Novel presenilin 1 mutation associated with early-onset Alzheimer's disease in a Saudi patient

We report a 60-year-old Saudi patient with the clinical diagnosis of Alzheimer's disease [AD] and a novel mutation in the presenilin gene. We investigated mutations in the presenilin-1 gene in Saudi patients with AD using polymerase chain reaction and direct DNA sequencing methods. We extracted genomic DNA from the whole blood of both patients and normal control individuals. We sequenced and compared amplicons with the sequences of the respective exons of normal individuals as well as data available in GenBank. We detected a homozygous mutation [g c] in exon 12, resulting in the missense mutation [Arg377Thr], in the DNA of a 60-year-old patient. We located this mutation in the cytoplasmic loop near the transmembrane domain 7

Transient Ischaemic attacks in Saudi Arabia- A study of 106 cases

The purpose of this study was to determine the patterns of transient ischaemic attacks [TIAs] as seen in Saudi hospitals as the data both on cerebrovascular disorders and TIAs are sparse in Arabian patients. All cases of cerebrovascular disease [CVD] admitted to two major hospitals in Saudi Arabia were reviewed and patients presenting with TIA or stroke preceded by TIA were included in this study. A total of 106 [10% of CVD] had TIAs 61 developed subsequent stroke including 28% of lacunar infarction-66% were in the 51-70 year age group and the male:female ratio was 3.2:1. Frequency of arterial hypertension, Diabetes mellitus and ischaemic heart disease were similar to those observed elsewhere. However, only 4% had demonstrated carotid artery disease and 11% had associated atrial fibrillation. The pathophysiology of TIAs in Saudi Arabia could be different from the pattern in Western countries. Large artery disease may not be the major determinant. Small artery disease as well as cardiac embolism could play a greater role than in other places

Diagnostic agreement between primary care physicians and neurologists

The ability of primary care physicians [PCP[s]] to diagnose neurologic disorders was assessed from the records of 166 patients referred to the neurology outpatient clinic in one year. At the time of referral, 74.7% were correctly diagnosed. Primary care physicians were competent in the diagnosis of cerebrovascular accidents, epilepsy, space-occupying lesions, dementia, extrapyramidal and cerebellar disorders. More specific diagnosis was difficult at the primary care level in cases of headache, spinal cord and peripheral nerve disorders. The implications of these results and possible reasons for them are discussed. Solutions to improve on this situation are recommended with emphasis on both undergraduate and postgraduate training in neurological bedside skills. The complementary roles of the primary care physician and the neurologist are stressed