Repeats diseases gene contains trinucleotide repeat expansion. Medical search. Frequent questions

Andrew, S.E., Goldberg, Y.P. & Hayden, M.R. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. (nature.com)
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (cdc.gov)

Huntington's disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. (hdsa.org)
While much study has been devoted to genetic "triggers" of CNS neurodegeneration-notably mutant Htt in Huntington's disease (HD)-such inherited triggers are typically expressed from early fetal development and are fundamentally inaccessible to timely clinical intervention. (hdsa.org)
Asymptomatic individuals should be tested for Huntington disease (HD) only if they have a family history of the disease, and only after genetic counseling. (arupconsult.com)
Diagnostic genetic testing is indicated for individuals with or without a family history of HD after the onset of motor symptoms, particularly those severe enough to receive a score of 4 on the Unified Huntington's Disease Rating Scale (UHDRS) . (arupconsult.com)
Predictive genetic testing may be indicated for asymptomatic individuals with a family history of the disease. (arupconsult.com)
Because of the number of diseases in this slide, I've chosen to focus on those in boxes for the most part, and I've chosen to focus on them because I think they illustrate the key genetic principles underlying this class of mutation. (hstalks.com)
Huntington's disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. (benthamscience.com)
Genetic disorders result from new or inherited gene mutations . (amboss.com)
Huntington's Disease (HD) is an autosomal dominant genetic disease that results in progressive neurodegeneration. (frontiersin.org)
Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (cdc.gov)
Genetic testing revealed 41 CAG repeats. (mdsabstracts.org)
DM1 is a rare, progressive, genetic disease that affects skeletal, cardiac and smooth muscle. (tmcnet.com)
While some neurodegenerative diseases occur sporadically, others are caused by genetic mutations. (biologie-uni-siegen.de)
One of the most common causes of genetic neurodegeneration is expansion of short repetitive DNA sequences, for example CAG trinucleotide repeats. (biologie-uni-siegen.de)

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. (nature.com)
HDL syndromes occur in people with the characteristic features of Huntington's disease who do not have a variant (also called mutation) in the gene typically associated with that disorder. (medlineplus.gov)
For instance, if you've got a mutation caused by triplet repeat expansion, for instance in the Huntington's gene, where the trinucleotide repeats a CAG, you might have 17 CAGs in a normal chromosome. (hstalks.com)
Some occur in the coding region of the gene, others occur in the five prime region and others occur in the three prime region, and these have different consequences on the function of the gene and the results of the mutation. (hstalks.com)
The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Huntingtin. (benthamscience.com)
Mutant Huntingtin is the cause of the complex neurological metabolic alteration of Huntington's disease, resulting in both the loss of all the functions of normal Huntingtin and the genesis of abnormal interactions due to the presence of this mutation. (benthamscience.com)
YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
The mutation associated with clinical manifestations of HD is a CAG trinucleotide repeat expansion in the HD gene (3). (torvergata.it)

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. (cdc.gov)
We conclude that, at least in the rat, polyglutamine is not an essential feature of the atrophin family of genes. (johnshopkins.edu)
These diseases relate to wide group of polyglutamine disorders. (ampkpathway.com)
Objective: Polyglutamine proteins can cause a wide range of neurodegenerative disorders upon long-range expansions such as Huntington's disease and spinocerebellar ataxia (SCA). (videolectures.net)
Intermediate length of the polyglutamine coding CAG/CAA trinucleotide repeat in the ATXN2 gene was shown to be a risk factor for amyotrophic lateral sclerosis (ALS). (videolectures.net)
This fits with the hypothesis that intermediate polyglutamine expansions might not be causative but pose an increased risk for developing ALS. (videolectures.net)
Future experiments will focus on both the similarities between ATXN1 and ATXN2, such as TDP-43 binding capacity, as well as the differences, such as the CAT-interruptions in ATXN1, to further elucidate the role of polyglutamine expansions in ALS. (videolectures.net)
When translated into protein the CAG repeat encodes for a polyglutamine stretch in the disease-causing proteins. (biologie-uni-siegen.de)

