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BACKGROUND: Recreational use of nitrous oxide (N2 O) has dramatically increased in recent years, resulting in numerous cases of acute sensorimotor tetraparesis secondary to nitrous oxide-induced neuropathy (N2 On). Challenging clinical features can mimic Guillain-Barré syndrome (GBS), the main differential diagnosis upon admission. The most sensitive biomarkers for distinguishing between these two conditions remain to be determined. METHODS: Fifty-eight N2 On patients from three referral centers were retrospectively included over a 2-year period and compared to GBS patients hospitalized during the same timeframe (47 patients). Collected demographic, clinical, biological, and electrophysiological data were compared between the two groups. RESULTS: The typical N2 On clinical pattern included distal sensorimotor deficit in lower limbs with absent reflexes, proprioceptive ataxia, and no cranial involvement (56.7% of our cohort). Misleading GBS-like presentations were found in 14 N2 On patients (24.1%), and 13 patients (22.4%) did not report N2 O use during initial interview. Only half the N2 On patients presented with reduced vitamin B12 serum levels upon admission. A slightly increased cut-off (<200 pmol/L) demonstrated 85.1% sensitivity and 84.5% specificity in distinguishing N2 On from GBS. Only 6.9% of N2 On patients met the criteria for primary demyelination (p < 0.01), with only one presenting conduction blocks. A diagnostic algorithm combining these two biomarkers successfully classified all GBS-like N2 On patients. CONCLUSIONS: Vitamin B12 serum level < 200 pmol/L cut-off and conduction blocks in initial electrophysiological study are the two most sensitive biomarkers for rapidly distinguishing N2 On from GBS patients. These two parameters are particularly useful in clinically atypical N2 On with GBS-like presentation.
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Síndrome de Guillain-Barré , Humanos , Síndrome de Guillain-Barré/inducido químicamente , Síndrome de Guillain-Barré/diagnóstico , Estudios Retrospectivos , Óxido Nitroso/efectos adversos , Biomarcadores , Vitamina B 12RESUMEN
Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale (UWDRS), the Writers' Cramp Rating Scale (WCRS), a specifically designed scale for handwriting difficulties in Wilson's disease patients (FAR, flow, accuracy, and rhythmicity evaluation), and a visual analog scale (VAS) for handwriting discomfort. No significant change in UWDRS, WCRS, VAS, or FAR scores was observed in patients treated with somatosensory inhibitory rTMS compared to the sham protocol. The FAR negatively correlated with UWDRS (r = -0.6; P = 0.02), but not with the WCRS score, disease duration, MRI diffusion lesions, or with atrophy scores. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.
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Trastornos Distónicos/etiología , Potenciales Evocados Somatosensoriales/fisiología , Mano/fisiopatología , Degeneración Hepatolenticular/complicaciones , Corteza Somatosensorial/fisiopatología , Estimulación Magnética Transcraneal , Adulto , Anciano , Estudios Cruzados , Método Doble Ciego , Trastornos Distónicos/diagnóstico por imagen , Electroencefalografía , Femenino , Degeneración Hepatolenticular/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Corteza Somatosensorial/diagnóstico por imagen , Escala Visual Analógica , EscrituraRESUMEN
BACKGROUND: Transthyretin amyloidosis is caused by the deposition of hepatocyte-derived transthyretin amyloid in peripheral nerves and the heart. A therapeutic approach mediated by RNA interference (RNAi) could reduce the production of transthyretin. METHODS: We identified a potent antitransthyretin small interfering RNA, which was encapsulated in two distinct first- and second-generation formulations of lipid nanoparticles, generating ALN-TTR01 and ALN-TTR02, respectively. Each formulation was studied in a single-dose, placebo-controlled phase 1 trial to assess safety and effect on transthyretin levels. We first evaluated ALN-TTR01 (at doses of 0.01 to 1.0 mg per kilogram of body weight) in 32 patients with transthyretin amyloidosis and then evaluated ALN-TTR02 (at doses of 0.01 to 0.5 mg per kilogram) in 17 healthy volunteers. RESULTS: Rapid, dose-dependent, and durable lowering of transthyretin levels was observed in the two trials. At a dose of 1.0 mg per kilogram, ALN-TTR01 suppressed transthyretin, with a mean reduction at day 7 of 38%, as