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1.
Rev Neurol (Paris) ; 180(9): 971-981, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39379218

RESUMO

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disorder characterized by muscle weakness and fatigue. The disease is primarily caused by antibodies targeting acetylcholine receptors (AChR) and muscle-specific kinase (MuSK) proteins at the neuromuscular junction. Traditional treatments for MG, such as acetylcholinesterase inhibitors, corticosteroids, and immunosuppressants, have shown efficacy but are often associated with significant long-term side effects and variable patient response rates. Notably, approximately 15% of patients exhibit inadequate responses to these standard therapies. Recent advancements in molecular therapies, including monoclonal antibodies, B cell-depleting agents, complement inhibitors, Fc receptor antagonists, and chimeric antigen receptor (CAR) T cell-based therapies, have introduced promising alternatives for MG treatment. These novel therapeutic approaches offer potential improvements in targeting specific immune pathways involved in MG pathogenesis. This review highlights the progress and challenges in developing and implementing these molecular therapies. It discusses their mechanisms, efficacy, and the potential for personalized medicine in managing MG. The integration of new molecular therapies into clinical practice could significantly transform the treatment landscape of MG, offering more effective and tailored therapeutic options for patients who do not respond adequately to traditional treatments. These innovations underscore the importance of ongoing research and clinical trials to optimize therapeutic strategies and improve the quality of life for individuals with MG.


Assuntos
Miastenia Gravis , Miastenia Gravis/terapia , Miastenia Gravis/imunologia , Miastenia Gravis/tratamento farmacológico , Humanos , Imunossupressores/uso terapêutico , Inibidores da Colinesterase/uso terapêutico
2.
Rev Neurol (Paris) ; 180(7): 661-672, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38643028

RESUMO

OBJECTIVE: We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg. METHODS: Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance. RESULTS: Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients. CONCLUSION: In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.


Assuntos
Neuropatias Amiloides Familiares , Benzoxazóis , Humanos , Masculino , França/epidemiologia , Feminino , Pessoa de Meia-Idade , Idoso , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/tratamento farmacológico , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/epidemiologia , Estudos Transversais , Adulto , Benzoxazóis/uso terapêutico , Benzoxazóis/efeitos adversos , Idoso de 80 Anos ou mais , Pré-Albumina/genética
3.
Rev Neurol (Paris) ; 179(1-2): 35-48, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36588067

RESUMO

Charcot-Marie-Tooth (CMT) is a heterogeneous group of inherited neuropathies that affect the peripheral nerves and slowly cause progressive disability. Currently, there is no effective therapy. Patients' management is based on rehabilitation and occupational therapy, fatigue, and pain treatment with regular follow-up according to the severity of the disease. In the last three decades, much progress has been made to identify mutations involved in the different types of CMT, decipher the pathophysiology of the disease, and identify key genes and pathways that could be targeted to propose new therapeutic strategies. Genetic therapy is one of the fields of interest to silence genes such as PMP22 in CMT1A or to express GJB1 in CMT1X. Among the most promising molecules, inhibitors of the NRG-1 axis and modulators of UPR or the HDACs enzyme family could be used in different types of CMT.


Assuntos
Doença de Charcot-Marie-Tooth , Humanos , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/terapia , Mutação , Proteínas/genética , Nervos Periféricos
4.
Rev Neurol (Paris) ; 179(8): 914-922, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37019741

RESUMO

Treatment strategies in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) must be adapted on a case-to-case basis. Validated and reproducible tools for monitoring treatment response are required at diagnosis, when initiating treatment and throughout follow-up. A task force of French neurologists, experts in neuromuscular disease reference centers, was assembled to provide expert advice on the management of typical CIDP with intravenous immunoglobulins (Ig), and to harmonize treatment practices in public and private hospitals. The task force also referred to the practical experience of treating CIDP with Ig at the diagnostic, induction and follow-up stages, including the assessment and management of Ig dependence, and following the recommendations of the French health agency.


