Susan E. Ide

Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

Parkinsons disease (PD) is the second most common neurodegenerative disorder after Alzheimers disease, affecting approximately 1 percent of the population over age 50. Recent studies have confirmed significant familial aggregation of PD and a large number of large multicase families have been documented. Genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380. This finding will facilitate identification of the gene and research on the pathogenesis of PD.

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

Recentemente foi detectada mutacao missense G209A no gene da alfa-sinucleina em uma grande familia com doenca de Parkinson (DP) de Contursi, Italia. Este estudo tem o objetivo de determinar se a mutacao G209A esta presente em 10 familias brasileiras com DP. Pacientes com DP foram recrutados em clinicas de disturbio do movimento no Brasil. O criterio de inclusao no estudo foi a presenca de dois ou mais familiares acometidos pela DP. A mutacao G209A do gene da alfa-sinucleina foi pesquisada usando a tecnica de reacao em cadeia de polimerase e a enzima de restricao Tsp45I. Foram estudados 10 pacientes de familias nao-relacionadas. A idade media do inicio dos sintomas da DP foi 42,7 anos. Nao encontramos a mutacao estudada neste grupo de pacientes. Nossos resultados sugerem que a mutacao G209A e incomum em familias brasileiras com DP.A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinsons disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish

Abstract Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16.1. This disorder is characterized by disproportionate dwarfism, polydactyly, cleft palate, natal teeth, and congenital heart disease. The MSX1 homeobox gene also maps to the 4p16.1 region. Msx gene transcripts in the mouse embryo are known to be involved in pattern formation of the developing limb bud and craniofacial bones. Thus, on the basis of both map location and known gene function, MSX1 was an excellent candidate as the causative gene for EVC. Nonetheless, direct DNA sequencing of both exons of the MSX1 gene in five affected individuals segregating with the EVC phenotype, as well as those of two obligate carriers, revealed no mutations in the coding region of the gene.

Mutação G209A no gene da alfa-sinucleína em famílias brasileiras com doença de Parkinson

Recentemente foi detectada mutacao missense G209A no gene da alfa-sinucleina em uma grande familia com doenca de Parkinson (DP) de Contursi, Italia. Este estudo tem o objetivo de determinar se a mutacao G209A esta presente em 10 familias brasileiras com DP. Pacientes com DP foram recrutados em clinicas de disturbio do movimento no Brasil. O criterio de inclusao no estudo foi a presenca de dois ou mais familiares acometidos pela DP. A mutacao G209A do gene da alfa-sinucleina foi pesquisada usando a tecnica de reacao em cadeia de polimerase e a enzima de restricao Tsp45I. Foram estudados 10 pacientes de familias nao-relacionadas. A idade media do inicio dos sintomas da DP foi 42,7 anos. Nao encontramos a mutacao estudada neste grupo de pacientes. Nossos resultados sugerem que a mutacao G209A e incomum em familias brasileiras com DP.A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinsons disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

Linkage and cytogenetic mapping of a CAG repeat containing human cDNA to 3p24.2-p22

A trinucleotide (CAG)n repeat containing cDNA was isolated from a human cDNA library and sequenced. The locus was mapped by linkage analysis in the CEPH families and by cytogenetic analysis to 3p24.2-p22. We have additionally excluded this gene as a candidate for small cell lung carcinoma by the analysis of cell lines carrying homozygous deletions for the 3p chromosomal region.