Consensus statement of the Spanish Society of Neurology on the treatment of multiple sclerosis and holistic patient management in 2023.

The last consensus statement of the Spanish Society of Neurology's Demyelinating Diseases Study Group on the treatment of multiple sclerosis (MS) was issued in 2016. Although many of the positions taken remain valid, there have been significant changes in the management and treatment of MS, both due to the approval of new drugs with different action mechanisms and due to the evolution of previously fixed concepts. This has enabled new approaches to specific situations such as pregnancy and vaccination, and the inclusion of new variables in clinical decision-making, such as the early use of high-efficacy disease-modifying therapies (DMT), consideration of the patient's perspective, and the use of such novel technologies as remote monitoring. In the light of these changes, this updated consensus statement, developed according to the Delphi method, seeks to reflect the new paradigm in the management of patients with MS, based on the available scientific evidence and the clinical expertise of the participants. The most significant recommendations are that immunomodulatory DMT be started in patients with radiologically isolated syndrome with persistent radiological activity, that patient perspectives be considered, and that the term "lines of therapy" no longer be used in the classification of DMTs (> 90% consensus). Following diagnosis of MS, the first DMT should be selected according to the presence/absence of factors of poor prognosis (whether epidemiological, clinical, radiological, or biomarkers) for the occurrence of new relapses or progression of disability; high-efficacy DMTs may be considered from disease onset.

Emergencias en trastornos del movimiento hipercinéticos / Hyperkinetic movement disorder emergencies

Introducción. Una emergencia en trastornos del movimiento es cualquier trastorno neurológico, de instauración aguda o subaguda, en el cual la principal manifestación clínica es un trastorno del movimiento primario, que persiste durante horas o días, y en el que cualquier fallo en el diagnóstico preciso o en el manejo del paciente puede dar lugar a una importante morbilidad o incluso mortalidad. Aunque son muy infrecuentes, es importante reconocer estos cuadros clínicos porque la gravedad de los síntomas y signos lleva a los pacientes a solicitar atención médica urgente. Desarrollo. Diferenciamos dos escenarios diferentes: el debut abrupto de un trastorno del movimiento o la exacerbación de un trastorno del movimiento ya existente. Es esencial realizar un diagnóstico sindrómico y etiológico precoces para poder llevar a cabo un manejo urgente adecuado. El espectro de causas posibles es muy amplio, pero es esencial recordar que la etiología farmacológica es muy frecuente y común a todas ellas. Conclusiones. La actitud general a seguir en un paciente que acude a urgencias por un trastorno del movimiento es indagar sobre el consumo de fármacos o drogas, preguntar sobre enfermedades neurológicas y psiquiátricas previas e intentar categorizar el trastorno del movimiento entre las diferentes entidades nosológicas. De cara al manejo en la urgencia, existen tres pilares fundamentales: tratamiento de soporte, tratamiento sintomático y, si es posible, tratamiento específico en función de la etiología (AU)

Introduction. A movement disorder emergency is any neurological disorder, either acute or subacute, in which the main clinical manifestation is a primary movement disorder that lasts for hours or days, and in which any inaccuracy in the diagnosis or in the management of the patient may give rise to an important morbidity or even mortality. Although they are very infrequent, it is important to recognise these clinical pictures because the severity of the symptoms and signs leads patients to seek urgent medical attention. Development. TTwo different scenarios can be distinguished: the abrupt onset of a movement disorder or the exacerbation of an already-existing movement disorder. It is essential to perform an early diagnosis of the syndromes and aetiology so as to be able to carry out adequate urgent management. There is a very wide spectrum of possible causes, but it is essential to remember that pharmacological causation is very frequent and common in all of them. Conclusions. The general stance to be taken when a patient visits A&E due to a movement disorder is to enquire about the consumption of drugs of abuse or medication, to ask about previous neurological and psychiatric diseases and to try to categorise the movement disorder among the different nosological conditions. Management in the emergency situation rests upon three fundamental pillars, namely, support treatment, symptomatic treatment and, if possible, specific treatment depending on the aetiology (AU)