Assuntos
Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/terapia , Prova Pericial , Imunoglobulinas Intravenosas/uso terapêutico , França/epidemiologia
5.
Rev Neurol (Paris) ; 178(8): 780-787, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35863917

RESUMO

Functional muscle fiber denervation is a major contributor to the decline in physical function observed with aging and is now a recognized cause of sarcopenia, a muscle disorder characterized by progressive and generalized degenerative loss of skeletal muscle mass, quality, and strength. There is an interrelationship between muscle strength, motor unit (MU) number, and aging, which suggests that a portion of muscle weakness in seniors may be attributable to the loss of functional MUs. During normal aging, there is a time-related progression of MU loss, an adaptive sprouting followed by a maladaptive sprouting, and continuing recession of terminal Schwann cells leading to a reduced capacity for compensatory reinnervation in elders. In amyotrophic lateral sclerosis, increasing age at onset predicts worse survival ALS and it is possible that age-related depletion of the motor neuron pool may worsen motor neuron disease. MUNE methods are used to estimate the number of functional MU, data from MUNIX arguing for motor neuron loss with aging will be reviewed. Recently, a new MRI technique MU-MRI could be used to assess the MU recruitment or explore the activity of a single MU. This review presents published studies on the changes of neuromuscular function with aging, then focusing on these two novel techniques for assessment of MU loss and MU remodeling.


Assuntos
Esclerose Lateral Amiotrófica , Doença dos Neurônios Motores , Idoso , Envelhecimento/fisiologia , Esclerose Lateral Amiotrófica/diagnóstico , Eletromiografia/métodos , Humanos , Neurônios Motores/fisiologia , Músculo Esquelético
6.
Rev Neurol (Paris) ; 178(6): 616-623, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34872746

RESUMO

BACKGROUND: Growing numbers of indications for intravenous immunoglobulins (IVIg) in recent years has resulted in an increase in the consumption of these products. A lack of raw material has led to IVIg shortage. The objective of this work was to evaluate the impact of this situation on patient care in one French referral centre considering practice modifications and clinical impact. METHODS: All patients treated with IVIg for chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy and myasthenia gravis from October 2017 to October 2018 were included. RESULTS: Out of 142 patients, 111 (78%) had a modification of their IVIg treatment. We noted that 75 (68%) patients had a delay in IVIg treatment, 41 (37%) patients had a decrease in IVIg doses and 31 (28%) experienced IVIg treatment interruption. Thirty percent of patients for whom IVIg treatment was discontinued were switched to other treatments mainly plasma exchange (16%) or corticosteroids (13%). Switches to plasma exchange or corticosteroids were carried out in order to save immunoglobulins for patients who had no other alternatives. Fifty-eight (52%) patients presented a deterioration of their clinical score after IVIg treatment changes including 31 (28%) patients who had a moderate or a clinically significant deterioration. Concerning practice modifications, we noted a substantial though not significant decrease in median IVIg dose for myasthenia gravis and a significant increase in the delay between IVIg courses for chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy (P=0.011 and P=0.018 respectively). CONCLUSION: Our study showed a rather important number of changes in IVIg treatment related to IVIg shortage during the period considered. These changes had a negative impact on the clinical status of some patients.


Assuntos
Miastenia Gravis , Polineuropatias , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Corticosteroides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Miastenia Gravis/tratamento farmacológico , Polineuropatias/tratamento farmacológico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/tratamento farmacológico
7.
Rev Neurol (Paris) ; 177(6): 694-698, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33423807

RESUMO

Although they are common symptoms of ALS, there is little information on the prevalence of spasticity and spasticity-related pain. Consecutive patients were prospectively recruited from an ALS referral center. Clinical assessment, functional scores, features of spasticity-related pains has been recorded. In a cohort of 150 patients, 36% presented with spasticity. Spastic patients were younger, with a longer duration of disease. Spasticity accelerates the functional decline of patients. Spasticity-related pain was reported in 42.5% of spastic patients with mild pain. However, 16.7% of spastic patients presented significant pain with numeric rating scale≥4. More clinical trials are needed to treat spasticity more effectively and to relieve ALS patients.


