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From: Trinucleotide Repeat Expansion and Neuropsychiatric Disease
Arch Gen Psychiatry. 1999;56(11):1019-1031. doi:10.1001/archpsyc.56.11.1019
Figure Legend:
The molecular basis for anticipation in repeat expansion diseases. Data are from the Baltimore (Md) Huntington's Disease Center.
Left, Increase in repeat length with paternal transmission of Huntington disease (HD). Points above the diagonal line represent
cases in which the repeat length increased during transmission from father to child (N = 84 pairs, mean ± SD increase of repeat
length = 4.2 ± 0.8 triplets). Right, Correlation of repeat length with age at onset in HD. As repeat length increases, age at onset of
disease decreases (N = 480, r2 = 0.57).
Date of download: 5/5/2017
From: Trinucleotide Repeat Expansion and Neuropsychiatric Disease
Arch Gen Psychiatry. 1999;56(11):1019-1031. doi:10.1001/archpsyc.56.11.1019
Figure Legend:
Anticipation in Huntington disease (HD) (left) and affective disorder (right). The age at which affected parents and their affected
offspring first manifest disease symptoms is depicted as a survival curve. In both HD and affective disorder, the younger generation
is affected at a substantially earlier age than their parents. (Subjects with affective disorder are from the Johns Hopkins Bipolar
Project [Baltimore, Md]: parents, N = 36; offspring, N = 97. Subjects with HD are from the Baltimore Huntington's Disease Center:
parents, N = 61; offspring, N = 82.)
Date of download: 5/5/2017
From: Trinucleotide Repeat Expansion and Neuropsychiatric Disease
Arch Gen Psychiatry. 1999;56(11):1019-1031. doi:10.1001/archpsyc.56.11.1019
Figure Legend:
Genetic locations of repeat expansions. Repeat expansions that cause disease have been detected in flanking and intronic regions,
transcribed but untranslated regions, and protein coding regions (orange). Expansions within protein coding regions tend to be
smaller than those in other genic regions. EPM1 indicates progressive myoclonic epilepsy type 1; SCA, spinocerebellar ataxia;
OPMD, oculopharyngeal muscular dystrophy; MED, multiple epiphyseal dysplasia; HD, Huntington disease; DRPLA, dentatorubralpallidoluysian atrophy; and SBMA, spinal and bulbar muscular atrophy.
Date of download: 5/5/2017
From: Trinucleotide Repeat Expansion and Neuropsychiatric Disease
Arch Gen Psychiatry. 1999;56(11):1019-1031. doi:10.1001/archpsyc.56.11.1019
Figure Legend:
Molecular pathogenesis of Huntington disease (HD) and the fragile X (FraX) syndrome. Left, The effect of a CAG repeat expansion
in the Htt gene. Within the nucleus (yellow), genes with either a normal CAG repeat or an expanded CAG repeat are transcribed into
messenger RNA (mRNA), with normal excision of introns and splicing together of exons. Outside the nucleus, mRNA with either a
normal or a long CAG repeat is translated into protein. The CAG repeat itself, located within a protein coding region (blue), is
translated into a stretch of the amino acid glutamine (Q). The mutant protein, containing an excessively long polyglutamine (polyQ)
Date
of download:
5/5/2017
repeat,
takes on an
abnormal conformation that confers new and toxic properties to the protein. Right, The effect of an expansion of
the CGG repeat in the FraX mental retardation type 1 (FMR1) gene. In FMR1 with a normal-length repeat, the gene is transcribed