compared with placebo (P=0.01); levels of mutant and nonmutant forms of transthyretin were lowered to a similar extent. For ALN-TTR02, the mean reductions in transthyretin levels at doses of 0.15 to 0.3 mg per kilogram ranged from 82.3 to 86.8%, with reductions of 56.6 to 67.1% at 28 days (P<0.001 for all comparisons). These reductions were shown to be RNAi-mediated. Mild-to-moderate infusion-related reactions occurred in 20.8% and 7.7% of participants receiving ALN-TTR01 and ALN-TTR02, respectively. CONCLUSIONS: ALN-TTR01 and ALN-TTR02 suppressed the production of both mutant and nonmutant forms of transthyretin, establishing proof of concept for RNAi therapy targeting messenger RNA transcribed from a disease-causing gene. (Funded by Alnylam Pharmaceuticals; ClinicalTrials.gov numbers, NCT01148953 and NCT01559077.).
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Neuropatías Amiloides Familiares/terapia , Prealbúmina/genética , ARN Interferente Pequeño/uso terapéutico , Adolescente , Adulto , Neuropatías Amiloides Familiares/genética , Animales , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Liposomas , Macaca fascicularis , Masculino , Nanocápsulas , Prealbúmina/metabolismo , ARN Interferente Pequeño/administración & dosificación , Adulto JovenRESUMEN
OBJECTIVE: To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. METHODS: We compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference Center from 1988 to 2010. Clinical examination, functional and walking disability scores, nerve conduction studies, and muscle biopsies are reported. We also conducted a comprehensive literature review to further determine the range of phenotypic expression. RESULTS: By comparison with Portuguese Val30Met FAP, French Ile107Val, Ser77Tyr, and LateVal30Met FAP showed more rapid and severe disease progression; onset of gait disorders was 3 times more rapid (p < 0.0001) and the rate of modified Norris test decline was up to 40 times faster in Ile107Val patients (p < 0.0001). Median survival was much shorter in Ile107Val and in Val30Met mutation with late onset (>50 years; LateMet30) FAP (p = 0.0005). Other distinctive features relative to the Portuguese patients included atypical clinical presentations, demyelination on nerve conduction studies (p = 0.0005), and difficult identification of amyloid deposits in nerve and muscle biopsies. INTERPRETATION: Ile107Val and LateMet30 mutations are associated with the most debilitating and severe FAP ever described, with rapid onset of tetraparesis and shorter median survival. It could be explained by frequent large-fiber involvement and associated demyelination and more severe axonal loss. These findings have major implications for genetic counseling and patient management as new therapeutic options are being assessed in clinical trials (TTR gene silencing).
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Neuropatías Amiloides Familiares/genética , Neuropatías Amiloides Familiares/fisiopatología , Progresión de la Enfermedad , Prealbúmina/genética , Prealbúmina/metabolismo , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Amiloide/genética , Neuropatías Amiloides Familiares/mortalidad , Femenino , Francia , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Portugal , Estudios RetrospectivosRESUMEN
INTRODUCTION: Many patients treated with intravenous immunoglobulin (IVIg) are >60 years of age. Tolerability has yet to be demonstrated in this age group. METHODS: This is a retrospective study of adverse reactions among consecutive patients treated with IVIg for neurological disorders. Risk factors were recorded. Correlation and relative risks were calculated for age, risk factors, IVIg course, daily dose, concentration, preparation, and duration of treatment. An infusion and monitoring protocol was applied. RESULTS: Two hundred forty-four patients were reviewed, including 62% who were ≥60 years of age (total dose 1.8 ± 0.4 g/kg body weight, daily dose 30.3 ± 2.0 g). Sixty-nine percent received sugar-stabilized IVIg. Forty-nine percent presented with >1 risk factor. Adverse reactions occurred in 35% and led to treatment discontinuation in 5%, with a similar incidence among age groups. In patients ≥60 years old, sucrose-free IVIg administration was an independent predictor of adverse reactions, including renal failure. CONCLUSION: In the elderly, IVIg infusions are safe. Adverse reactions mainly depend on IVIg preparation and administration. Renal failure is not uncommon with sugar-free IVIg.