Assuntos
Esclerose Lateral Amiotrófica , Espasticidade Muscular , Estudos de Coortes , Humanos , Dor , Prevalência
8.
Rev Neurol (Paris) ; 177(1-2): 100-106, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32718469

RESUMO

Intravenous immunoglobulins (IVIg) are commonly used for treatment of dysimmune diseases, but they are known to promote thrombotic events. The medical records of patients who received IVIg infusions to treat neuromuscular disorders were retrospectively studied during two periods: the on-demand period (May 2013-January 2015), when patients received anticoagulant prophylaxis based on personal thrombotic risk factors, and the systematic period (May 2015-January 2017), when patients received systematic anticoagulant prophylaxis. Of the 334 total patients included, 19/153 received anticoagulant prophylaxis in the on-demand period, and 181 were treated in the systematic period. In the on-demand period, thrombosis occurred in three patients (1.96%) as one central retinal artery occlusion, one pulmonary embolism, and one brachiocephalic vein thrombosis. In the systematic period, thrombosis occurred in two patients (1.1%), both as pulmonary embolisms. There was no statistical difference in thrombosis incidence between the periods (P=0.66). The only factor associated with thrombosis was splenectomy (20% versus 0.3% in patients without thrombosis, P=0.03). There were no adverse events due to thromboprophylaxis by low-molecular-weight heparin in either period. Systematic thromboprophylaxis did not significantly reduce the incidence of thrombosis versus thromboprophylaxis based on personal thrombotic risk.


Assuntos
Embolia Pulmonar , Tromboembolia Venosa , Anticoagulantes , Humanos , Imunoglobulinas Intravenosas , Embolia Pulmonar/prevenção & controle , Estudos Retrospectivos , Tromboembolia Venosa/prevenção & controle
9.
J Hum Genet ; 65(3): 313-323, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31852984

RESUMO

Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few years, with the occurrence of whole-exome sequencing (WES) or whole-genome sequencing (WGS), the molecular diagnosis rate has been improved by allowing the screening of more than 80 genes at one time. In CMT, except the recurrent PMP22 duplication accounting for about 60% of pathogenic variations, pathogenic copy number variations (CNVs) are rarely reported and only a few studies screening specifically CNVs have been performed. The aim of the present study was to screen for CNVs in the most prevalent genes associated with CMT in a cohort of 200 patients negative for the PMP22 duplication. CNVs were screened using the Exome Depth software on next generation sequencing (NGS) data obtained by targeted capture and sequencing of a panel of 81 CMT associated genes. Deleterious CNVs were identified in four patients (2%), in four genes: GDAP1, LRSAM1, GAN, and FGD4. All CNVs were confirmed by high-resolution oligonucleotide array Comparative Genomic Hybridization (aCGH) and/or quantitative PCR. By identifying four new CNVs in four different genes, we demonstrate that, although they are rare mutational events in CMT, CNVs might contribute significantly to mutational spectrum of Charcot-Marie-Tooth disease and should be searched in routine NGS diagnosis. This strategy increases the molecular diagnosis rate of patients with neuropathy.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Proteínas do Citoesqueleto/genética , Proteínas dos Microfilamentos/genética , Proteínas do Tecido Nervoso/genética , Ubiquitina-Proteína Ligases/genética , Adolescente , Adulto , Doença de Charcot-Marie-Tooth/patologia , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA/genética , Exoma/genética , Feminino , Predisposição Genética para Doença/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Sequenciamento do Exoma , Adulto Jovem
10.
Neuropathol Appl Neurobiol ; 46(6): 564-578, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32342993

RESUMO

AIMS: The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant inheritance. Our objective was to confirm the existence of autosomal dominant calpainopathies. METHODS: Through our activity as one of the reference centres for genetic diagnosis of calpainopathies in France and the resulting collaborations through the French National Network for Rare Neuromuscular Diseases (FILNEMUS), we identified four families harbouring the same CAPN3 heterozygous variant with supposedly autosomal dominant inheritance. RESULTS: We identified a novel dominantly inherited CAPN3 variant, c.1333G>A [p.(Gly445Arg)] in 14 affected patients from four unrelated families. The complementary phenotypic, functional and genetic findings correlate with an autosomal dominant inheritance in these families, emphasizing the existence of this novel transmission mode for calpainopathies. The mild phenotype associated with these autosomal dominant cases widens the phenotypic spectrum of calpainopathies and should therefore be considered in clinical practice. CONCLUSIONS: We confirm the existence of autosomal dominant calpainopathies as an entity beyond the cases related to the in-frame deletions c.643_663del21 and c.598_612del15, with the identification of a novel dominantly inherited and well-documented CAPN3 missense variant, c.1333G>A [p.(Gly445Arg)]. In addition to the consequences for genetic counselling, the confirmation of an autosomal dominant transmission mode for calpainopathies underlines the importance of re-assessing other myopathies for which the inheritance is considered as strictly autosomal recessive.


