[Autosomal recessive chorea-acanthocytosis linked to 9q21]. / Corea-acantocitosis autosómica recesiva ligada a 9q21.

A 34-year-old male, son of consanguineous parents, had a progressive neurological illness characterized by seizures, tics, choreic movements and mood changes. Acanthocytosis was present in blood. The level of creatine kinase was elevated. Normobetalipoproteinemia was noted. No KX group changes of McLeod syndrome were found. Serial neuroimaging studies demonstrated progressive caudate atrophy. Muscular biopsy confirmed the existence of non-specific myopathy. Genetic study demonstrated homozigosity for the 9q21 region.

[A case-control study of risk factors of acute cerebrovascular disease]. / Estudio de casos y controles de factores de riesgo de accidente cerebrovascular agudo.

BACKGROUND: Stroke is the cardiovascular disease which causes the greatest number of deaths in Galicia, mortality, particularly in women, being higher than in the rest of Spain. The aim of this study was to investigate the risk factors of stroke and its importance in Galicia. METHODS: A hospitalary study of cases and controls was performed including 76 patients with stroke and 76 controls individually paired for age, sex, population habitat and date of admission with anamnesis, weight, height and blood pressure, analysis and electrocardiogram being carried out in all. RESULTS: An association was found between the disease and family history of stroke (odds ratio = 3.6, confidence interval 95% = 1.2-13.3), personal history of stroke (17.9; 4.0-79.1), personal history of atrial fibrillation (15.0; 3.3-68.3), high blood pressure (4.5; 1.9-11.6) and ingestion of alcohol greater than or equal to 80 g/day in comparison with abstemious patients adjusted for the effect of high blood pressure (2.5; 1.1-5.7). An association was also observed with serum cholesterol levels greater than or equal to 250 mg/dl (6.46 mmol/l) (3.3; 1.2-8.8, in comparison with cholesterol less than 200 mg/dl). No association was found with the cigarette smoking (1.2; 0.7-2.3). CONCLUSIONS: The results observed for high blood pressure and the ingestion of alcohol regardless of the same are of importance in primary prevention due to being modifiable risk factors. The association with family history of stroke and auricular fibrillation reinforce the needs for primary prevention measures in these subpopulations while having had a stroke or a transitory ischemic attack is the characteristic with the most risk reinforcing the need for secondary prevention measures which have found to be effective. The controls presented abnormally low cholesterol levels that do not reflect those of the population from which they originate, thus existing the possibility that the association observed is spurious.