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Lesión Renal Aguda/inducido químicamente , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/epidemiología , Cefalea/inducido químicamente , Hipertensión/inducido químicamente , Inmunoglobulinas Intravenosas/efectos adversos , Factores Inmunológicos/efectos adversos , Enfermedades Neuromusculares/tratamiento farmacológico , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Comorbilidad , Diabetes Mellitus/epidemiología , Erupciones por Medicamentos/etiología , Femenino , Síndrome de Guillain-Barré/tratamiento farmacológico , Síndrome de Guillain-Barré/epidemiología , Insuficiencia Cardíaca/epidemiología , Humanos , Hipertensión/epidemiología , Inmunoglobulinas Intravenosas/uso terapéutico , Factores Inmunológicos/uso terapéutico , Masculino , Persona de Mediana Edad , Miastenia Gravis/tratamiento farmacológico , Miastenia Gravis/epidemiología , Enfermedades Neuromusculares/epidemiología , Sobrepeso/epidemiología , Paraproteinemias/epidemiología , Enfermedades del Sistema Nervioso Periférico/tratamiento farmacológico , Enfermedades del Sistema Nervioso Periférico/epidemiología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/tratamiento farmacológico , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/epidemiología , Insuficiencia Renal Crónica/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Trombosis de la Vena/epidemiología , Adulto JovenRESUMEN
We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant ß(2)-microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type ß(2)-microglobulin, the affected members of this kindred had normal renal function and normal circulating ß(2)-microglobulin values. The Asp76Asn ß(2)-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of ß(2)-microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the ß(2)-microglobulin variant, including its 1.40-Å, three-dimensional structure, should allow further elucidation of fibrillogenesis and protein misfolding.
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Amiloidosis Familiar/genética , Microglobulina beta-2/genética , Amiloidosis Familiar/complicaciones , Diarrea/etiología , Femenino , Genes Dominantes , Humanos , Masculino , Persona de Mediana Edad , Linaje , Estructura Cuaternaria de Proteína , Proteoma/genética , Síndrome de Sjögren/complicaciones , Síndrome de Sjögren/genética , Microglobulina beta-2/químicaRESUMEN
Neuropathy is the most common complication of the peripheral nervous system during the progression of diabetes. The pathophysiology is unclear but may involve microangiopathy, reduced endoneurial blood flow, and tissue ischemia. We used a mouse model of type 1 diabetes to study parallel alterations of nerves and microvessels following tissue ischemia. We designed an easily reproducible model of ischemic neuropathy induced by irreversible ligation of the femoral artery. We studied the evolution of behavioral function, epineurial and endoneurial vessel impairment, and large nerve myelinated fiber as well as small cutaneous unmyelinated fiber impairment for 1 month following the onset of ischemia. We observed a more severe hindlimb dysfunction and delayed recovery in diabetic animals. This was associated with reduced density of large arteries in the hindlimb and reduced sciatic nerve epineurial blood flow. A reduction in sciatic nerve endoneurial capillary density was also observed, associated with a reduction in small unmyelinated epidermal fiber number and large myelinated sciatic nerve fiber dysfunction. Moreover, vascular recovery was delayed, and nerve dysfunction was still present in diabetic animals at day 28. This easily reproducible model provides clear insight into the evolution over time of the impact of ischemia on nerve and microvessel homeostasis in the setting of diabetes. © 2015 Wiley Periodicals, Inc.