Assuntos
Calpaína/genética , Aberrações Cromossômicas , Proteínas Musculares/genética , Doenças Neuromusculares/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , França , Genes Dominantes/genética , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Fenótipo , Adulto Jovem
11.
Eur J Neurol ; 27(8): 1382-1389, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32391944

RESUMO

BACKGROUND AND PURPOSE: Nerve tissue alterations have rarely been quantified in Charcot-Marie-Tooth type 1A (CMT1A) patients. The aim of the present study was to quantitatively assess the magnetic resonance imaging (MRI) anomalies of the sciatic and tibial nerves in CMT1A disease using quantitative neurography MRI. It was also intended to seek for correlations with clinical variables. METHODS: Quantitative neurography MRI was used in order to assess differences in nerve volume, proton density and magnetization transfer ratio in the lower limbs of CMT1A patients and healthy controls. Disease severity was evaluated using the Charcot-Marie-Tooth Neuropathy Score version 2, Charcot-Marie-Tooth examination scores and Overall Neuropathy Limitations Scale scores. Electrophysiological measurements were performed in order to assess the compound motor action potential and the Motor Unit Number Index. Clinical impairment was evaluated using muscle strength measurements and Charcot-Marie-Tooth examination scores. RESULTS: A total of 32 CMT1A patients were enrolled and compared to 13 healthy subjects. The 3D nerve volume, magnetization transfer ratio and proton density were significantly different in CMT1A patients for the whole sciatic and tibial nerve volume. The sciatic nerve volume was significantly correlated with the whole set of clinical scores whereas no correlation was found between the tibial nerve volume and the clinical scores. CONCLUSION: Nerve injury could be quantified in vivo using quantitative neurography MRI and the corresponding biomarkers were correlated with clinical disability in CMT1A patients. The sensitivity of the selected metrics will have to be assessed through repeated measurements over time during longitudinal studies to evaluate structural nerve changes under treatment.


Assuntos
Doença de Charcot-Marie-Tooth , Doença de Charcot-Marie-Tooth/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Força Muscular , Nervo Isquiático/diagnóstico por imagem
12.
Rev Neurol (Paris) ; 176(6): 507-515, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32354651

RESUMO

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. A national strategy was adopted during a period of 1 to 2months concerning treatments usually administered in hospitalization. NM patients treated with steroid/immunosuppressants for a dysimmune pathology should continue all of their treatments in the absence of any manifestations suggestive of COVID-19. A frequently asked questions (FAQ) sheet has been compiled and updated on the FILNEMUS website. Various support systems for self-rehabilitation and guided exercises have been also provided on the website. In the context of NM diseases, particular attention must be paid to two experimental COVID-19 treatments, hydroxycholoroquine and azithromycin: risk of exacerbation of myasthenia gravis and QT prolongation in patients with pre-existing cardiac involvement. The unfavorable emergency context related to COVID-19 may specially affect the potential for intensive care admission (ICU) for people with NMD. In order to preserve the fairest medical decision, a multidisciplinary working group has listed the neuromuscular diseases with a good prognosis, usually eligible for resuscitation admission in ICU and, for other NM conditions, the positive criteria suggesting a good prognosis. Adaptation of the use of noninvasive ventilation (NIV) make it possible to limit nebulization and continue using NIV in ventilator-dependent patients.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Doenças Neuromusculares/terapia , Pandemias , Pneumonia Viral/epidemiologia , Antagonistas de Receptores de Angiotensina/uso terapêutico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Antibacterianos/uso terapêutico , Antimaláricos/uso terapêutico , Azitromicina/uso terapêutico , COVID-19 , Aptidão Cardiorrespiratória , Infecções por Coronavirus/tratamento farmacológico , Tratamento de Emergência , França/epidemiologia , Doença de Depósito de Glicogênio Tipo II/terapia , Hospitalização , Humanos , Hidroxicloroquina/uso terapêutico , Doenças do Sistema Imunitário/terapia , Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressores/uso terapêutico , Atrofia Muscular Espinal/tratamento farmacológico , Oligonucleotídeos/uso terapêutico , Modalidades de Fisioterapia , Pneumonia Viral/tratamento farmacológico , Prognóstico , RNA Interferente Pequeno/uso terapêutico , SARS-CoV-2 , Esteroides/uso terapêutico , Suspensão de Tratamento , alfa-Glucosidases/uso terapêutico
13.
Rev Neurol (Paris) ; 175(1-2): 73-80, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30442448

