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.

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.

[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.