Headache during gestation: evaluation of 1101 women.

OBJECTIVE: The purpose of this study was to evaluate the presence of headache in women with a previous history or new-onset headache during the current gestation, classify the findings, and describe the clinical characteristics and outcome of the headache. METHODS: From January/1998 to June/2002 we prospectively evaluated 1101 pregnant women (12-45 years old), with a history of headache, at two prenatal clinics and an inpatient obstetric public hospital. Women were interviewed using a semi-structured questionnaire during the first, second, and third gestation trimesters and immediately after delivery. All interviews were conducted by one of the authors, using the International Headache Society Classification (IHSC-2004). RESULTS: In 1029 women there was a history of headache prior to the current pregnancy, 36 (3.4%) women first experienced headache during this pregnancy and 40 patients experienced new types of headache. In these 76 patients with new onset headache during pregnancy, 40 had secondary headache (52.6%), 31 had primary headache (40.8%), and 5 had headache not classified elsewhere (6.6%). According to IHSC- 2004 criteria, we found migraine in 848/1029 women (82.4%), with pregestational headache. CONCLUSIONS: Most of the pregnant women presented with headache, mainly in migraine, prior to pregnancy, and most of the headaches improved or disappeared during the second and third gestation trimester. In a relatively small number of pregnant women, a new type of headache started during the gestation.

Headaches during pregnancy in women with a prior history of menstrual headaches.

OBJECTIVE: To evaluate the presence of menstrual headaches prior to pregnancy according to the International Headache Society (IHS) classification criteria, 2004, and also study the outcome (frequency and intensity) of these pre-existing headaches during the gestational trimesters. METHOD: This study involved 1,101 pregnant women (12 to 45 years old). A semi-structured questionnaire was used to interview the women during the first, second and third gestational trimesters as well as after delivery. All the interviews were conducted by one of the researchers by applying the IHS Classification (IHSC-2004). RESULTS: A 1,029 women out of the 1,101 women interviewed presented headaches prior to gestation, which made it possible to study headaches in 993 women during the gestational trimesters. Menstrually related headaches were presented by 360 of the 993 women. Migraine was reported by 332/360 women (92.22%) with menstrual headaches and 516/633 women (81.51%) without menstrual headaches, respectively, prior to gestation. The majority of the women with menstrual migraine presented a headache improvement or disappearance during gestation (62.22% during the first trimester; 74.17% during the second trimester; 77.78% during the third trimester). CONCLUSION: Most of the pregnant women with menstrual or non-menstrual headaches prior to gestation presented migraine, which either improved or disappeared during pregnancy. Women who suffered from non-menstrual headaches improved during pregnancy but not as much as women with menstrual headaches.

Molecular characteristics of Machado-Joseph disease mutation in 25 newly described Brazilian families

A doença de Machado-Joseph (MJD) é uma forma de ataxia espinocerebelar (AEC) de herança autossômica dominante, que foi descrita inicialmente em pacientes norte-americanos provenientes das ilhas portuguesas dos Açores. Clinicamente essa doença é caracterizada por uma ataxia cerebelar progressiva, de início tardio e com algumas características associadas tais como: oftalmoplegia, sinais piramidais e extrapiramidais e amiotrofias. A mutaçäo responsável é uma expansäo de trinucleotídeos CAG localizada na regiäo codificadora do gene MJD1. Como parte de um estudo colaborativo sobre AEC no Brasil, nós identificamos 25 famílias, näo aparentadas, segregando a mutaçäo MJD. Nesse artigo nós relatamos as características moleculares do trinucleotídeo CAG presente no gene MJD1 em 62 indivíduos dessas famílias com MJD e em 63 indivíduos que näo apresentam a mutaçäo MJD (126 cromossomos normais) e que foram considerados como controles. Nós observamos uma grande diferença entre os tamanhos dos alelos CAG normais e expandidos. Os alelos normais variaram entre 12 e 33 CAGs (média de 23 CAGs), enquanto que os alelos expandidos tiveram de 66 a 78 CAGs (média de 71.5 CAGs). Näo encontramos nenhuma diferença entre o tamanho dos alelos expandidos em pacientes masculinos e femininos ou entre alelos transmitidos via paterna ou materna. Uma correlaçäo negativa significante foi observada entre a idade de início da doença e o tamanho do segmento de CAG expandido (r=-0,6, P=0,00006); no entanto o tamanho do segmento de CAG expandido foi responsável por somente 40 por cento da variabilidade na idade de início da doença (r2=0.4). Nós observamos também instabilidade do segmento expandido de CAG durante a transmissäo de pais para filhos. Expansöes e contraçöes foram observadas; contudo, houve uma tendência geral para expansäo, com um aumento médio de +2,4 CAGs. Essa tendência para expansäo, pareceu ser maior nas transmissöes paternas (aumento médio de +3,5 CAGs) que nas maternas (aumento médio de +1,3 CAGs). Antecipaçäo foi observada em todas as transmissöes nas quais as idades de início para pais e filhos eram conhecidas, porém, nem todas as antecipaçöes foram acompanhadas de aumento no tamanho do segmento de CAG expandido. Em conclusäo, os nossos resultados mostram que o diagnóstico molecular da mutaçäo responsável pela MJD pode ser estabelecido em todos os indivíduos que apresentam a doença, bem como excluído naqueles portadores de outras formas de AEC.

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39 percent), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3 percent of all patients; and 6 percent in the dominantly inherited SCAs. We identified the SCA2 mutation in 6 percent of all families and in 9 percent of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 percent of all patients; and in the 44 percent of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

Clinical and molecular characteristics of a brazilian family with spinocerebellar ataxia type 1

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped:SCA1,SCA2, Machado-Joseph disease(MJD)/SCA3,SCA4,SCA5,SCA7 and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA1, MJD/SCA3 and DRPLA. We studied one Brazilian family segregating an autosomal dominant type of SCA. A total of ten individuals were examined and tested for the presence of the SCA1, MJD and DRPLA mutations. Three individuals, one male and two females, were considered affected based on neurological examination; ages at onset were: 32, 36 and 41 years. The first complaint in all three patients was gait ataxia which progressed slowly over the years. Six individuals showed one allele containing an expanded CAG repeat in the SCA1 gene. The mean size of the expanded allele was 48.2 CAG units. Instability of the expanded CAG tract was seen in the two transmissions that were observed in this family. In both occasions there was a contraction of the CAG tract. Our study demonstrates that SCA1 occurs in the Brazilian population. In addition, our results stress the importance of molecular studies in the confirmation of diagnosis and for pre-symptomatic testing in SCAs.