Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

A test for comparing conditional ROC curves with multidimensional covariates.

The comparison of Receiver Operating Characteristic (ROC) curves is frequently used in the literature to compare the discriminatory capability of different classification procedures based on diagnostic variables. The performance of these variables can be sometimes influenced by the presence of other covariates, and thus they should be taken into account when making the comparison. A new non-parametric test is proposed here for testing the equality of two or more dependent ROC curves conditioned to the value of a multidimensional covariate. Projections are used for transforming the problem into a one-dimensional approach easier to handle. Simulations are carried out to study the practical performance of the new methodology. The procedure is then used to analyse a real data set of patients with Pleural Effusion to compare the diagnostic capability of different markers.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

[Epidemiology of myasthenia gravis in the Iberian Peninsula and Latin America]. / Epidemiología de la miastenia grave en la península ibérica y Latinoamérica.

INTRODUCTION: Although today we live in a globalised world, the ties established between the Iberian Peninsula and the countries of Latin America are particularly strong, with important migratory flows. This connection may condition the development of diseases that involve a genetic influence, which may in turn be modulated by various environmental factors. The aim of this review is to determine the descriptive epidemiology of myasthenia gravis in the Iberian Peninsula and in Latin America. DEVELOPMENT: A literature search was conducted in Medline, LILACS and Google Scholar for the different countries of interest using the terms 'prevalence', 'incidence', 'epidemiology' and 'myasthenia gravis'. The methodology and quality were reviewed, and descriptive data about the study population as well as data on prevalence were extracted. CONCLUSIONS: Many countries lack epidemiological studies on myasthenia gravis and in others the data reported focus on one referral hospital, making it difficult to compare prevalence between countries. In the Iberian Peninsula, the prevalence is consistently above 100 cases x 106 inhabitants, the highest figures being found in the area of Osona (Barcelona) and in the province of Ourense. In Latin America, much lower prevalence figures are reported, generally below 100 x 106 inhabitants. There is a predominance of females in the early-onset forms (<50 years) and a clear increase in prevalence in the elderly population, especially in the very late onset forms (>65 years), where it is more frequent in men.

TITLE: Epidemiología de la miastenia grave en la península ibérica y Latinoamérica.Introducción. Aunque hoy en día vivimos en un mundo globalizado, los vínculos establecidos entre la península ibérica y los países de Latinoamérica son especialmente fuertes y con importantes flujos migratorios. Esta conexión puede condicionar la presentación de enfermedades que reconozcan una influencia genética, la cual puede ser modulada por diversos factores medioambientales. El objetivo de esta revisión es conocer la epidemiología descriptiva de la miastenia grave en la península ibérica y en Latinoamérica. Desarrollo. Se realizó una búsqueda bibliográfica en Medline, en LILACS y en Google Scholar para los diferentes países de interés con los términos 'prevalence', 'incidence', 'epidemiology' y 'myasthenia gravis'. Se revisó la metodología y la calidad, y se extrajeron datos descriptivos de la población estudiada, así como los datos de prevalencia. Conclusiones. Muchos países carecen de estudios epidemiológicos sobre la miastenia grave, y en otros, los datos comunicados se centran en un hospital de referencia, lo que hace difícil la comparación de la prevalencia entre los diferentes países. En la península ibérica, la prevalencia es constantemente superior a 100 casos × 106 habitantes, con las cifras más altas correspondientes a la comarca de Osona (Barcelona) y a la provincia de Ourense. En Latinoamérica se registran cifras mucho menores de prevalencia, generalmente inferiores a 100 × 106 habitantes. Se constata un predominio femenino en las formas de inicio precoz (<50 años) y un claro aumento de la prevalencia en la población anciana, sobre todo en las formas de inicio muy tardío (>65 años), en las que es más frecuente en los varones.

Epidemiología de la miastenia grave en la península ibérica y Latinoamérica / Epidemiology of myasthenia gravis in the Iberian Peninsula and Latin America

