K. Lindblad

TL;DR: It is possible that the CAG trinucleotide repeat expansion is involved in the clinical expression of BPAD and that it is the molecular basis explaining the phenomenon of anticipation observed in this disorder.

TL;DR: Using repeat expansion detection (RED), a method in which a thermostable ligase is used to detect repeat expansions directly from genomic DNA, 8 SCA7 families were analyzed for the presence of CAG repeat expansions, indicating strongly that a CAG expansion is the cause ofSCA7.

TL;DR: It is concluded that expanded alleles at the CTG18.1 locus confers an odds ratio of 2.6–2.8 and may thus act as a vulnerability factor for affective disorder, while the ERDA1 loci seems unrelated to disease.

TL;DR: The findings of anticipation in BP disorders and in UPR must be interpreted with caution because of the possible presence of numerous ascertainment biases, but they support the hypothesis that pathological TREs are implicated in the transmission of thesemore disorders.

TL;DR: Linkage analysis in two large families with FPCA/-M that also demonstrated neurodegenerative pathology of the cerebellum is performed, and a CAG trinucleotide-repeat expansion was detected in one family but did not cosegregate with the disease.