RESUMO

INTRODUCTION: A retrospective analysis was performed to document the clinical and electrophysiological features of Guillain-Barré syndrome (GBS) subtypes using different diagnostic criteria. METHODS: One hundred GBS patients were included. Clinical and laboratory features were analyzed, and patients were classified according to four sets of diagnostic criteria. Electrodiagnostic criteria were also analyzed. RESULTS: A total of 69 patients met Asbury and Cornblath's criteria, 96 met Van der Meché's criteria, 99 met Wakerley's diagnostic classification and 86 met level 1 or 2 of the Brighton criteria. Rates of GBS subtypes were: 69% classic GBS; 8% Miller-Fisher syndrome; 12% paraparetic GBS; 2% pharyngeal-cervical-brachial GBS; and 9% unclassified. Those for electrodiagnostic subtypes were 52% demyelinating and 9% axonal according to Hadden's criteria vs 41% demyelinating and 41% axonal as per Rajabally's criteria. CONCLUSION: In this study of case distribution within the GBS spectrum of a retrospective cohort of French patients, the application of new diagnostic criteria enabled accurate diagnoses and classifications of the different subtypes, and also increased the recognition of axonal GBS.


Assuntos
Síndrome de Guillain-Barré/classificação , Síndrome de Guillain-Barré/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Eletrodiagnóstico , Eletrofisiologia , Feminino , Síndrome de Guillain-Barré/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Estudos Retrospectivos , Adulto Jovem
14.
Eur J Neurol ; 25(1): 135-141, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28906575

RESUMO

BACKGROUND AND PURPOSE: The frequency of pain and cramps is uncertain in anti-myelin associated glycoprotein antibody (anti-MAG) neuropathy. Whether these symptoms may affect function/quality of life is unknown. METHODS: A cross-sectional study of the prevalence, correlates and impact of pain, pain subtypes and cramps, their severity, frequency and anatomical distribution was performed for 55 clinically stable patients with anti-MAG neuropathy. RESULTS: Pain of any type was reported by 80% of subjects. The most common subtype was paraesthesiae and dysaesthesiae (70%). Cramps were reported by >60% of patients, with lower limb cramps in all and upper limb cramps in about 20%. Cramps affected daily activities in >30% of these subjects, sleep in 60%, ability to exercise in >30%. Total pain score correlated with several Short Form 36 health-related quality of life (SF-36 HR-QoL) measures (P < 0.05), with Inflammatory Rasch-built Overall Disability Scale (I-RODS) (P = 0.006) and 10-m timed walk (P = 0.019). An independent association was ascertained with I-RODS (P = 0.002). Different pain subtypes showed multiple associations with SF-36 HR-QoL measures and/or functional scales. Upper limb cramps had multiple SF-36 HR-QoL functional correlates, with an independent association with the Overall Neuropathy Limitation Score (ONLS) (P = 0.004). Cramp severity correlated with ONLS (P = 0.04) and I-RODS (P = 0.028) and inversely with level of physiotherapy input (P = 0.009). Cramp frequency was associated with tremor score (P = 0.004) and multiple SF-36 HR-QoL subsections. CONCLUSIONS: Neuropathic pain and cramps may affect function and quality of life in anti-MAG neuropathy. Optimizing treatments of these symptoms, including by adequate levels of physiotherapy, may be beneficial in affected patients and requires further research.