Aggression is commonly reported in individuals with Huntington's disease (HD). (researchgate.net)
Variation within the Huntington's disease gene influences normal brain structure. (uni-muenchen.de)
Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. (uni-muenchen.de)
Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington's disease, influences normal human brain structure. (uni-muenchen.de)
We found an increase of GM with increasing long CAG repeat and its interaction with age within the pallidum, which is involved in Huntington's disease. (uni-muenchen.de)
Since 1999, the Huntington's Disease Society of America has committed more than $20 million to fund research, with the goal of finding effective treatments to slow Huntington's disease. (hdsa.org)
Today we continue her legacy by bringing together the entire community to provide help and hope to all families affected by Huntington's disease. (hdsa.org)
Huntington's disease affects a part of the brain called the striatum that we know is very important for controlling behavior. (hdsa.org)
The goal of our research is to develop a novel eye-movement technique to aid the diagnosis and progression monitoring of Huntington's disease (HD). (hdsa.org)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (nature.com)
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. (nature.com)
Inactivation of the mouse Huntington's disease gene homolog hdh . (nature.com)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. (nature.com)
Trottier, Y., Biancalana, V. & Mandel, J.L. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (nature.com)
As its name suggests, a Huntington's disease-like (HDL) syndrome is a condition that resembles Huntington's disease . (medlineplus.gov)
Researchers have described four HDL syndromes, designated Huntington's disease-like 1 (HDL1) through Huntington's disease-like 4 (HDL4). (medlineplus.gov)
They are much less common than Huntington's disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. (medlineplus.gov)
Other medical conditions and gene variant may also cause signs and symptoms resembling Huntington's disease. (medlineplus.gov)
Normal Htt shows a common alpha-helical structure but conformational changes in the form with beta strands are the principal cause of Huntington's disease. (benthamscience.com)
[10] It has already described abnormalities in Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis (ALS), Alzheimer's disease, and multiple sclerosis among others. (aao.org)
Microstructure damage in white matter might be linked to regional and global atrophy in Huntington's Disease (HD). (frontiersin.org)
REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. (torvergata.it)
Huntington's disease (HD) is a neurodegenerative disorder caused by an unstable CAG repeat. (torvergata.it)
Huntington's disease (HD, MIM 143100) is a progressive, neurodegenerative disorder that presents with motor disturbances, psychiatric symptoms, and cognitive decline. (torvergata.it)
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the gene coding for huntingtin (mHTT). (mdsabstracts.org)
Among the patients followed at the McGovern Medical School - Huntington's disease Society of America (HDSA) Center of Excellence, two patients with Huntington's disease have been diagnosed with high grade gliomas. (mdsabstracts.org)
Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. (mdsabstracts.org)
Altered ERK1/2 and PDK1 phosphorylation have been described in Huntington's disease (HD), characterized by the expression of mutant huntingtin (mhtt) and striatal degeneration. (biomedcentral.com)
Huntington's disease (HD) is a neurodegenerative disorder caused by a dominantly heritable expansion of a trinucleotide CAG repeat in the huntingtin (htt) gene [ 15 ], and characterized by the preferential neurodegeneration of striatal medium-sized spiny neurons [ 16 ]. (biomedcentral.com)

These diseases are all caused by microsatellite mutations, where a microsatellite either has three bases, four bases, five bases, or six bases, and these mutations result in excess numbers of copy of these particular units. (hstalks.com)
What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
Which subtype of autosomal recessive ataxia is characterized by the absence of cerebellar Purkinje cells and is caused by mutations in the gene that encodes a protein involved in the transport of copper? (neurologylive.com)
In addition to this there are some types of SCAs caused by other DNA mutations with other trinucleotide repeat expansion nucleotide repeats in non-coding regions of appropriate genes or non-repeat mutations and deletions. (ampkpathway.com)

One of the problems arising from the misfolded Huntingtin is the increase in oxidative stress, which is common in many neurological diseases such as Alzheimer's, Parkinson's, Amyotrophic Lateral Sclerosis and Creutzfeldt-Jakob disease. (benthamscience.com)
It is caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin ( HTT ) gene on chromosome 4, which is responsible for the expression of the protein huntingtin ( Nance, 2017 ). (frontiersin.org)

