Autopsy-proven Huntington's disease with 29 trinucleotide repeats.

Huntington's disease: genetic heterogeneity in black African patients.

OBJECTIVE Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant- Huntington's disease-like 2 (HDL2)--occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded as a way of excluding classic HD. The objective of this paper is to describe a num...

Expanded CAG trinucleotide repeat of Huntington's disease gene in a patient with schizophrenia and normal striatal histology.

Therapeutic Advances in the Management of Huntington’s Disease

Trinucleotide repeat disorders are a set of genetic disorders characterized by the expansion of certain genes of a segment of DNA that contains a repeat of three nucleotides, thus exceeding the normal stable threshold. These repeats in the DNA cause repeats of a specific amino acid in the protein sequence, and it is the repeated amino acid that results in a defective protein. Huntington's disea...

Further family with autosomal dominant patent ductus arteriosus.

1 Caine ED, Shoulson T. Psychiatric syndrome in Huntington's disease. AmJPsychiatry 1983; 140:728-33. 2 Seeman P, Niznik HB, Guan HC, et al. Link between DI and D2 dopamine receptor is reduced in schizophrenia and Huntington's disease brain. Proc Natl Acad Sci USA 1989; 86:10156-60. 3 MacDonald ME, Ambrose CM, Duyao MP, et al. A novel gene containing a trinucleotide repeat that is expanded and ...

Variation within the Huntington's Disease Gene Influences Normal Brain Structure

Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington's disease, influences normal human ...