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Multiple sclerosis (MS) is a chronic immune-mediated demyelinating disease of the central nervous system characterized by relapses and remissions. The risk of acquiring this complex disease is associated with exposure to environmental factors in genetically susceptible individuals. The epidemiology of MS has been extensively studied. We review the(More)
We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on chromosome 9q34.3. Whole-exome sequencing identified a mutation in KCNT1, encoding a sodium-gated potassium channel subunit. KCNT1 mutations were identified in two(More)
There have been few population-based studies of acute transverse myelitis (ATM). Therefore, incidence and population selectivity of this disorder in different regions is not well known. Data on all Jewish patients with ATM throughout Israel were collected for the period 1955 through 1975. Based on 62 patients who satisfied rigid diagnostic criteria, the(More)
All identified Israeli patients with amyotrophic lateral sclerosis (ALS) with onset of the disease from 1959 through 1975 (n = 318) were evaluated clinically. Most of our patients (63%) presented with weakness; only 10% presented with atrophy and 3% with fasciculations. In 31% of the cases, the onset of the disease was focal and 22% of the patients(More)
BACKGROUND Creutzfeldt-Jakob disease is a transmissible neurodegenerative disorder that occurs more than 100 times more frequently among Libyan Jews than in the worldwide population. We examined 11 patients with the disease--10 Libyan Jews from Israel and 1 Libyan Jew from Italy--to determine whether abnormalities of the prion protein could be detected in(More)
This case-control study was aimed at identifying environmental risk factors for multiple-sclerosis (MS). Ninety-three Israeli-born MS patients identified in country-wide studies and 94 age- and sex-matched controls were interviewed. The questionnaire covered a large span of factors at ages 0, 10 and onset of the disease, with particular emphasis on(More)
The incidence of amyotrophic lateral sclerosis (ALS) in Israel was determined for the period 1959 through 1974. A total of 246 patients with ALS was ascertained. The male-female ratio was 1.62:1. The average annual age-adjusted incidence per 100,000 persons increased during this period by 41%. The increase was almost entirely due to a higher rate in persons(More)
PrP(Sc), an aberrantly folded protein, is the only identified component of the prion, an agent causing fatal neurodegenerative diseases such as scrapie and bovine spongiform encephalopathy. Dimethyl sulfoxide (DMSO) has been shown to reduce the accumulation of PrP(Sc) in scrapie-infected (ScN2a) cells, and to inhibit its aggregation in vitro. In humans,(More)
Idiopathic torsion dystonia (ITD) is a dominantly inherited disorder with incomplete penetrance. It is important to identify factors that may cause dystonia or prevent its occurrence in a genetically predisposed individual. Because dystonia may be precipitated by peripheral triggers, we have investigated whether the preferential use of a limb affects the(More)