In 278 normal subjects, we determined CAG repeat length within the IT15 gene on chromosome 4 and analyzed high-resolution T1-weighted magnetic resonance images by the use of voxel-based morphometry. (uni-muenchen.de)
But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
DRPLA is caused by an unstable expansion of a CAG trinucleotide repeat coding for glutamine in a gene of unknown function, termed atrophin-1, located on chromosome 12. (johnshopkins.edu)

In fact, we know that in people with other diseases that involve the striatum such as Parkinson's disease, these symptoms are related to abnormal reward signals in the striatum. (hdsa.org)
As the disease progresses, these abnormal movements become more pronounced. (medlineplus.gov)
This variant increases the length of a repeated segment of DNA within the gene, which leads to the production of an abnormal PRNP, JPH3, or TBP protein. (medlineplus.gov)
It is a monogenic, autosomal dominant disease caused by an abnormal trinucleotide expansion in a region of the DMPK gene. (tmcnet.com)
This abnormal binding can lead to both: a loss of physiological function of the RNA-binding proteins and a gain of function of these proteins at the mutant CAG repeat RNA. (biologie-uni-siegen.de)

Neurodegenerative diseases (NDDs) are devastating disorders which impair memory, cognition, movements, and general functioning. (aao.org)
Innate immunity is central to the pathophysiology of neurodegenerative disorders, but it remains unclear why immunity is altered in the disease state and whether changes in immunity are a cause or a consequence of neuronal dysfunction. (shengsci.com)
Test your mettle each week with 3 questions that cover a variety of aspects in the field of neurology, with a focus on dementia and Alzheimer disease, epilepsy and seizure disorders, headache and migraine, movement disorders, multiple sclerosis, neuromuscular disorders, sleep disorders, and stroke and cerebrovascular disease. (neurologylive.com)
Neurodegenerative disorders such as for example spinocerebellar ataxias (SCAs) and Alzheimer's disease (AD) represent an enormous medical and medical question however the molecular mechanisms of the diseases remain not yet determined. (ampkpathway.com)
The so-called CAG repeat diseases are characterized by symptoms such as the progressive loss of cognitive abilities and progressive movement disorders. (biologie-uni-siegen.de)
Although each of the CAG repeat expansion disorders is rare, together they represent one of the most common forms of inherited neurodegeneration. (biologie-uni-siegen.de)

Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the risk of FECD in some populations. (edu.au)

Variants in the PRNP , JPH3 , and TBP genes have been found to cause the signs and symptoms in some of these individuals. (medlineplus.gov)
HDL1 is caused by variants in the PRNP gene, while HDL2 results from variants in JPH3 . (medlineplus.gov)
The PRNP , JPH3 , and TBP genes provide instructions for making proteins that are important for normal brain function. (medlineplus.gov)

Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein 1 . (nature.com)
With increasing repeat number, the protein changes conformation and becomes increasingly prone to aggregation 11 , suggesting important functional correlations between repeat length and pathology. (nature.com)
Furthermore, we believe that these results could signal the potential for the accumulation of exon 51 skipped transcript and dystrophin protein in muscle tissue with repeated doses of PGN-EDO51 in people living with DMD. (tipranks.com)
The 1006-amino-acid product of this gene, which we have termed rat atrophin related protein(rARP), does not contain a glutamine repeat, but it does contain two regions of alternating acidic and basic amino residues similar to those found in atrophin-1. (johnshopkins.edu)
In addition to encoding neurotoxic protein species, the CAG repeat RNA can have a toxic function itself. (biologie-uni-siegen.de)
For example, we have identified a protein complex, which binds to and induces aberrant translation of mRNAs containing mutant CAG repeats. (biologie-uni-siegen.de)
Interestingly, the same protein complex promotes pathology in other diseases including sporadic neurodegenerative diseases, suggesting that deregulation of common cellular pathways may contribute to development of otherwise unrelated diseases. (biologie-uni-siegen.de)

