Objectives:To examine the association of exposure to sociodemographic, environmental, and lifestyle risk factors during adolescence with the development of multiple sclerosis (MS).Methods:We conducted a case-control study between October 2017 and January 2018 at King Fahd General Hospital (KFH) in Madinah, Saudi Arabia. Data were collected by direct physician-subject interviews. We utilized a questionnaire modified from the environmental risk factors in multiple sclerosis questionnaire (EnvIMS-Q). Chi-square tests were used to examine associations of selected risk factors with the development of MS, a p-value of <0.05 was considered significant.Results:A total of 80 cases and 160 controls were enrolled into the study. Smoking during adolescence significantly increased the risk of MS, with an adjusted odds ratio (AOR) of 4.165, and a 95% confidence interval (CI) of 1.449-11.974. Large body size, assessed using a figure rating scale, also increased the risk of MS (AOR=8.970, 95% CI=1.032-77.983), as well as a history of measles infection (AOR=3.758, 95% CI=1.455-9.706). Furthermore, exposure to sunlight during the weekend for more than 4 hours/day decreased the risk of MS (AOR=0.063, 95% CI=0.006-0.654), so did the consumption of fish for more than once per week (AOR=0.206, 95% CI=0.055-0.773).Conclusion:The risk of developing MS is significantly increased by exposure during adolescence to smoking, a history of measles infection, and large body size (obesity).

Chorea-acanthocytosis is a rare autosomal recessive disorder. Its characteristics are orofacial dyskinesia, hyporeflexia, seizures, aberrant behavior, atrophy of the caudate and putamen, and acanthocytes in the blood with a normal level of lipoproteins. We describe three families with chorea-acanthocytosis. The inheritance pattern was recessive and the average age at onset was 27 years (range, 18-35 years). The presenting symptoms were seizures, aberrant behaviour, chorea, tics, and/or abnormal gait. Phase-contrast and electron microscopy examinations of blood showed 10 to 40% acanthocytes. The lipid profile was normal except that, in one family, no prebetalipoprotein bands corresponding to the fraction of very low-density lipoprotein were seen in high-resolution lipoprotein electrophoresis. Magnetic resonance imaging of the brain showed marked atrophy in the caudate and putamen; 18-fluorodeoxyglucose positron emission tomography scan showed hypometabolism in the striatum. In all three families, the disease was linked to a 6-cM region of chromosome 9q21 flanked by the recombinant markers GATA 89a11 and D9S1843. This finding strongly suggests the involvement of a single locus for this syndrome. Three different homozygous mutations of this gene have been identified. Although the clinical presentation was variable, the genetic studies on these three Saudi Arabian families with chorea-acanthocytosis provide strong evidence for a genetic locus for chorea-acanthocytosis at chromosome 9q21.

Background Multiple Sclerosis (MS) is a chronic CNS inflammatory disease commonly affecting young adults. Both genetics and environmental factors have been reported to have a role in pathophysiology of the disease. Objective This article aims to report familial nature and aspects of MS in Saudi Arabia. Method The study utilized data collected by the National Saudi MS Registry between 2015 and 2018; especially data relevant to the familial history of MS. SPSS 22 was used for all analysis and reporting. Statistical significance was set at p-value < 0.05. Results The registry included 20 hospitals and a total of 2516 patients from the different regions of Saudi Arabia with median age 32.00 (Range: 11–63) and 66.5% being female. About 12.8% of all registered patients reported a family history of MS (95%CI: 11.2-13.9). Reported parental consanguinity was significantly higher among patients with family history (FMS) (56.3%) compared to non-FMS patients (27.9%). 42.53% of FMS patients reported having siblings affected with MS (95%CI: 37.01–48.21), with more female siblings affected than males (63.4% vs 36.6% respectively). Conclusion Our Findings suggested that FMS was less prevalent than what was reported previously; however, parental consanguinity was significantly more prevalent among FMS patients than non-FMS. Our findings were in line with those reported in recent studies in the region, but lower than those reported by western countries indicating that increasing prevalence of MS in Saudi Arabia could be multifactorial and other environmental factors should be considered for understanding this recent rise in the prevalence of MS in Saudi Arabia.