Introducción: Aunque hoy en día vivimos en un mundo globalizado, los vínculos establecidos entre la península ibérica y los países de Latinoamérica son especialmente fuertes y con importantes flujos migratorios. Esta conexión puede condicionar la presentación de enfermedades que reconozcan una influencia genética, la cual puede ser modulada por diversos factores medioambientales. El objetivo de esta revisión es conocer la epidemiología descriptiva de la miastenia grave en la península ibérica y en Latinoamérica. Desarrollo: Se realizó una búsqueda bibliográfica en Medline, en LILACS y en Google Scholar para los diferentes países de interés con los términos ‘prevalence’, ‘incidence’, ‘epidemiology’ y ‘myasthenia gravis’. Se revisó la metodología y la calidad, y se extrajeron datos descriptivos de la población estudiada, así como los datos de prevalencia. Conclusiones: Muchos países carecen de estudios epidemiológicos sobre la miastenia grave, y en otros, los datos comunicados se centran en un hospital de referencia, lo que hace difícil la comparación de la prevalencia entre los diferentes países. En la península ibérica, la prevalencia es constantemente superior a 100 casos × 106 habitantes, con las cifras más altas correspondientes a la comarca de Osona (Barcelona) y a la provincia de Ourense. En Latinoamérica se registran cifras mucho menores de prevalencia, generalmente inferiores a 100 × 106 habitantes. Se constata un predominio femenino en las formas de inicio precoz (<50 años) y un claro aumento de la prevalencia en la población anciana, sobre todo en las formas de inicio muy tardío (>65 años), en las que es más frecuente en los varones.(AU)

Introduction: Although today we live in a globalised world, the ties established between the Iberian Peninsula and the countries of Latin America are particularly strong, with important migratory flows. This connection may condition the development of diseases that involve a genetic influence, which may in turn be modulated by various environmental factors. The aim of this review is to determine the descriptive epidemiology of myasthenia gravis in the Iberian Peninsula and in Latin America. Development: A literature search was conducted in Medline, LILACS and Google Scholar for the different countries of interest using the terms ‘prevalence’, ‘incidence’, ‘epidemiology’ and ‘myasthenia gravis’. The methodology and quality were reviewed, and descriptive data about the study population as well as data on prevalence were extracted. Conclusions: Many countries lack epidemiological studies on myasthenia gravis and in others the data reported focus on one referral hospital, making it difficult to compare prevalence between countries. In the Iberian Peninsula, the prevalence is consistently above 100 cases × 106 inhabitants, the highest figures being found in the area of Osona (Barcelona) and in the province of Ourense. In Latin America, much lower prevalence figures are reported, generally below 100 × 106 inhabitants. There is a predominance of females in the early-onset forms (<50 years) and a clear increase in prevalence in the elderly population, especially in the very late onset forms (>65 years), where it is more frequent in men.(AU)

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study. / Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

[Treatment of neuropathic pain in neurology units. The PREVADOL study]. / Tratamiento del dolor neuropático en las consultas de neurología. Estudio PREVADOL.

INTRODUCTION: Neuropathic pain (NPP) is defined as a pain started or caused by an injury to or dysfunction of the nervous system. Its treatment is different to that of nociceptive pain since it does not respond to conventional analgesics or non-steroidal antiinflammatory drugs. AIM: To describe the treatment being received by patients with NPP in the daily clinical practice of the specialist in neurology. PATIENTS AND METHODS: An observational, epidemiological, cross-sectional study was conducted in 36 neurology units (24 extra-hospital and 12 belonging to hospitals). We collected the clinical data and the treatment administered to the first 20 patients with NPP to visit the neurology units over a period of 20 consecutive working days. RESULTS: Data were collected for a total of 451 patients with NPP. The pharmacological groups most frequently used in patients with NPP attended in neurology units are antiepileptics (71%) and antidepressants (15%). Of these patients, 60% were being treated with a single drug (an antiepileptic agent in 84.5% of cases; antidepressants in 10.3%). Two pharmacological treatments were being received by 23.7%, and 2.3% of patients were given treatment involving three or more pharmacological agents. A total of 30% received non-pharmacological treatments, especially physiotherapy (50.4%). CONCLUSIONS: Most patients with NPP attended in neurology units follow first-order pharmacological treatments (antiepileptics or antidepressants). Over half the patients are controlled with monotherapy, usually with an antiepileptic agent. Non-pharmacological treatments (especially physiotherapy) are used in a third of the patients.

[Epidemiological study of prevalence, incidence and neuropathic pain characterization in neurology units. PREVADOL study]. / Estudio de prevalencia, incidencia y caracterización del dolor neuropático en consultas de neurología. Estudio PREVADOL.

