https://tud.qucosa.de/api/qucosa%3A26871/attachment/ATT-0/

Cost of disorders of the brain in Europe 2010

/pdf/european-evidence-based-consensus-on-the-prevention-2i61racmdl.pdf

European evidence-based Consensus on the prevention, diagnosis and management of opportunistic infections in inflammatory bowel disease.

Summary The uneven distribution of multiple sclerosis (MS) across populations can be attributed to differences in genes and the environment and their interaction. Prevalence and incidence surveys could be affected by inaccuracy of diagnosis and ascertainment, and prevalence also depends on survival. These sources of error might play a part in the geographical and temporal variations. Our literature search and meta-regression analyses indicated an almost universal increase in prevalence and incidence of MS over time; they challenge the well accepted theory of a latitudinal gradient of incidence of MS in Europe and North America, while this gradient is still apparent for Australia and New Zealand; and suggest a general, although not ubiquitous, increase in incidence of MS in females. The latter observation should prompt epidemiological studies to focus on changes in lifestyle in females. New insights into gene–environment and gene–gene interactions complicate interpretations of demographic epidemiology and have made obsolete the idea of simple causative associations between genes or the environment and MS.

The Changing Demographic Pattern of Multiple Sclerosis Epidemiology

2017 ACC/AHA/HRS guideline for the evaluation and management of patients with syncope: A report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society

Multiple sclerosis (MS) is the most common cause of neurological disability in young adults worldwide and approximately half of those affected are in Europe. The assessment of differential incidence and prevalence across populations can reveal spatial, temporal and demographic patterns which are important for identifying genetic and environmental factors contributing to MS. However, study methodologies vary and the quality of the methods can influence the estimates. This study aimed to systematically review European studies of incidence and prevalence of MS and to provide a quantitative assessment of their methodological quality. A comprehensive literature search was performed to obtain all original population-based studies of MS incidence and prevalence in European populations conducted and published between January 1985 and January 2011. Only peer-reviewed full-text articles published in English or French were included. All abstracts were screened for eligibility and two trained reviewers abstracted the data and graded the quality of each study using a tool specifically designed for this study. There were 123 studies that met the inclusion criteria. The study estimates were highly heterogeneous, even within regions or countries. Quality was generally higher in the more recent studies, which also tended to use current diagnostic criteria. Prevalence and incidence estimates tended to be higher in the more recent studies and were higher in the Nordic countries and in northern regions of the British Isles. With rare exceptions, prevalence and incidence estimates were higher in women with ratios as high as 3:1. Few studies examined ethnicity. Epidemiological data at the national level was uncommon and there were marked geographical disparities in available data, with large areas of Europe unrepresented and other regions well-represented in the literature. Only 37% of the studies provided standardized estimates. Despite the breadth of the literature on the epidemiology of MS in Europe, inter-study comparisons are hampered by the lack of standardization. Further research should focus on regions not yet studied and the evaluation of ethnic differences in MS prevalence and incidence. National-level studies using current diagnostic criteria, validated case definitions and similar age- and sex-standardization would allow better geographical comparisons.

/pdf/incidence-and-prevalence-of-multiple-sclerosis-in-europe-a-37dnb5dcmm.pdf

Incidence and prevalence of multiple sclerosis in Europe: a systematic review.

Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56 . Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century. We found the presence of the spinocerebellar ataxia 36 mutation co-segregating with disease in these families in whom we had previously identified an ∼0.8 Mb linkage region to chromosome 20 p. Subsequent screening revealed the NOP56 expansion in eight additional Galician ataxia kindreds. While normal alleles contain 5–14 hexanucleotide repeats, expanded alleles range from ∼650 to 2500 repeats, within a shared haplotype. Further expansion of repeat size was frequent, especially upon paternal transmission, while instances of allele contraction were observed in maternal transmissions. We found a total of 63 individuals carrying the mutation, 44 of whom were confirmed to be clinically affected; over 400 people are at risk. We describe here the detailed clinical picture, consisting of a late-onset, slowly progressive cerebellar syndrome with variable eye movement abnormalities and sensorineural hearing loss. There were signs of denervation in the tongue, as well as mild pyramidal signs, but otherwise no signs of classical amyotrophic lateral sclerosis. Magnetic resonance imaging findings were consistent with the clinical course, showing atrophy of the cerebellar vermis in initial stages, later evolving to a pattern of olivo-ponto-cerebellar atrophy. We estimated the origin of the founder mutation in Galicia to have occurred ∼1275 years ago. Out of 160 Galician families with spinocerebellar ataxia, 10 (6.3%) were found to have spinocerebellar ataxia 36, while 15 (9.4%) showed other of the routinely tested dominant spinocerebellar ataxia types. Spinocerebellar ataxia 36 is thus, so far, the most frequent dominant spinocerebellar ataxia in this region, which may have implications for American countries associated with traditional Spanish emigration.