Assuntos
Cãibra Muscular/epidemiologia , Cãibra Muscular/etiologia , Glicoproteína Associada a Mielina/imunologia , Dor/epidemiologia , Dor/etiologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/epidemiologia , Idoso , Estudos Transversais , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Parestesia/epidemiologia , Parestesia/etiologia , Prevalência , Qualidade de Vida
15.
Acta Neurol Scand ; 137(3): 335-340, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29164611

RESUMO

OBJECTIVES: To assess the usefulness of serial electrophysiology in Guillain-Barré syndrome (GBS) in a multicenter setting and the reasons for change in electrodiagnostic subtypes with serial studies. METHODS: We retrospectively analysed serial electrophysiology of 51 patients with GBS from 4 European centres. Proportions of subtypes were determined at each timing. Individual case analyses were also performed where diagnostic changes occurred with either criteria, to ascertain if changes were due to disease progression or criteria inadequacy. RESULTS: At first study, comparing old vs new criteria, acute inflammatory demyelinating polyneuropathy (AIDP) was diagnosed in 70.6% vs 51%, axonal GBS in 15.7% vs 39.2%, equivocal forms in 11.8% vs 7.8%. At second study, AIDP was diagnosed in 72.5% vs 52.9%, axonal GBS in 9.8% vs 33.3%, equivocal forms in 15.7% vs 11.7%. Subtype proportions were unchanged, indicating serial studies did not, in the cohort, alter diagnostic rates for each subtype irrespective of criteria used. Individual review of cases where subtype electrodiagnosis changed indicated suboptimal specificity for AIDP/sensitivity for axonal GBS as main cause of diagnostic shifts with old criteria, whereas disease progression explained most changes with new criteria (55.6% vs 81.8%; P = .039). CONCLUSIONS: Serial electrophysiology is unhelpful in GBS. Repeat studies cannot represent the gold standard as electrodiagnosis may alter due to disease progression. Changes in electrodiagnosis relate more often to disease progression with new criteria but are more frequently due to suboptimal sensitivity/specificity with old criteria. A single electrophysiological study using the most accurate available criteria appears sufficient in GBS.


Assuntos
Eletrodiagnóstico/métodos , Síndrome de Guillain-Barré/diagnóstico , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Estudos Retrospectivos
16.
Rev Neurol (Paris) ; 173(5): 345-351, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28457490

RESUMO

Neuronal and/or axonal hyperactivity and hyperexcitability is an important feature of motor neuron diseases. It results clinically in cramps and fasciculations. It is not specific to motor neuron diseases, and can occur in healthy subjects, as well as in various pathologies of the peripheral nervous system, including nerve hyperexcitability syndromes. Hyperexcitability plays an important and debated role in the pathophysiology of motor neuron diseases, especially in amyotrophic lateral sclerosis (ALS). The mechanisms causing hyperexcitability are not yet clearly identified. While most studies favor a distal axonal origin site of fasciculations, some of the fasciculations could be of cortical origin. The consequences of hyperexcitability are also discussed, whether it is rather protective or deleterious in the disease course. Fasciculations are depicted both clinically and using electromyogram, and more recently the interest of ultrasound has been highlighted. The importance of fasciculation potentials in the diagnosis of ALS led to changes in electrophysiological criteria at Awaji consensus conference. The contribution of these modifications to ALS diagnosis has been the subject of several studies. In clinical practice, it is necessary to distinguish fasciculations potentials of motor neuron disease from benign fasciculations. In most studies of fasciculation potentials in ALS, the presence of complex fasciculation potentials appears to be relevant for the diagnosis and the prognosis of the disease.


Assuntos
Doença dos Neurônios Motores/fisiopatologia , Neurônios Motores , Eletromiografia , Fasciculação/etiologia , Fasciculação/fisiopatologia , Humanos , Doença dos Neurônios Motores/complicações , Cãibra Muscular/etiologia , Cãibra Muscular/fisiopatologia
18.
Rev Neurol (Paris) ; 173(10): 650-657, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28579207

RESUMO

BACKGROUND: Peripheral nerve system (PNS) involvement is common in Fabry's disease (FD), predominantly affecting the small nerve fibers that are difficult to investigate with conventional electrophysiological methods. PATIENTS AND METHODS: Eighteen patients followed for Fabry's disease underwent a prospective series of electroneurophysiological explorations, including a study of the cardiac parasympathetic autonomic nervous system (ANS) and electrochemical skin conductance (ESC) tests. Data were compared with those obtained in 18 matched healthy controls. RESULTS: All patients had at least one clinical sign suggestive of neuropathy: 16 reported an acrosyndrome and 12 had dyshidrosis. Cold hypoesthesia was found in 15 patients and heat hypoesthesia in 13. Electroneurophysiological investigations and study of the cardiac parasympathetic ANS were normal in all patients. The ESC was significantly lower in FD patients compared with controls. CONCLUSION: PNS involvement is common in FD and should be suspected in patients exhibiting an acrosyndrome, dyshidrosis and/or cold hypoesthesia. Conventional electrophysiological investigations are normal. New techniques, such as ESC, provide early diagnosis of small fiber involvement that currently requires more sophisticated tests difficult to apply in routine practice.