Neuroimagen funcional en el estudio de los parkinsonismos: PET y SPECT / Functional neuroimaging in the study of parkinsonisms: PET and SPECT

Introducción. Las técnicas de neuroimagen estructural convencional (TC, RM) tienen una utilidad limitada en el diagnóstico del paciente parkinsoniano. Por el contrario, las exploraciones de Medicina Nuclear (PET y SPECT) pueden ser herramientas útiles para la evaluación de estos pacientes, ya que permiten el estudio de aspectos neuroquímicos y funcionales. Objetivo. Revisar el papel de la neuroimagen funcional con PET Y SPECT en el estudio del sistema nigroestriatal y otras funciones cerebrales, con especial hincapié en el SPECT cerebral de transportadores de dopamina con I123-ioflupano, y su utilidad en el diagnóstico diferencial de la enfermedad de Parkinson y otros parkinsonismos. Conclusiones. El estudio de la función nigro-estriatal y de otros sistemas no dopaminérgicos es útil para el diagnóstico temprano de la enfermedad de Parkinson, incluso en fase promotora; para su diferenciación del temblor esencial, de otros parkinsonismos no degenerativos (psicógeno, farmacológico, vascular) y de parkinsonismos atípicos (atrofia multisistema, parálisis supranuclear progresiva, degeneración corticobasal); y para distinguir la enfermedad de Alzheimer de la demencia por cuerpos de Lewy. Otras pruebas y radiotrazadores, para diferentes moléculas-mecanismos que ocurren en la enfermedad de Parkinson y otros parkinsonismos, están en desarrollo y podrían servir tanto para afinar más en el diagnóstico como para comprender mejor los mecanismos moleculares subyacentes a estas enfermedades y desarrollar nuevas dianas terapéuticas (AU)

Introduction. Conventional structural neuroimaging techniques (CT, MRI) are of only limited use in the diagnosis of patients with parkinsonian disorders. In contrast, explorations using nuclear medicine tools (PET and SPECT) can be useful for appraising these patients, since they allow neurochemical and functional aspects to be studied. Aims. This work aims to review the role of functional neuroimaging with PET and SPECT in the study of the nigrostriatal system and other brain functions, with special emphasis on brain SPECT of dopamine transporters with i123-ioflupane and its usefulness in the differential diagnosis of Parkinson's disease and other parkinsonisms. Conclusions. The study of the nigrostriatal function and of other non-dopaminergic systems is useful for the early diagnosis of Parkinson's disease, even in the promoter stage; for differentiating it from essential tremor, from other non-degenerative parkinsonisms (psychogenic, pharmacological, vascular) and from atypical parkinsonisms (multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration); and also for distinguishing Alzheimer's disease from dementia with Lewy bodies. Other tests and radiotracers, for different molecules-mechanisms that occur in Parkinson's disease and other parkinsonisms, are being developed and could be used both to fine-tune the diagnosis even more as well as to gain a better understanding of the molecular mechanisms underlying these diseases and develop new therapeutic targets (AU)

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

BACKGROUND AND PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene resulting in sterol-27-hydroxylase deficiency. Current information about CTX is based mainly on case reports, with only few large series reported. Although perceived as a potentially treatable condition, efficacy of chenodeoxycholic acid plus statin therapy remains unclear. To perform a nationwide survey of confirmed cases, with a thorough analysis of genotype-phenotype data and prognostic factors. METHODS: Retrospective review of the clinical and epidemiological aspects and mutations of all the patients diagnosed since 1992 in the main reference centers for genetic testing of CTX in Spain. RESULTS: Twenty-five patients from 19 families were identified. An average delay of 19 years was observed between symptom onset and clinical diagnosis. Two main clinical subgroups were recognizable: a classic form (cerebellar and other supratentorial symptoms) and a spinal form (chronic myelopathy). Cholestanol levels did not correlate with clinical presentation, severity or response to therapy. Despite treatment, five patients died during follow-up, one to 4 years after diagnosis. Thirteen different mutations were identified, with a higher frequency of p.R395C in Northwestern Spain and p.R405W in Southern Spain. None of the mutations could be associated with a particular clinical feature combination or prognosis. CONCLUSIONS: This is the first nationwide extensive series of CTX reported in Spain. The higher number of cases in some areas suggests a possible founder effect. Spinal forms had a less severe prognosis. A delayed diagnosis could contribute to the lack of significant response to treatment.