* Abbreviations
 : SCA 
 :  spinocerebellar ataxia
 SNP 
 :  single nucleotide polymorphism
 TP-PCR 
 :  triplet repeat primed polymerase chain reaction

/pdf/costa-da-morte-ataxia-is-spinocerebellar-ataxia-36-clinical-1vxjtwfcgz.pdf

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

IntroductionMultiple sclerosis (MS) is the most common central nervous system disease in young adults, and one of the leading causes of disability in this age group.ObjectivesTo establish the preva...

Prevalence of multiple sclerosis in Santiago de Compostela (Galicia, Spain)

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Resumen Introduccion La esclerosis multiple de comienzo tardio (EMCT) es una entidad infrecuente y no bien caracterizada, que suele plantear dificultades diagnosticas. Objetivos Estudio retrospectivo de una serie hospitalaria de EMCT (primer sintoma a partir de los 50 anos). Pacientes y metodos Se estudiaron factores demograficos, sintomas iniciales, retraso diagnostico, grado de discapacidad en el momento del diagnostico, formas clinicas evolutivas y hallazgos en estudios de LCR, PEV y RM. Resultados Se incluyeron 18 pacientes (12 mujeres y 6 varones) con EMCT (4,8% del total de la serie estudiada). Los sintomas iniciales mas frecuentes fueron deficits motores (33%), de afectacion de multiples sistemas (33%) y cerebelosos (16%). Las formas clinicas evolutivas (todos los casos con un seguimento minimo de 5 anos tras el diagnostico) fueron: EM-PP (62%), EM-SP (22%) y EM-RR (16%). La EDSS en el momento del diagnostico era superior a 4 en un tercio de los pacientes; el retraso diagnostico supero los 5 anos en dos tercios de los casos. El estudio de RM cerebral resulto anormal y compatible con EM en todos los pacientes y cumplia criterios de Barkhof en 12 (67%). Las BOC resultaron positivas en el 64% de los pacientes en los que fueron determinadas; los PEV estaban alterados en el 73% de los casos estudiados. Los diagnosticos erroneos previos mas frecuentes fueron patologia cerebrovascular y mielopatia espondiloartrosica cervical. Conclusiones La EMCT suele manifestarse con deficits motores o de multiples sistemas, que progresan desde su inicio; se diagnostica con retraso, cuando hay ya un grado de discapacidad importante. El estudio de RM cerebral y medular, en conjuncion con los PEV y BOC en el LCR facilita su diagnostico. Patologia cerebrovascular isquemica y mielopatia cervical son los diagnosticos erroneos mas habituales.

Esclerosis múltiple de comienzo tardío

Introduction Late onset multiple sclerosis (LOMS) is an unusual entity, poorly characterized and difficult to diagnose. Objective To study a series of patients with LOMS (presentation of the first symptom of disease after the age of 50 years). Patients and methods In this retrospective study we review demographic characteristics, first onset symptom, diagnostic delay, disability at the time of diagnosis (EDSS), disease course and findings in CSF, VEP and MRI studies. Results We included 18 patients (12 F and 6 M) with LOMS (4.8% of the total). The most frequent first symptoms were motor deficits (33%), multisystem deficits (33%) and cerebellum disorder (16%). Clinical course (all the cases with a minimal follow-up of 5 years after the diagnosis): primary progressive-MS (62%), secondary progressive MS (22%), relapsing-remitting MS (16%). The initial EDSS score was higher than 4 points in one third of patients and diagnosis delay was over 5 years in two thirds of cases. The cerebral MRI study was abnormal and compatible with MS in all patients and fulfilled the Barkhof criteria in 12 cases (67%). IgG oligoclonal bands were positive in 64% of patients in the CSF study and VEP were abnormal in 73%. The most frequent wrong diagnoses were cerebrovascular disorders and spondyloarthritic cervical myelopathy. Conclusions LOMS course is often primary, progressive and motor and multisystem symptoms are the most frequent. The diagnosis is usually delayed and when it is made patients have a high disability score. The findings of cerebral and spinal MRI, CSF and VEP studies are of high diagnostic yield. Cerebrovascular disorders and spondyloarthritic cervical myelopathy are the most important entities in the differential diagnosis of LOMS.

Dapena D

Papers

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

Prevalence of multiple sclerosis in Santiago de Compostela (Galicia, Spain)

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Esclerosis múltiple de comienzo tardío

Late onset multiple sclerosis