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Diabetes Mellitus Experimental/patología , Diabetes Mellitus Experimental/fisiopatología , Arteria Femoral/fisiopatología , Recuperación de la Función/fisiología , Nervio Ciático/fisiopatología , Enfermedades Vasculares/fisiopatología , Análisis de Varianza , Angiografía , Animales , Antibióticos Antineoplásicos/toxicidad , Diabetes Mellitus Experimental/inducido químicamente , Modelos Animales de Enfermedad , Miembro Posterior/fisiopatología , Flujometría por Láser-Doppler , Ligadura/efectos adversos , Ratones , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Conducción Nerviosa/fisiología , Lectinas de Plantas/metabolismo , Nervio Ciático/irrigación sanguínea , Nervio Ciático/patología , Estreptozocina/toxicidad , Factores de Tiempo , Enfermedades Vasculares/etiologíaRESUMEN
OBJECTIVES: Acute confusional state (ACS) is a common cause of admission to the emergency department (ED). It can be related to numerous etiologies. Electroencephalography (EEG) can show specific abnormalities in cases of non-convulsive status epilepticus (NCSE), or metabolic or toxic encephalopathy. However, up to 80% of patients with a final diagnosis of NCSE have an ACS initially attributed to another cause. The exact place of EEG in the diagnostic work-up remains unclear. METHODS: Data of consecutive patients admitted to the ED for an ACS in a two-year period and who were referred for an EEG were collected. The initial working diagnosis was based on medical history, clinical, biological and imaging investigations allowing classification into four diagnostic categories. Comparison to the final diagnosis was performed after EEG recordings (and sometimes additional tests) were performed, which allowed the reclassification of some patients from one category to another. RESULTS: Seventy-five patients (mean age: 71.1 years) were included with the following suspected diagnoses: seizures for 8 (11%), encephalopathy for 14 (19%), other cause for 34 (45%) and unknown for 19 (25%). EEG was recorded after a mean of 1.5 days after symptom onset, and resulted in the reclassification of patients as follows: seizure for 15 (20%), encephalopathy for 15 (20%), other cause for 29 (39%) and unknown cause for 16 (21%). Moreover, ongoing epileptic activity (NCSE or seizure) and interictal epileptiform activity were found in eight (11%) patients initially diagnosed in another category. DISCUSSION: In our cohort, EEG was a key examination in the management strategy of ACS in 11% of patients admitted to the ED. It resulted in a diagnosis of epilepsy in these patients admitted with unusual confounding presentations.
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Confusión , Electroencefalografía , Servicio de Urgencia en Hospital , Humanos , Electroencefalografía/métodos , Masculino , Femenino , Anciano , Confusión/diagnóstico , Confusión/fisiopatología , Persona de Mediana Edad , Anciano de 80 o más Años , Adulto , Convulsiones/diagnóstico , Convulsiones/fisiopatología , Estado Epiléptico/diagnóstico , Estado Epiléptico/fisiopatología , Enfermedad AgudaRESUMEN
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare immune-mediated neuropathy for which there is no clearly identified risk factor. The present study identified rare variants in the FBXO38 gene in three familial cases of CIDP with response to corticosteroids in three generations with incomplete penetrance, and in an unrelated fourth case with diffuse nerve hypertrophy. FBXO38 may be involved in the regulation of the immunity mediated by CD8 T cells, which have an important role in CIDP pathophysiology, through PD1 degradation. Considering these findings, FBXO38 should be investigated as a potential genetic factor in larger cohorts of patients with CIDP.