[Urinary disorders, sexual dysfunction and hypersexuality in Parkinson's disease]. / Trastornos urinarios, disfunción sexual e hipersexualidad en la enfermedad de Parkinson.

INTRODUCTION: As Parkinson's disease progresses, its non-motor manifestations become increasingly more apparent to the point where, in advances phases of the disease, they are the most important clinical symptoms. A very wide range of non-motor symptoms can appear in Parkinson's disease. Impairment of the urinary function and the sexual function (understood as the capacity to carry out sexual activity) can be seen as belonging to the dysautonomic disorders. Hypersexuality would be included within the group of impulse control disorders. DEVELOPMENT: This study reviews the epidemiology, phenomenology and treatment of urinary disorders, sexual dysfunction and hypersexuality as non-motor symptoms of Parkinson's disease. CONCLUSIONS: Urinary disorders are the most frequent non-motor symptom in Parkinson's disease. They usually present as nocturia, urgency and increased mictional frequency (pollakiuria). Preferred treatment is with anticholinergic agents. Sexual dysfunction is a frequent complaint in patients with Parkinson. It has a multifactorial aetiology and is more frequent in males than in females. In males it manifests mainly as incapacity to achieve an erection, premature ejaculation or loss of the capacity to ejaculate, whereas in females the predominant signs are decreased libido, lowered arousal and difficulty in reaching an orgasm. Hypersexuality affects young males above all and has been related to the use of dopamine agonists.

[Update on chorea]. / Actualización en coreas.

INTRODUCTION: Chorea is a brief, random, involuntary movement that can affect any muscle group and flows in an unpredictable manner from one part of the body to another. Choreic movements are present at rest, increase with distracting manoeuvres, can be partially suppressed and often disappear during sleep. The differential diagnosis of choreic syndromes is very wide and includes both genetic and acquired causes (cerebrovascular disease and space-occupying lesions, immune-based choreas, choreas caused by infection, toxic and metabolic encephalopathies, and choreas induced by pharmaceuticals). DEVELOPMENT: We review the phenomenology and pathophysiology of choreic movements, the most frequent causes, the diagnostic process and the most important recent findings in its treatment. CONCLUSIONS: Huntington's disease is the most frequent cause of hereditary chorea. In patients with a familial picture suggesting Huntington's disease, but with a negative genetic study, the chances of reaching a definitive diagnosis are, today, very low. Medication is the most frequent cause of acquired chorea. When dealing with a case of hemichorea, it is essential to rule out structural insult of the basal ganglia or their connections. Treatment of choreas must be aimed at correcting their cause if it is reversible, although the patient must always be given symptomatic treatment if the intensity and functional repercussions of the chorea require it. In cases of hereditary choreas, prevention could involve genetic counselling aimed at affected patients and their relatives.