Our results show that Msh2 is required for somatic instability of the CAG repeat. (nature.com)
Figure 3: Levels of CAG repeat instability in various tissues from Msh2 -/- , Msh2 +/- and Msh2 +/+ mice. (nature.com)
Those with intermediate alleles are prone to this repeat instability and may have children with an HD-causing allele. (arupconsult.com)

A higher number of CAG repeats is associated with an earlier age of onset. (arupconsult.com)
The number of repeats determines the risk and likely age of onset for symptom development. (arupconsult.com)
This group of diseases is also characterized by an insidious onset in which neuropathological changes develop years before clinical presentation. (aao.org)
Using the largest cohort of HD patients analyzed to date (2913 individuals from 40 centers worldwide), we developed a parametric survival model based on CAG repeat length to predict the probability of neurological disease onset (based on motor neurological symptoms rather than psychiatric onset) at different ages for individual patients. (torvergata.it)
We provide estimated probabilities of onset associated with CAG repeats between 36 and 56 for individuals of any age with narrow confidence intervals. (torvergata.it)
Almost all of the previous reports (4-19) concerning age of onset and HD have been based only on onset ages for CAG-expanded individuals with manifest disease, leading to possible bias from ignoring age distributions among those who have not developed the illness (4). (torvergata.it)
The age of onset of the disease varies inversely with the number of CAG repeats. (jci.org)
Individuals with juvenile onset usually have over 55 repeats, and they usually inherit the gene from their father. (jci.org)
In 189 unrelated Australian cases with advanced late-onset FECD and 183 matched controls, the TGC repeat polymorphism located in intron 3 of TCF4 was genotyped using a short tandem repeat (STR) assay. (edu.au)

Individuals with intermediate alleles (27-35 cytosine-adenine-guanine [CAG] repeats) typically do not have symptoms of Huntington disease (HD). (arupconsult.com)
In a population of 250 individuals , there will be a total of 500 gene copies (all individuals carry two alleles of a gene ). (amboss.com)
The considered normal alleles have less than 27 CAG repeats. (geneticsmr.com)
Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.com)

WALTHAM, Mass., Sept. 20, 2023 (GLOBE NEWSWIRE) -- Dyne Therapeutics, Inc. (Nasdaq: DYN), a clinical-stage muscle disease company focused on advancing innovative life-transforming therapeutics for people living with genetically driven diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation for DYNE-101 for the treatment of myotonic dystrophy type 1 (DM1). (tmcnet.com)

Magnetic resonance imaging (MRI) is a non-invasive technique that provides insight about diagnosis and treatment for neurological diseases. (frontiersin.org)

DYNE-101 consists of an antigen-binding fragment antibody (Fab) conjugated to an antisense oligonucleotide (ASO) and is designed to enable targeted muscle tissue delivery with the goal of reducing toxic DMPK RNA in the nucleus, releasing splicing proteins, allowing normal mRNA processing and translation of normal proteins, and potentially stopping or reversing the disease. (tmcnet.com)
This expansion of CTG repeats causes toxic RNA to cluster in the nucleus, forming nuclear foci and altering the splicing of multiple proteins essential for normal cellular function. (tmcnet.com)
In our studies we have identified a set of proteins that aberrantly bind to mutant CAG repeats. (biologie-uni-siegen.de)

Our study demonstrates that a certain trinucleotide repeat influences normal brain structure in humans. (uni-muenchen.de)
In the early stages of HD, most of the disease in the brain is in the striatum. (hdsa.org)
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (nature.com)
Although the brain areas affected by the disease are well established, the mechanisms by which neural dysfunction and neurodegeneration occurs are not well defined yet. (biomedcentral.com)

Interestingly, in contrast to ATXN2, we found a relative high frequency of intermediate expansions in ATXN1 in both ALS (1-2% in ATXN2 vs 6-7% in ATXN1) and control individuals (0.3-0.4% in ATXN2 vs 5-6% in ATXN1). (videolectures.net)

Exon 1 contains a CAG trinucleotide repeat that encodes the amino acid glutamine, followed by another repeat that encodes proline. (jci.org)