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Proteínas F-Box , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas F-Box/genética , Linaje , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/genéticaRESUMEN
Background: Despite multimodal assessment (clinical examination, biology, brain MRI, electroencephalography, somatosensory evoked potentials, mismatch negativity at auditory evoked potentials), coma prognostic evaluation remains challenging. Methods: We present here a method to predict the return to consciousness and good neurological outcome based on classification of auditory evoked potentials obtained during an oddball paradigm. Data from event-related potentials (ERPs) were recorded noninvasively using four surface electroencephalography (EEG) electrodes in a cohort of 29 post-cardiac arrest comatose patients (between day 3 and day 6 following admission). We extracted retrospectively several EEG features (standard deviation and similarity for standard auditory stimulations and number of extrema and oscillations for deviant auditory stimulations) from the time responses in a window of few hundreds of milliseconds. The responses to the standard and the deviant auditory stimulations were thus considered independently. By combining these features, based on machine learning, we built a two-dimensional map to evaluate possible group clustering. Results: Analysis in two-dimensions of the present data revealed two separated clusters of patients with good versus bad neurological outcome. When favoring the highest specificity of our mathematical algorithms (0.91), we found a sensitivity of 0.83 and an accuracy of 0.90, maintained when calculation was performed using data from only one central electrode. Using Gaussian, K-neighborhood and SVM classifiers, we could predict the neurological outcome of post-anoxic comatose patients, the validity of the method being tested by a cross-validation procedure. Moreover, the same results were obtained with one single electrode (Cz). Conclusion: statistics of standard and deviant responses considered separately provide complementary and confirmatory predictions of the outcome of anoxic comatose patients, better assessed when combining these features on a two-dimensional statistical map. The benefit of this method compared to classical EEG and ERP predictors should be tested in a large prospective cohort. If validated, this method could provide an alternative tool to intensivists, to better evaluate neurological outcome and improve patient management, without neurophysiologist assistance.
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Several disabling symptoms potentially related to dysautonomia have been reported in "long-COVID" patients. Unfortunately, these symptoms are often nonspecific, and autonomic nervous system explorations are rarely performed in these patients. This study aimed to evaluate prospectively a cohort of long-COVID patients presenting severe disabling and non-relapsing symptoms of potential dysautonomia and to identify sensitive tests. Autonomic function was assessed by clinical examination, the Schirmer test; sudomotor evaluation, orthostatic blood pressure (BP) variation, 24-h ambulatory BP monitoring for sympathetic evaluation, and heart rate variation during orthostatism, deep breathing and Valsalva maneuvers for parasympathetic evaluation. Test results were considered abnormal if they reached the lower thresholds defined in publications and in our department. We also compared mean values for autonomic function tests between patients and age-matched controls. Sixteen patients (median age 37 years [31-43 years], 15 women) were included in this study and referred 14.5 months (median) [12.0-16.5 months] after initial infection. Nine had at least one positive SARS-CoV-2 RT-PCR or serology result. Symptoms after SARS-CoV-2 infection were severe, fluctuating and disabling with effort intolerance. Six patients (37.5%) had one or several abnormal test results, affecting the parasympathetic cardiac function in five of them (31%). Mean Valsalva score was significantly lower in patients than in controls. In this cohort of severely disabled long-COVID patients, 37.5% of them had at least one abnormal test result showing a possible contribution of dysautonomia to these nonspecific symptoms. Interestingly, mean values of the Valsalva test were significantly lower in patients than in control subjects, suggesting that normal values thresholds might not be appropriate in this population.