Actualización en coreas / Update on chorea

Resumen. Introducción. La corea consiste en movimientos involuntarios, breves, aleatorios, que pueden afectar a cualquier grupo muscular, fluyendo de forma impredecible de una parte del cuerpo a otra. Los movimientos coreicos están presentes en reposo, aumentan con maniobras de distracción, se pueden suprimir parcialmente y con frecuencia desaparecen durante el sueño. El diagnóstico diferencial de los síndromes coreicos es muy amplio, incluyendo tanto cuadros de causa genética como formas adquiridas (enfermedad cerebrovascular y lesiones ocupantes de espacio, coreas de base inmune, coreas de causa infecciosa, encefalopatías tóxicas y metabólicas y coreas inducidas por fármacos). Desarrollo. Se revisa la fenomenología y la fisiopatología de los movimientos coreicos, las causas más frecuentes, el proceso diagnóstico y las principales novedades en su terapéutica. Conclusiones. La enfermedad de Huntington es la causa más frecuente de corea hereditaria. En los pacientes con un cuadro familiar sugestivo de enfermedad de Huntington, pero con un estudio genético negativo, la probabilidad de llegar a un diagnóstico definitivo es, a fecha de hoy, muy baja. Los fármacos son la causa más frecuente de corea adquirida. Ante un caso de hemicorea, es obligado descartar una lesión estructural de los ganglios basales o sus conexiones. El tratamiento de las coreas debe ir encaminado a corregir su causa en el caso de que ésta sea reversible, aunque siempre hay que ofrecer un tratamiento sintomático si la intensidad y la repercusión funcional de la corea así lo requieren. En las coreas hereditarias se podrá hacer prevención mediante el consejo genético dirigido a los pacientes afectados y sus familiares (AU)

Summary. Introduction. Chorea is a brief, random, involuntary movement that can affect any muscle group and flows in an unpredictable manner from one part of the body to another. Choreic movements are present at rest, increase with distracting manoeuvres, can be partially suppressed and often disappear during sleep. The differential diagnosis of choreic syndromes is very wide and includes both genetic and acquired causes (cerebrovascular disease and space-occupying lesions, immunebased choreas, choreas caused by infection, toxic and metabolic encephalopathies, and choreas induced by pharmaceuticals). Development. We review the phenomenology and pathophysiology of choreic movements, the most frequent causes, the diagnostic process and the most important recent findings in its treatment. Conclusions. Huntington’s disease is the most frequent cause of hereditary chorea. In patients with a familial picture suggesting Huntington’s disease, but with a negative genetic study, the chances of reaching a definitive diagnosis are, today, very low. Medication is the most frequent cause of acquired chorea. When dealing with a case of hemichorea, it is essential to rule out structural insult of the basal ganglia or their connections. Treatment of choreas must be aimed at correcting their cause if it is reversible, although the patient must always be given symptomatic treatment if the intensity and functional repercussions of the chorea require it. In cases of hereditary choreas, prevention could involve genetic counselling aimed at affected patients and their relatives (AU)

Nutrición basada en la evidencia en las enfermedades neurológicas / Evidence-based nutrition in neurological diseases

Las enfermedades neurológicas suponen una causa importante de morbilidad en los países desarrollados y, con frecuencia, conllevan alteraciones en el nivel de conciencia o en los mecanismos de la deglución que pueden hacer necesario un soporte nutricional artificial. La presente revisión tratará de evaluar, basándose en la mejor evidencia científica disponible, el soporte nutricional en la enfermedad cerebrovascular aguda, la demencia y la esclerosis lateral amiotrófica, así como la utilidad de la dieta cetogénica en el tratamiento de la epilepsia. Se realizó una búsqueda bibliográfica en MEDLINE (PubMed) y en la Cochrane Library Plus en español, y se seleccionaron estudios clínicos aleatorizados, revisiones sistemáticas y metaanálisis. Existen escasos ensayos prospectivos aleatorizados sobre soporte nutricional en enfermedades neurológicas. El estudio FOOD muestra que la sonda nasogástrica es mejor vía que la gastrostomía endoscópica percutánea para la nutrición enteral en el primer mes tras un ictus. En el caso de la demencia y otras enfermedades neurodegenerativas, las evidencias disponibles son débiles. No hay pruebas fiables procedentes de ensayos controlados aleatorizados que apoyen el uso de dietas cetogénicas en los pacientes con epilepsia (AU)

