Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. Summary: Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies. The MEDLINE, ISI Web of Science and Scopus databases were searched (1983-2013) for studies performed in well-defined populations and geographical regions. Two independent reviewers assessed the studies and extracted data and predefined methodological parameters. Overall, 22 studies were included, reporting on 14,539 patients from 16 countries. Multisource population-based studies yielded higher prevalence values than studies based primarily on hospitals or genetic centres. The prevalence range of dominant HCA was 0.0-5.6/10⁵, with an average of 2.7/10⁵ (1.5-4.0/10⁵). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10⁵, the average being 3.3/10⁵ (1.8-4.9/10⁵). Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. The prevalence of autosomal dominant (AD) HSP (AD-HSP) ranged from 0.5 to 5.5/10⁵ and that of AR-HSP from 0.0 to 5.3/10⁵, with pooled averages of 1.8/10⁵ (95% CI: 1.0-2.7/10⁵) and 1.8/10⁵ (95% CI: 1.0-2.6/10⁵), respectively. The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while SPG11 was the most frequent AR-HSP, followed by SPG15. In population-based studies, the number of families without genetic diagnosis after systematic testing ranged from 33 to 92% in the AD-HCA group, and was 40-46% in the AR-HCA, 45-67% in the AD-HSP and 71-82% in the AR-HSP groups. Key Messages: Highly variable prevalence values for HCA and HSP are reported across the world. This variation reflects the different genetic make-up of the populations, but also methodological heterogeneity. Large areas of the world remain without prevalence studies. From the available data, we estimated that around 1:10,000 people are affected by HCA or HSP. In spite of advances in genetic research, most families in population-based series remain without identified genetic mutation after extensive testing.

BackgroundDespite worldwide recognition of the burden of dementia, no epidemiological data is yet available in Portugal. The objective of this study is to estimate the prevalence and describe the pattern of cognitive impairment with dementia or no dementia (CIND) in rural and urban populations from Northern Portugal.MethodsTwo random samples of residents aged 55 to 79 years in rural and urban communities were drawn from the health centres registries to be screened for cognitive impairment. The screening criteria for dementia were an abnormal Mini-Mental State Examination (MMSE) score or a Blessed Dementia Scale score. After excluding those who tested positive for dementia, cut-off points for CIND were set at 1 standard deviation below the mean of the MMSE according to educational level. All those who screened positive either for dementia or CIND were examined by a neurologist for establishing a definitive diagnosis.ResultsThe prevalence of cognitive impairment was higher in rural than in urban populations, 16.8% (95% CI: 14.3-19.8%) vs. 12.0% (95%CI: 9.3-15.4%), with a rural/urban prevalence ratio (PR) of 2.16 (95% CI: 1.04-4.50) in the eldest and 2.19 (95% CI: 1.01-4.76) in persons with vascular risk factors. The prevalence of dementia was 2.7% (95% CI: 1.9-3.8%) with a rural/urban PR = 2.1 and the prevalence of CIND was 12.3% (95% CI: 10.4-14.4%) and PR = 1.3. The prevalence of dementia increases exponentially with age and in those with cerebrovascular disease or other comorbid conditions while the prevalence of CIND, besides these factors, is also higher in persons with low levels of education or vascular risk factors. Alzheimer's and vascular disease were equally likely aetiologies of dementia (38.7%), the later more common in men PR(F:M = 0.3) as opposed to the former PR(F:M = 2.0). Vascular CIND, associated either with cerebrovascular disease or vascular risk factors was more frequent (39.7%) then depression (18.4%) or any other aetiology.ConclusionsThe prevalence of cognitive impairment is higher in rural compared with urban populations. This is shown in the synergy between age and rurality, with the rural/urban prevalence ratio increasing with age. In this relatively young population from Northern Portugal, cerebrovascular disease as well as vascular risk factors account for 48% of overall cognitive impairment.

Women are reported to have greater mortality in the short term after stroke than men. In a review of 31 populationbased studies of short-term mortality after stroke, Appelros et al 1 reported that women had a 25% greater risk of 1-month crude mortality than men. It remains unclear what accounts for this disparity and whether these differences persist into the Background-Women are reported to have greater mortality after stroke than men, but the reasons are uncertain. We examined sex differences in mortality at 1 and 5 years after stroke and identified factors contributing to these differences. Methods and Results-Individual participant data for incident strokes were obtained from 13 population-based incidence studies conducted in Europe, Australasia, South America, and the Caribbean between 1987 and 2013. Data on sociodemographics, stroke-related factors, prestroke health, and 1-and 5-year survival were obtained. Poisson modeling was used to estimate the mortality rate ratio (MRR) for women compared with men at 1 year (13 studies) and 5 years (8 studies) after stroke. Studyspecific adjusted MRRs were pooled to create a summary estimate using random-effects meta-analysis. Overall, 16 957 participants with first-ever stroke followed up at 1 year and 13 216 followed up to 5 years were included. Crude pooled mortality was greater for women than men at 1 year (MRR 1.35; 95% confidence interval, 1.24-1.47) and 5 years (MRR 1.24; 95% confidence interval, 1.12-1.38). However, these pooled sex differences were reversed after adjustment for confounding factors (1 year MRR, 0.81; 95% confidence interval, 0.72-0.92 and 5-year MRR, 0.76; 95% confidence interval, 0.65-0.89).Confounding factors included age, prestroke functional limitations, stroke severity, and history of atrial fibrillation. Conclusions-Greater mortality in women is mostly because of age but also stroke severity, atrial fibrillation, and prestroke functional limitations. Lower survival after stroke among the elderly is inevitable, but there may be opportunities for intervention, including better access to evidence-based care for cardiovascular and general health. There have been no studies specifically designed to examine sex differences in long-term mortality after stroke. Identifying factors that explain the sex differences in mortality is important because better understanding could lead to interventions to reduce the disparities.2 In an Australian study, the 36% greater risk of death at 28 days for women compared with men was explained by age, prestroke health, stroke severity, and use of anticoagulants at discharge. 3 After adjustment in that study, women had a 17% lower short-term mortality than men. It is unknown whether these same factors account for the relative sex differences in other geographical regions or in long-term mortality.Our aims were to quantify the relative sex difference in long-term mortality and to identify factors that contribute to the greater mortality of women after stroke using a meta-analysis of pooled individual participant...