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COVID-19 , Disautonomías Primarias , Humanos , Femenino , Adulto , SARS-CoV-2 , Sistema Nervioso Autónomo , Disautonomías Primarias/diagnóstico , Fenómenos Fisiológicos Cardiovasculares , Frecuencia Cardíaca/fisiologíaRESUMEN
PURPOSE OF REVIEW: As amyloid neuropathies have benefited from recent major progress, this review is timely and relevant. RECENT FINDINGS: The main recent articles on amyloid neuropathy cover its description, methods for diagnosis and therapies. Varied clinical presentations are described in transthyretin (TTR)-familial amyloidosis with polyneuropathy (FAP) and light chain amyloid neuropathy. Mass spectrometry is able to identify the biochemical nature of amyloidogenic protein in nerve biopsy and skin biopsy samples for diagnosis of small fiber polyneuropathy. Both nerve biopsy and TTR gene sequencing are important to identify sporadic cases of amyloid neuropathy. Nerve biopsy is useful in demonstrating the amyloid origin of neuropathies developing after domino liver transplant recipients. Liver transplantation improves long-term survival in Met30 TTR-FAP. Factors recognized as leading to cardiomyopathy progression or heart involvement after liver transplantation are late disease onset and fibril composition. Combined heart and liver transplantation is recommended in severe restrictive cardiomyopathy. Antiamyloid drugs are emerging: tafamidis, a TTR stabilizer, showed in a phase III controlled study its ability to slow stage 1 FAP progression. Other strategies are emerging for TTR-FAP (combination doxycycline-tauroursodeoxycholic acid, small interfering RNA, antisense oligonucleotide, monoclonal antibody antiserum amyloid P component). For light chain neuropathy, intensive chemotherapy may be helpful. SUMMARY: There is better recognition of amyloid neuropathies, and hope for enrolling patients with FAP in future clinical trials testing new antiamyloid drugs.
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Neuropatías Amiloides/patología , Neuropatías Amiloides/diagnóstico , Neuropatías Amiloides/genética , Neuropatías Amiloides/terapia , Amiloidosis Familiar/diagnóstico , Amiloidosis Familiar/genética , Amiloidosis Familiar/patología , Animales , Enfermedades Endémicas , Humanos , Trasplante de Hígado , Prealbúmina/efectos de los fármacos , Prealbúmina/metabolismo , Prealbúmina/fisiologíaRESUMEN
OBJECTIVES: Recreational nitrous oxide (N2O) abuse is increasingly popular among youth. We report a systematic clinical, electrophysiological and biological follow-up of patients with neuropathy caused by N2O. METHODS: We retrospectively report seven patients with neuropathy attributed to N2O abuse and their comprehensive follow-up. Demographic, toxicological, clinical, biological and electrophysiological data were collected at first and second examination. Functional data were collected at the last evaluation. RESULTS: Seven patients aged 18-30, consuming more than 140 gas-filled balloons (one balloon is filled with approximately 8 g of N2O) per week for over a month, developed a severe, predominantly motor, length-dependent, progressive neuropathy over 3 to 6 weeks. Two-thirds presented associated signs of myelopathy. Distal lower limbs motor deficit and ataxia led to moderate disability. Spinal cord imaging was frequently normal. Nerve conduction studies disclosed an almost exclusively motor axonal neuropathy affecting the lower limbs with active denervation. Homocysteine plasma level was systematically elevated, whereas cobalamin plasma levels were normal in almost all patients. At short-term follow-up after intoxication discontinuation, ataxia and motor deficit only partially resolved despite vitamin B12 supplementation, while active denervation and homocysteinemia decreased. At last follow-up (median 9.2 months, IQR 7.5-10.75), mean ONLS was 2.0 (IQR 2.0-2.0). DISCUSSION: Young patients, with induced N2O motor neuropathy remain disabled after 5 to 14.5 months of gas withdrawal, despite vitamin B12 supplementation. A longer follow-up is needed to fully appraise the severity of these toxic neuropathies.
