A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes.

We describe the clinical phenotype and pathology of a new autosomal dominant late-onset familial form of Alzheimer's disease in four extensive kindred originated in a genetically isolated population. Twelve affected and 16 unaffected members of these kindred were examined clinically, and a brain post-mortem study was carried out in one case. The preliminary genetic assessment included complex segregation analysis, evaluation of the power to detect linkage, and exclusion of candidate genes.

[Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease].

Introduction: The dominant autosomic ataxias are a group of neurodegenerative disorders caused by expansion of a CAG triplet in different genes, found along the genome. The dominant autosomic ataxias present very varied clinical findings. However, genetic studies are being done to establish the genotype-phenotype relationship of the different autosomal dominant ataxias.