Assuntos
Doença de Fabry/complicações , Nervos Periféricos/fisiopatologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Adulto , Idoso , Estudos de Casos e Controles , Técnicas de Diagnóstico Neurológico , Fenômenos Eletrofisiológicos , Doença de Fabry/diagnóstico , Doença de Fabry/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
19.
Rev Neurol (Paris) ; 172(10): 566-571, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27663058

RESUMO

Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps) and abdominal muscles. Forearm muscles are usually spared and weakness is usually asymmetrical. Over the past few decades, muscle magnetic resonance imaging (MRI) has become established as a reliable and accurate noninvasive tool for the diagnosis and assessment of progression in neuromuscular diseases, showing specific patterns of muscle involvement for a number of myopathies. More recently, MRI has been used to noninvasively identify quantitative biomarkers, allowing evaluation of the natural progression of disease and assessment of therapeutic interventions. In the present review, the intention was to present the most significant MRI developments related to diagnosis and pattern recognition in FSHD and to discuss its capacity to provide outcome measures.


Assuntos
Imageamento por Ressonância Magnética/métodos , Músculo Esquelético/diagnóstico por imagem , Distrofia Muscular Facioescapuloumeral/diagnóstico por imagem , Humanos
20.
Rev Neurol (Paris) ; 172(3): 231-41, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27038534

RESUMO

INTRODUCTION: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation disorder responsible for neuromuscular symptoms in adults. This case series describes the clinical and biochemical features of 13 French patients with late-onset MADD. METHODS AND RESULTS: Thirteen ambulant patients (eight women, five men), with a median age at onset of 27 years, initially experienced exercise intolerance (n=9), isolated muscle weakness (n=1) and a multisystemic pattern with either central nervous system or hepatic dysfunction (n=3). During the worsening period, moderate rhabdomyolysis (n=5), a pseudomyasthenic pattern (n=5) and acute respiratory failure (n=1) have been observed. Weakness typically affected the proximal limbs and axial muscles, and there was sometimes facial asymmetry (n=3). Moderate respiratory insufficiency was noted in one case. Median baseline creatine kinase was 190IU/L. Lactacidemia was sometimes moderately increased at rest (3/10) and after exercise (1/3). The acylcarnitine profile was characteristic, with increases in all chain-length acylcarnitine species. Electromyography revealed a myogenic pattern, while muscle biopsy showed lipidosis, sometimes with COX-negative fibers (n=2). The mitochondrial respiratory chain was impaired in five cases, with coenzyme Q10 decreased in two cases. All patients harbored mutations in the ETFDH gene (four homozygous, seven compound heterozygous, two single heterozygous), with nine previously unidentified mutations. All patients were good responders to medical treatment, but exercise intolerance and/or muscular weakness persisted in 11 of them. CONCLUSION: Late-onset forms of MADD may present as atypical beta-oxidation disorders. Acylcarnitine profiling and muscle biopsy remain the most decisive investigations for assessing the diagnosis. These tests should thus probably be performed more widely, particularly in unexplained cases of neuromuscular and multisystemic disorders.


Assuntos
Erros Inatos do Metabolismo Lipídico/enzimologia , Erros Inatos do Metabolismo Lipídico/terapia , Deficiência Múltipla de Acil Coenzima A Desidrogenase/complicações , Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética , Doenças Neuromusculares/enzimologia , Doenças Neuromusculares/terapia , Adulto , Idade de Início , Biópsia , Carnitina/análogos & derivados , Carnitina/metabolismo , Eletromiografia , Flavoproteínas Transferidoras de Elétrons/genética , Exercício Físico , Feminino , França , Humanos , Proteínas Ferro-Enxofre/genética , Erros Inatos do Metabolismo Lipídico/genética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/enzimologia , Músculo Esquelético/patologia , Mutação/genética , Doenças Neuromusculares/genética , Oxirredução , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Rabdomiólise/etiologia , Adulto Jovem
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