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Óxido Nitroso , Enfermedades del Sistema Nervioso Periférico , Adolescente , Ataxia , Estudios de Seguimiento , Humanos , Óxido Nitroso/efectos adversos , Estudios Retrospectivos , Vitamina B 12RESUMEN
OBJECTIVE: Differentiating transient ischemic attack from stroke mimics may be difficult. Besides clinical evaluation and brain imaging, electroencephalography (EEG) may be a useful diagnostic tool. METHODS: We conducted spectral analysis on 67 EEG of patients who had presented a transient neurological deficit (TND) within the previous seven days. Expert clinicians provided the final diagnosis: transient ischemic attack, migraine with aura, focal seizure or "other". We first calculated the relative power of the four EEG frequency bands (delta, theta, alpha and beta), in the whole hemisphere, then, according to the clinical symptoms, in the relevant electrodes of the symptomatic hemisphere. Finally, we calculated the relative power ratio between symptomatic and asymptomatic hemispheres. RESULTS: Median age was 60.6 years (57% females). The etiological diagnosis was transient ischemic attack (27%), migraine with aura (11%), focal seizures (22%) and "other" (40%). We did not find significant differences in the theta and delta relative power analysis between groups. Over the symptomatic hemisphere only, we found a significant increase of the alpha relative power (pâ¯=â¯0.0026, pâ¯<â¯0.0001, pâ¯=â¯0.0014) in the migraine group compared to transient ischemic attack, migraine and focal seizures groups, and a significant decrease of the beta relative power (pâ¯=â¯0.0034, pâ¯=â¯0.0016, pâ¯=â¯0.0005) compared to the same groups. CONCLUSIONS: Migraine with aura presents a discriminative EEG relative power in comparison to transient neurological deficits of other origins. To further investigate the additive diagnosis value of EEG in other TND, future studies should be performed with an EEG obtained within the first 24â¯h after the onset of symptoms. SIGNIFICANCE: Spectral EEG analysis discriminates migraine with aura groups from other groups, but not at the individual level.
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Ataque Isquémico Transitorio , Trastornos Migrañosos , Accidente Cerebrovascular , Encéfalo , Electroencefalografía , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: Intermittent photic stimulation (IPS) is an activation procedure performed during electroencephalography (EEG) to detect photosensitive patients. This procedure is recommended in routine EEGs but the benefit of IPS in the general population is not clearly ascertained. METHODS: We retrospectively analyzed 7683 EEGs of patients referred for a routine EEG to the Clinical Physiology Department of Lariboisière hospital, mainly from the emergency ward and the department of neurology, not specifically involved in epilepsy. All EEGs were performed with a standardized protocol. Photic driving response, photomyoclonic response and photoparoxysmal response (PPR) were specifically collected. A correlation analysis was performed between the response induced by IPS, demographical and clinical data, and current treatment or recreational drug use. RESULTS: Median age was 56.4 years (41.7-71.2); 3,042 (39.6%) of patients were female; 1,208 patients (15.7%) had a past medical history of epilepsy. Photic driving response occurred in 67 EEGs (0.9%), and PPR in 6 EEGs (0.1%), all with a known history of epilepsy. Thus 0.5% (6/1,208) of epilepsy patients had a PPR. Photomyoclonic responses were not observed. Juvenile myoclonic epilepsy was the only factor associated with the presence of PPR (RR=75.26 [11.82-479.21]). PPR was not associated with clinical symptoms or seizures. There was no correlation with the type of treatment or recreational drug use. CONCLUSIONS: Our results confirm that responses to IPS are rare in adult patients and especially PPR. Moreover, all patients with a PPR had a known previous history of epilepsy. These results question the benefit of IPS in adult patients with no history of epilepsy.
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Electroencefalografía , Epilepsia , Adulto , Femenino , Humanos , Persona de Mediana Edad , Estimulación Luminosa , Estudios Retrospectivos , ConvulsionesRESUMEN
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia have a strong clinical, genetic, and pathological connection but association of ALS with Alzheimer's disease (AD) is seldom reported. We report a series of 5 cases of AD associated with ALS. Our patients presented with cognitive deterioration with episodic memory impairment meeting criteria for AD. ALS occurred subsequently in all cases and its phenotype was not homogenous. Amyloid process was confirmed in four cases with cerebrospinal fluid biomarkers. One case underwent postmortem exam, demonstrating hallmarks lesions of both diseases. This series highlights that ALS-AD phenotype could be a specific underexplored entity.
