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2,627 Possible Causes for 20, Gene, Repeat Containing, Trinucleotide

  • Spinocerebellar Ataxia Type 1

    The normal alleles had 9-37 repeats, whereas disease alleles contained 44-64 repeats.[ncbi.nlm.nih.gov] These ocular changes were considered specific to patients who had the expanded allele of the repeated trinucleotide in the SCA1 gene.[ncbi.nlm.nih.gov] Visual acuities ranged between 20/20 and 20/200. Visual fields revealed central scotomas in most of the eyes, and funduscopy was unremarkable in most patients.[ncbi.nlm.nih.gov] […] changes and somatic mosaicism of the CAG repeat size in the central nervous system of patients with these two ataxias, we determined the size of the (CAG)n expansion in 20[ncbi.nlm.nih.gov]

  • Huntington's Disease

    METHODS: In the European REGISTRY study 2669 HD expansion gene carriers underwent annual cognitive assessment.[ncbi.nlm.nih.gov] Abstract Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene.[doi.org] An antisense transcript to huntingtin is generated that contains a CUG repeat that is expanded in HD patients.[ncbi.nlm.nih.gov] Adult onset inevitably lead to death in 15 - 20 years, and the juvenile form in 7 - 8 years.[web.archive.org]

  • Spinal and Bulbar Muscular Atrophy

    The SBMA mouse models developed so far, and used in preclinical studies, all contain an expanded CAG repeat significantly longer than that of SBMA patients.[ncbi.nlm.nih.gov] We developed antisense oligonucleotides that suppressed AR gene expression in the periphery but not the CNS after subcutaneous administration.[ncbi.nlm.nih.gov] Abstract We studied exonic trinucleotide repeats and expression of androgen receptor (AR) gene in the spinal cord from an autopsied patient with X-linked spinal and bulbar[ncbi.nlm.nih.gov] , with a comparison of their cognitive performance with that of 20 age- and education-matched control subjects.[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia Type 6

    The isolation of CAG repeat containing genes from cDNA libraries ( 30 – 32 ) will most likely accelerate further identifications of trinucleotide diseases.[doi.org] Abstract The expansion of polyglutamine tracts encoded by CAG trinucleotide repeats is a common mutational mechanism in inherited neurodegenerative diseases.[ncbi.nlm.nih.gov] ., n 15) with a range of 20-29, and the shortest expanded allele was 20 repeats.[ncbi.nlm.nih.gov] The (CAG)n stretch of the affected allele varied between 22 and 28 trinucleotide units and is therefore the shortest trinucleotide repeat expansion causing spinocerebellar[ncbi.nlm.nih.gov]

  • Friedreich Ataxia

    Abstract Friedreich ataxia patients are homozygous for expanded GAA triplet-repeats containing 66 to 1,700 triplets.[ncbi.nlm.nih.gov] Hum Gene Ther. 2014 Aug;25(8):684-93. doi: 10.1089/hum.2013.180. Epub 2014 Jun 19.[ncbi.nlm.nih.gov] Frataxin levels were higher than in homozygous trinucleotide expansion patients.[ncbi.nlm.nih.gov] RESULTS: Both the FARS and ICARS demonstrated greater change in the first 20 years post disease onset than in the subsequent 20 years during which there was little change[ncbi.nlm.nih.gov]

  • Dentatorubral-Pallidoluysian Atrophy

    Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16 , 572–579 (1993). 9 Koide, R. et al .[doi.org] The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.[nature.com] On the other hand, patients with non-PME phenotype showed later ages of onset (onset after age 20) and smaller expansions (54-67 repeats).[ncbi.nlm.nih.gov] Analysis of the DRPLA gene of leukocytes showed CAG repeat sizes to be 64/17 in the proband, 58/20 in her brother, and 56/8 in their mother.[ncbi.nlm.nih.gov]

  • Fragile X Syndrome

    In fragile X-associated tremor ataxia syndrome, a toxic gain of function is postulated with the production of excess CGG repeat-containing FMR1 mRNA, abnormal translation[ncbi.nlm.nih.gov] These are the first variants described in the promoter of the FMR1 gene. Copyright 2000 Academic Press.[ncbi.nlm.nih.gov] Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed gene silencing mediated by direct interactions of the trinucleotide-repeat RNA and DNA.[doi.org] 20 individuals diagnosed with the FXS), which were matched for gender and age.[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia, Type 2

    RESULTS: We demonstrate the expression of a transcript, containing the repeat as a CUG tract, derived from a gene (ATXN2-AS) directly antisense to ATXN2.[ncbi.nlm.nih.gov] BACKGROUND: Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar[ncbi.nlm.nih.gov] At age 29 years, an abnormal expansion of the CAG trinucleotide repeat in the ataxin-2 gene on chromosome 12 was identified.[ncbi.nlm.nih.gov] 2017, Lancaster Theological Seminary, Ballock's review: "Female Cialis 20 mg, 10 mg. Order online Female Cialis cheap no RX.".[policeunitytour.com]

  • Oculopharyngeal Muscular Dystrophy

    In almost all cases the cause of the disease is the expansion of a DNA repeat sequence containing GCG and GCA codons in exon 1 of the PABPN1 gene from 10 to between 12 and[ncbi.nlm.nih.gov] These results pave the way towards a gene replacement approach for OPMD treatment.[ncbi.nlm.nih.gov] […] allele contains six trinucleotide repeats of GCG (GCG)(6).[ncbi.nlm.nih.gov] Forty patients were enrolled: 20 OPMD patients requiring general anesthesia for cricopharyngeal myotomy and 20 age-matched controls undergoing an operation of similar duration[ncbi.nlm.nih.gov]

  • Fragile X-Associated Tremor - Ataxia Syndrome

    In fragile X-associated tremor ataxia syndrome, a toxic gain of function is postulated with the production of excess CGG repeat-containing FMR1 mRNA, abnormal translation[ncbi.nlm.nih.gov] The gene product FMRP is involved in regulation of transport and translation of certain mRNA in the dendrite, thereby affecting synaptic plasticity.[ncbi.nlm.nih.gov] PM carriers bear an expanded CGG trinucleotide repeat on the Fragile X Mental Retardation 1 (FMR1) gene, and are at risk for developing the late onset neurodegenerative disorder[ncbi.nlm.nih.gov] Tidsskr Nor Laegeforen. 2017 Oct 30;137(20). doi: 10.4045/tidsskr.17.0317. Print 2017 Oct 31.[ncbi.nlm.nih.gov]