INTRODUCTION: Neuropathic pain is defined as a pain initiated or caused by a lesion or dysfunction in the nervous system. The objectives of the study were to estimate the prevalence and incidence of neuropathic pain in hospital neurology units and primary care centres, to characterize the clinical profile of the patient with neuropathic pain and to know the most frequent treatments in the pharmacological management of this type of pain. METHODS: Observational, cross-sectional epidemiological survey carried out in 36 Neurology Units of the national territory (24 primary care centres and 12 hospitals). During 20 consecutive days neurologists collected the diagnoses of all the attended patients by any reason, up to 30 patients/day. In parallel the 20 first consecutive patients with neuropathic pain were chosen for their characterization in depth by means of a specific questionnaire. RESULTS: A total of 12,688 patients were attended and a total of 13,555 diagnoses were collected through 713 consultation days. The most frequent diagnosis was migraine/cephalea, with a prevalence of 23.40% (95% CI: 22.66%-24.14%). Neuropathic pain represented the eighth more frequent diagnosis, with a prevalence in neurology units of 3.88% (95% CI: 3.54%- 4.22%). The prevalence of neuropathic pain was 2.92% in primary care centres and 6.09% in hospital units (p < 0.01). The daily incidence of new neuropathic pain cases was 1.24% (95% CI: 1.05%-1.53%); 1.14% in primary care neurology centres and 1.45% in hospital units. CONCLUSIONS: The data obtained indicate that neuropathic pain is the eighth more frequent diagnosis in the neurology units. Medical assistance request by neuropathic pain is higher in the hospital units.

Estudio de prevalencia, incidencia y caracterización del dolor neuropático en consultas de neurología. Estudio PREVADOL / Epidemiological study of prevalence, incidence and neuropathic pain characterization in neurology units. PREVADOL study

Introducción. El dolor neuropático (DNP) se define como un dolor iniciado o causado por una lesión o disfunción del sistema nervioso. Los objetivos del estudio fueron estimar la prevalencia e incidencia de DNP en consultas de neurología hospitalarias y extrahospitalarias, caracterizar el perfil del paciente con DNP y conocer los tratamientos más utilizados en el manejo farmacológico de este tipo de dolor. Métodos. Se realizó un estudio observacional, epidemiológico y transversal, en 36 consultas de neurología del territorio nacional (24 extrahospitalarias y 12 hospitalarias). Durante 20 días consecutivos se recogieron los diagnósticos de los pacientes que acudieron a consulta por cualquier motivo, hasta un máximo de 30 pacientes/día. Paralelamente se eligieron los primeros 20 pacientes consecutivos que presentaban DNP, para su caracterización en profundidad mediante un cuestionario específico. Resultados. Se recogieron 13.555 diagnósticos de un total de 12.688 pacientes atendidos en 713 días de consulta. El diagnóstico más frecuente fue migrañas/cefaleas, con una prevalencia del 23,40% (IC 95%: 22,66-24,14%). El DNP representó el octavo diagnóstico más frecuente, con una prevalencia en consultas de neurología del 3,88 % (lC 95 %: 3,544,22%). La prevalencia de DNP fue del 2,92 % en consultas extrahospitalarias y del 6,09 % en consultas hospitalarias (p < 0,01). La incidencia diaria de casos nuevos de DNP se situó en el 1,24% (lC 95%: 1,05-1,53 %); 1,14% en consultas de neurología extrahospitalarias y 1,45% en consultas hospitalarias. Conclusiones. Los datos obtenidos indican que el DNP es el octavo diagnóstico más frecuente en las consultas de neurología. La demanda asistencial por DNP es más elevada en las consultas hospitalarias

Introduction. Neuropathic pain is defined as a pain initiated or caused by a lesion or dysfunction in the nervous system. The objectives of the study were to estimate the prevalence and incidence of neuropathic pain in hospital neurology units and primary care centres, to characterize the clinical profile of the patient with neuropathic pain and to know the most frequent treatments in the pharmacological management of this type of pain. Methods. Observational, cross-sectional epidemiological survey carried out in 36 Neurology Units of the national territory (24 primary care centres and 12 hospitals). During 20 consecutive days neurologists collected the diagnoses of all the attended patients by any reason, up to 30 patients/day. In parallel the 20 first consecutive patients with neuropathic pain were chosen for their characterization in depth by means of a specific questionnaire. Results. A total of 12,688 patients were attended and a total of 13,555 diagnoses were collected through 713 consultation days. The most frequent diagnosis was migraine/cephalea, with a prevalence of 23.40 % (95 % Cl: 22.66 %-24.14 %). Neuropathic pain represented the eighth more frequent diagnosis, with a prevalence in neurology units of 3.88 O/o (95 % CI: 3.540/04.22 %). The prevalence of neuropathic pain was 2.92 % in primary care centres and 6.09 % in hospital units (p < 0.01). The daily incidence of new neuropathic pain cases was 1.24 % (95 % CI: 1.05 %-1.53 %); 1.14 % in primary care neurology centres and 1.45 % in hospital units. Conclusions. The data obtained indicate that neuropathic pain is the eighth more frequent diagnosis in the neurology units. Medical assistance request by neuropathic pain is higher in the hospital units