Summary Transthyretin (TTR) familial amyloid polyneuropathy is a severe autosomal dominant neuropathy of adulthood, frequently linked to the pathogenic Val30Met variant of the TTR gene. The condition was initially described in northern Portugal, which is the first focus of the disease. Other important clusters of families are found in Sweden, Japan and South America. The origin of the Val30Met mutation and its distribution through the populations remains unclear. In the present work, we aimed at refining the history of the Val30Met mutation in patients affected with TTR amyloid neuropathy from Portugal, Sweden and Brazil. The decay of haplotype sharing was studied in 60 patients to estimate the age of the Most Recent Common Ancestor (MRCA) of mutation carriers in these populations. Our results showed a common haplotype in Portuguese and Brazilian patients and an age estimate of the MRCA of 750 and 650 years, respectively. In contrast, a different haplotype was found in the Swedish Val30Met patients with a corresponding age estimate for the MRCA, of 375 years. This work strengthens the hypothesis of different founders in Portuguese and Swedish Val30Met carriers and suggested a Portuguese origin of the Brazilian mutation. The age estimates of the MRCA are in line with the current historical knowledge of these populations.

RESUMO -Funcionários de uma empresa (n=993) foram entrevistados quanto à ocorrência de cefaléias durante um período retrospectivo de 30 dias. A prevalência foi 49,8%, com frequência de 4,3±7,0 episódios e duração de 12,2±21,4 horas. Os diagnósticos baseados na classificação da Sociedade Internacional de Cefaléias, foram enxaqueca (5,5%), cefaléia do tipo tensão (CTT) episódica (26,4%), CTT crônica (1,7%) e outras cefaléias (16,2%). As mulheres foram mais acometidas e tiveram proporcionalmente mais enxaquecas que os homens. Cerca de 10% dos pacientes relataram dor suficientemente intensa a ponto de prejudicar seu desempenho no trabalho, o que representou 538,75 horas não trabalhadas. O custo indireto proporcionado pela interferência no trabalho foi estimado para cada cefaléia. O potencial prejuízo projetado à empresa devido às cefaléias é R$145,64 por funcionário, ou R$144 682,39 por ano. Como a enxaqueca é a cefaléia de maior custo, seu controle é particularmente importante no ambiente de trabalho. Há meios eficazes para reduzir sua frequência, com reflexos positivos no bem-estar e na produtividade do indivíduo. A relação custo-benefício favorece claramente a instituição de programas de prevenção e tratamento contra cefaléias crônicas. PALAVRAS-CHAVE: cefaléia, enxaqueca, epidemiologia, custos. Prevalence and indirect costs of headache in a Brazilian CompanyABSTRACT -Employees from a Brazilian oil company reserach centre (n=993) were interviewed on the occurrence of headache during a 30 days period. Headache prevalence was 49.8%, with a mean frequency of 4.3±7.0 attacks per month, lasting 12.2±21.4 hours each. According to the International Headache Society diagnostic criteria, migraine (5.5%), episodic tension-type headache (26.4%), chronic tension-type headache (1.7%) and headaches not fulfilling the criteria for such disorders (16.2%) were observed. Women suffered comparatively more headache and specifically migraine than men. The pain interfered with work productivity in 10% of the subjects, corresponding to 538.75 hours off. According to an indirect costs estimation for each headache, the company may loose up to US$125.98 per employee annually. Since among headaches migraine has the highest indirect cost, migraine prevention and treatment is particularly important at the working environment. Migraine frequency may be prevented to a large extent, resulting on positive effects in both the quality of life and productivity. The cost-benefit ratio clearly favours therapeutic and preventive programs against chronic headaches.KEY WORDS: headache, migraine, epidemiology, costs.Poucos são os indivíduos que jamais experimentam um episódio de cefaléia 1,2 . Noventa por cento dos homens e 95% das mulheres admitem ter sofrido algum tipo de dor de cabeça durante 1 Setor

4. Fraser HS, Wilson WA, Rose E, Thomas EJ, Sissons GP. Dengue fever in Jamaica with shock and hypocomplementaemia, haemorrhagic, visceral and neurological complications. West Indian Med J 1978;27:106 -116. 5. Yamamoto Y, Takasaki T, Yamada K, et al. Acute disseminated encephalomyelitis following dengue fever. J Infect Chemother 2002;8:175-177. 6. Janssen HL, Bienfait HP, Jansen CL, et al. Fatal cerebral oedema associated with primary dengue infection. J Infect 1998;36:344 -346. 7. Nogueira RMR, Filippis AMB, Coelho JMO, et al. Dengue virus infection of the central nervous system (CNS): a case report from Brazil. Southeast AsianAcquired hepatocerebral degeneration (AHCD) is usually described in patients with chronic liver diseases with portalsystemic shunting and previous episodes of acute hepatic encephalopathy. We describe an atypical case with no overt evidence of hepatic disease in which the characteristic neuroradiologic findings first called attention to the diagnosis. Case report. A 45-year-old man had progressive quadriparesis, dysphagia, and dysphonia for 18 months. He then developed back pain, urinary retention, and weight loss. There was no history of alcoholism or electrolyte disturbances. The general physical examination was unremarkable. The neurologic examination disclosed mental slowing, asymmetric spastic quadriparesis predominating in the lower limbs, mild arm ataxia, dysarthria, and left palate paresis. EMG, CSF, and slitlamp examination were normal. Cranial CT showed moderate corticosubcortical atrophy; MRI revealed symmetric focal lesions in the cerebellar peduncles and white matter (figure, A through D). The patient developed recurrent fever from Staphylococcus aureus infection of undetermined origin. Liver enzymes were normal (alanine aminotransferase, 38 U/L; aspartate aminotransferase, 41 U/L), and ammonia level was not measured. IV administration of oxacillin for 14 days was associated with fluctuating cholestatic jaundice, with no evidence of biliary dilation or other visceral lesions on ultrasound studies. Abdominal Doppler and CT studies disclosed a complete portal vein thrombosis with marked collateral retroperitoneal circulation. Rectal biopsy was negative for Schistosoma mansoni ova. One week after the antibiotic was withheld, the patient developed marked jaundice, followed by disorientation, oliguria, metabolic acidosis, and finally respiratory failure. Once again, S. aureus was isolated in blood cultures, and the patient was admitted to the intensive care unit, where he died on day 55 after admission.

Discordant expression of Familial Amyloid Neuropathy (FAP) in monozygotic twins is a rare event. Only five such cases have been described in the literature so far. We report the clinical, neurophysiologic and autonomic findings of Brazilian monozygotic twins discordant for the expression of FAP type I. Twin I first presented symptoms at the age of 21, when his brother was completely asymptomatic. Twin 2 only presented symptoms at the age of 25, almost four years after his brother. Both brothers eventually developed the complete phenotype of FAP type I. The occurrence of monozygotic twins discordant for the expression of FAP type I suggests that other factors beside TTR gene mutations should play an important role in the pathogenesis of this condition. Environmental factors, as well as modifier genetic loci are likely to modulate the expression of FAP type I and the study of cases such as the one presented here may help to identify some of these factors.

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