremor than seronegative CIDP. CIDP with anti-CNTN1 had more frequent subacute onset and facial paralysis, commoner renal involvement with membranous glomerulonephritis and greater disability, than seronegative CIDP. CIDP with anti-Caspr1 had more frequent respiratory failure and cranial nerve involvement but not more neuropathic pain than seronegative CIDP. Intravenous immunoglobulins were ineffective in most seropositive patients. Rituximab produced dramatic improvement in disability and decreased antibodies titres in 13 seropositive patients (8 with anti-Nfasc155 and 5 with anti-CNTN1 antibodies). CONCLUSIONS: Although rare, anti-paranodal antibodies are clinically valuable, because they are associated with specific phenotypes and therapeutic response.


Assuntos
Fatores de Crescimento Neural , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Autoanticorpos , Bélgica , Moléculas de Adesão Celular , França , Humanos , Incidência , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/epidemiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/terapia , Estudos Prospectivos , Suíça/epidemiologia
7.
Neuromuscul Disord ; 29(9): 678-683, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31474437

RESUMO

Emery-Dreifuss muscular dystrophy is an early-onset, slowly progressive myopathy characterized by the development of multiple contractures, muscle weakness and cardiac dysfunction. We present here the case of a 65-year-old male patient with a 20 year history of slowly progressive camptocormia, bradycardia and shortness of breath. Examination showed severe spine extensor and neck flexor muscle weakness with slight upper limb proximal weakness. Cardiologic assessment revealed slow atrial fibrillation. Whole body MRI demonstrated adipose substitution of the paravertebral, limb girdle and peroneal muscles as well as the tongue. Emerin immunohistochemistry on patient muscle biopsy revealed the absence of nuclear envelope labeling confirmed by Western Blot. Genetic analysis showed a hemizygous duplication of 5 bases in exon 6 of the EMD, emerin, gene on the X chromosome. This is an unusual presentation of X-linked Emery-Dreifuss muscular dystrophy with adult onset, predominant axial muscles involvement and minimal joint contractures. Diagnosis was prompted by the analysis of emerin on muscle biopsy.


Assuntos
Proteínas de Membrana/genética , Músculo Esquelético/diagnóstico por imagem , Distrofia Muscular de Emery-Dreifuss/genética , Proteínas Nucleares/genética , Idade de Início , Idoso , Fibrilação Atrial/fisiopatologia , Músculos do Dorso/diagnóstico por imagem , Bradicardia/fisiopatologia , Contratura/fisiopatologia , Músculo Deltoide/metabolismo , Músculo Deltoide/patologia , Dispneia/fisiopatologia , Músculos Isquiossurais/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculos da Mastigação/diagnóstico por imagem , Proteínas de Membrana/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Atrofia Muscular Espinal/fisiopatologia , Distrofia Muscular de Emery-Dreifuss/diagnóstico por imagem , Distrofia Muscular de Emery-Dreifuss/patologia , Distrofia Muscular de Emery-Dreifuss/fisiopatologia , Proteínas Nucleares/metabolismo , Índice de Gravidade de Doença , Curvaturas da Coluna Vertebral/fisiopatologia
8.
Geriatr Psychol Neuropsychiatr Vieil ; 16(4): 409-413, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30563801

RESUMO

Neuropathies are very common in the population over 65 years old and their prevalence increases with age. The prevalence of polyneuropathies is about 7% in the elderly. However, other possible neuropathies should not be overlooked. Diabetes mellitus is the first cause of neuropathy in the world. Beyond 80 years-old, the risk of finding no etiology is about 40% but it implies a minimum initial explorations. A vitamin deficiency, a dysimmune or even hereditary cause should be eliminated in the elderly subject, keeping in mind the characteristics of age. We propose a review of the different forms of neuropathies by emphasizing the clinical or electrophysiological particularities of the elderly.