Neurological disease causes considerable morbidity in developed countries and frequently leads to alterations in the level of consciousness or in the mechanisms of swallowing, which may necessitate artificial nutritional support. The present review aims to evaluate nutritional support in acute cerebral vascular disease, dementia and amyotrophic lateral sclerosis, as well as the utility of a ketogenic diet in the treatment of epilepsy, based on the best available scientific evidence. A literature search was performed in Medline (PubMed) and in the Cochrane Library Plus in Spanish. Randomized clinical studies, systematic reviews, and meta-analyses were selected. There are few prospective randomized studies on nutritional support in neurological diseases. The FOOD study shows that the nasogastric tube is a better route of administration than percutaneous endoscopic gastrostomy for enteral nutrition in the first month after stroke. In the case of dementia and other neurodegenerative diseases, the available evidence is weak. There are no reliable data from randomized controlled trials that support the use of ketogenic diets in patients with epilepsy (AU)

Déficit nutricionales carenciales / Nutritional deficiency disease

Los micronutrientes, vitaminas y minerales, son compuestos necesarios para mantener un estado fisiológico adecuado. Su carencia ocasiona un síndrome complejo de síntomas y signos, bien caracterizado para cada vitamina y mineral, y que evoluciona en 3 etapas: depleción de las reservas, disfunción bioquímica y, finalmente, estado carencial, que puede manifestarse en cualquier órgano o sistema. En la actualidad, las enfermedades carenciales sólo se dan, en el caso de los países occidentales, en ciertos grupos de riesgo, pero aún siguen siendo un problema sanitario importante en países subdesarrollados. El diagnóstico de las carencias nutricionales comienza con la identificación de situaciones de riesgo nutricional. La anamnesis y una exploración física cuidadosa del paciente son clave en su detección (AU)

[Hashimoto's encephalopathy]. / Encefalopatía de Hashimoto.

Hashimoto's autoimmune thyroiditis is a common cause of thyroid disease. Neurological dysfunction related to thyroid hypo or hyperfunction is well known. Not so is autoimmune thyroid disease-associated or Hashimoto's encephalopathy, which includes different neurological manifestations appearing in the context of autoimmune thyroiditis with normal hormone levels. Around fifty cases have been reported since the first description by Brain in 1966. Pathogenesis is unknown, although the most accepted theory points out to an autoimmune cerebral dysfunction. There are two different clinical presentations. The vasculitic type is characterized by relapsing-remitting stroke-like episodes. The diffuse-progressive type shows insidious cognitive impairment, confusion, psychosis, somnolence and coma. Cerebrospinal fluid is abnormal in more than 80% of patients, with high protein levels and mononuclear pleocytosis. Steroids are the treatment of choice, although favourable evolution have been reported spontaneously or after thyroxine treatment.

Encefalopatía de Hashimoto / Hashimoto's encephalopathy

La tiroiditis autoinmune de Hashimoto es una causa común de enfermedad tiroidea. Las complicaciones neurológicas asociadas a hipo o hiperfunción tiroidea son bien conocidas. No lo es tanto la denominada encefalopatía autoinmune distiroidea o encefalopatía de Hashimoto, que incluye diferentes cuadros neurológicos que aparecen en el seno de una tiroiditis autoinmune y no se acompañan de una alteración en los valores de las hormonas tiroideas. Se han comunicado alrededor de 50 casos desde su descripción por Brain en 1966. Su patogenia es desconocida, aunque la teoría más aceptada es una afección cerebral autoinmune. Existen dos formas de presentación más o menos diferenciadas. La forma vasculítica se caracteriza por episodios seudoictales y su curso clínico es recidivante-remitente. La variante difusaprogresiva se caracteriza por un inicio insidioso, con deterioro cognitivo acompañado de confusión, psicosis, somnolencia o coma. El líquido cefalorraquídeo (LCR) es anormal en el 80 per cent de los pacientes. El hallazgo más frecuente es una hiperproteinorraquia moderada, que puede acompañarse de pleocitosis mononuclear. Aunque se han comunicado varios casos con evolución favorable espontánea o tras la administración de tiroxina, el tratamiento de elección son los esteroides (AU)