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Enfermedad de Alzheimer/patología , Esclerosis Amiotrófica Lateral/patología , Biomarcadores/líquido cefalorraquídeo , Encéfalo/patología , Trastornos del Conocimiento/patología , Anciano , Anciano de 80 o más Años , Amiloide/líquido cefalorraquídeo , Femenino , Humanos , Masculino , Trastornos de la Memoria/patología , Pruebas Neuropsicológicas/estadística & datos numéricosRESUMEN
BACKGROUND: Orthostatic tremor (OT) is characterized by tremor in orthostatism. Primary OT is characterized by a high-frequency tremor at surface EMG recording and assumed to be idiopathic, whereas slow-frequency OT is classically associated with neurological pathologies. We report here a retrospective monocentric cohort study of primary (fast OT) and pseudo-OT (slow OT) patients to describe associated neurological and non-neurological co-morbidities. METHODS: Between November 2014 and October 2019, 27 patients with OT were selected from the EMG database of the Department of Clinical Physiology in Lariboisière' s hospital. Patients were classified in primary OT if tremor frequency was ≥ 13 Hz and in pseudo-OT if tremor frequency was < 13 Hz. RESULTS: Leg tremor on standing represented 10.2% of all tremor recordings. Ten patients were included in the primary and 17 in the pseudo-OT group. Females were predominant (62.9%) (p = 0.04). Mean age at diagnosis was 64.8 ± 1.1 years. At the first visit, a movement disorder was associated with 30% of primary OT, among them one CADASIL patient, whereas extrapyramidal or cerebellar disorders were reported in 100% of pseudo-OT, among them three Wilson's disease patients. These pathologies all preceded primary OT and occurred concomitantly with pseudo-OT. Frequency remained unchanged during evolution, except pseudo-OT in two patients that completely resolved following the introduction of antiParkinsonian drugs. Treatment of primary OT was partially effective in 28% and in 50% of pseudo-OT patients. CONCLUSION: In this monocentric study, movement disorders were present in 30% of primary OT patients. This result questions the term "idiopathic" or "primary" OT, but the small number of patients does not allow answering this issue.
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Mareo , Temblor , Estudios de Cohortes , Electromiografía , Femenino , Humanos , Morbilidad , Estudios Retrospectivos , Temblor/epidemiologíaRESUMEN
INTRODUCTION: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a debilitating autoimmune neuropathy that is treated with intravenous immunoglobulin (IVIG). The aim of this retrospective study was to investigate the efficacy and safety of the sucrose-free IVIG Octagam® (Octapharma AG, Lachen, Switzerland) in patients with CIDP. METHODS: Data from 47 patients who received at least one dose of Octagam were collected from the records of 11 centres in France. Efficacy was assessed using Overall Neuropathy Limitation Scale (ONLS). Safety was evaluated using adverse event rates. RESULTS: Data from 24 patients who were IVIG naïve (n = 11) or had stopped IVIG ≥ 12 weeks before initiation of Octagam therapy (washout group; n = 13) were included in the efficacy analysis. At 4 months post-initiation of Octagam treatment, 41.7% of patients had improved their functional status (decrease of ≥ 1 ONLS score) with a significant change in the ONLS score from baseline (- 0.42; p = 0.04; signed test). Functional status was reduced in only two patients: one patient in the IVIG-naïve group and one patient in the IVIG-washout group. All 47 patients were included in the safety analysis, which showed that Octagam was well tolerated, with a frequency of 0.04 adverse events per Octagam course. The most common adverse drug reaction was headache. CONCLUSIONS: These real-life results are consistent with the efficacy and safety of IVIG reported in randomised controlled studies. A long-term prospective study of Octagam in patients with CIDP is warranted. FUNDING: Octapharma, France SAS.