Assuntos
Envelhecimento , Doenças do Sistema Nervoso Periférico/epidemiologia , Doenças do Sistema Nervoso Periférico/terapia , Idoso , Idoso de 80 Anos ou mais , Feminino , Geriatria , Humanos , Masculino , Prevalência
9.
J Neurol ; 263(9): 1761-70, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27314957

RESUMO

To report the frequency of the different patterns of sensory and motor electrophysiological demyelination distribution in patients with anti-MAG neuropathy in comparison with patients with IgM neuropathy without MAG reactivity (IgM-NP). Thirty-five anti-MAG patients at early disease stage (20.1 months) were compared to 23 patients with IgM-NP; 21 CIDP patients and 13 patients with CMT1a neuropathy were used as gold standard neuropathies with multifocal and homogeneous demyelination, respectively. In all groups, standard motor and sensory electrophysiological parameters, terminal latency index and modified F ratio were investigated. Motor electrophysiological demyelination was divided in four profiles: distal, homogeneous, proximal, and proximo-distal. Distal sensory and sensorimotor demyelination were evaluated. Anti-MAG neuropathy is a demyelinating neuropathy in 91 % of cases. In the upper limbs, reduced TLI is more frequent in anti-MAG neuropathy, compared to IgM-NP. But, predominant distal demyelination of the median nerve is encountered in only 43 % of anti-MAG neuropathy and is also common in IgM-NP (35 %). Homogeneous demyelination was the second most frequent pattern (31 %). Concordance of electrophysiological profiles across motor nerves trunks is low and median nerve is the main site of distal motor conduction slowing. Reduced sensory conduction velocities occurs in 14 % of patients without evidence of predominant distal slowing. Simultaneous sensory and motor distal slowing was more common in the median nerve of anti-MAG neuropathy than IgM-NP. Electrophysiological distal motor demyelination and sensory demyelination are not a distinctive feature of anti-MAG reactivity. In anti-MAG neuropathy it is mainly found in the median nerve suggesting a frequent nerve compression at wrist.


Assuntos
Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/fisiopatologia , Nervos Periféricos/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Idoso , Autoanticorpos/sangue , Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/complicações , Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/diagnóstico , Progressão da Doença , Feminino , Humanos , Imunoglobulina M/sangue , Masculino , Condução Nervosa , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Fenótipo , Estudos Retrospectivos
10.
Neurology ; 80(7): 662-9, 2013 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-23345633

RESUMO

OBJECTIVE: Our aim was to investigate the relationship of carotid structure and function with MRI markers of cerebral ischemic small-vessel disease. METHODS: The study comprised 1,800 participants (aged 72.5 ± 4.1 years, 59.4% women) from the 3C-Dijon Study, a population-based, prospective cohort study, who had undergone quantitative brain MRI and carotid ultrasound. We used multivariable logistic and linear regression adjusted for age, sex, and vascular risk factors. RESULTS: Presence of carotid plaque and increasing carotid lumen diameter (but not common carotid artery intima-media thickness) were associated with higher prevalence of lacunar infarcts: odds ratio (OR) = 1.60 (95% confidence interval [CI]: 1.09-2.35), p = 0.02 and OR = 1.24 (95% CI: 1.02-1.50), p = 0.03 (by SD increase). Carotid plaque was also associated with large white matter hyperintensity volume (WMHV) (age-specific top quartile of WMHV distribution): OR = 1.32 (95% CI: 1.04-1.67), p = 0.02, independently of vascular risk factors. Increasing Young elastic modulus and higher circumferential wall stress, reflecting augmented carotid stiffness, were associated with increasing WMHV (effect estimate [ß] ± standard error: 0.0003 ± 0.0001, p = 0.024; ß ± standard error: 0.005 ± 0.002, p = 0.008). Large WMHV was also associated with increasing Young elastic modulus (OR = 1.22 [95% CI: 1.04-1.42], p = 0.01) and with decreasing distensibility coefficient (OR = 0.83 [95% CI: 0.69-0.99], p = 0.04), independently of vascular risk factors. Associations of carotid lumen diameter with lacunar infarcts and of carotid stiffness markers with WMHV were independent of carotid plaque. CONCLUSIONS: In addition to and independently of carotid plaque, increasing carotid lumen diameter and markers of carotid stiffness were associated with increasing prevalence of lacunar infarcts and increasing WMHV, respectively.


Assuntos
Encéfalo/patologia , Artéria Carótida Primitiva/patologia , Doenças de Pequenos Vasos Cerebrais/patologia , Idoso , Idoso de 80 Anos ou mais , Artéria Carótida Primitiva/diagnóstico por imagem , Espessura Intima-Media Carotídea , Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem , Estudos de Coortes , Planejamento em Saúde Comunitária , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Fibras Nervosas Mielinizadas/patologia , Razão de Chances , Estudos Retrospectivos , Fatores de Risco
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