Involvement of other CAG-repeat genes has only been moderately investigated or reported, although an association was found with intermediate length in the ATXN1 in a small Italian cohort after discovery of a pedigree with co-occurrence of ALS and SCA1 disease. (videolectures.net)
After identification of a similar pedigree, we set out to investigate the frequency of ATXN1 intermediate expansions in a large international cohort of ALS patients and controls. (videolectures.net)
An intermediate cut-off was determined via control distribution and was found to be at 33 CAG/CAT repeats and higher. (videolectures.net)
Results: We found 242 (11.4%) intermediate expansion carriers in control individuals and 333 (13.8%) in ALS patients. (videolectures.net)

Huntington disease (HD) is a progressive, hereditary, neurodegenerative disorder that is characterized by abnormalities in motor skills, cognitive skills, and psychiatric changes. (arupconsult.com)

However, large expansions of the CAG repeat region can occur during sperm formation. (arupconsult.com)

Should asymptomatic individuals be tested for Huntington disease? (arupconsult.com)
Polymerase chain reaction (PCR) testing and size analysis for an expanded number of cytosine-adenine-guanine (CAG) trinucleotide repeats in the HTT gene may be performed for both symptomatic individuals and asymptomatic individuals with a family history of HD. (arupconsult.com)
Persons affected with HD have a CAG repeat length (CAG) between 36 and 250, though some individuals with a CAG less than 42 will never show symptoms (4-8). (torvergata.it)
In unaffected individuals, there are 10-34 CAG repeats. (jci.org)

The focus of my talk is going to be on the genetics of these diseases, and I'll talk very little about the functional biology of these conditions. (hstalks.com)
Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)

Turnbull, D. Ageing and Parkinson's disease: why is advancing age the biggest risk factor? (benthamscience.com)

HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor, psychiatric, and cognitive dysfunction. (jci.org)

The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
The other key point of the slide is to show that these diseases are typically either neurological, neurodegenerative, or neuromuscular. (hstalks.com)

Variants in the TBP gene are responsible for HDL4 (also known as spinocerebellar ataxia type 17). (medlineplus.gov)
Spinocerebellar Ataxia type 3, also known as Machado-Joseph disease, is caused by the expansion of a repeated DNA sequence within a specific gene. (neurologylive.com)

Structurally, mutant CAG repeat RNA differs from the physiological RNA: the expanded CAG repeats fold into characteristic hairpin structures. (biologie-uni-siegen.de)

Alzheimer's disease (AD) is the most common NDD, affecting an estimated 5 million Americans. (aao.org)

However, the role of Rsk in this neurodegenerative disease remains unknown. (biomedcentral.com)

which means both copies of the gene in each cell must have a variant to cause the disorder. (medlineplus.gov)

Zuo, L. Oxidative stress in neurodegenerative diseases: from molecular mechanisms to clinical applications. (benthamscience.com)
Sadly, the clinical picture is often ambiguous until the disease is advanced and a significant amount of neuronal tissue has been irreversibly lost. (aao.org)

Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
An in-depth knowledge of the cellular mechanisms that contribute to the disease development is a prerequisite for the development of therapeutic approaches. (biologie-uni-siegen.de)

The expansion is thought to occur via slippage during the DNA replication process. (jci.org)

We extend our heartfelt appreciation to the participants in our Phase 1 HNV trial for their role in supporting our mission to develop transformative therapies for people living with DMD and other devastating neuromuscular diseases. (tipranks.com)

In about one percent of people with the characteristic features of Huntington disease, no variants in the HTT gene has been identified. (medlineplus.gov)

Furthermore, the repeat expansion showed stronger association than the most significantly associated SNP, rs613872, in TCF4 , with the disease in the Australian cohort. (edu.au)

Since these symptoms happen even in the early stages of the disease, can these symptoms be explained by an inability of the striatum to properly signal rewards? (hdsa.org)
Although there is no known cure for HD, a diagnosis may enable treatment of some of the physical and psychiatric symptoms, which can be managed with pharmacologic therapy in the earlier stages of the disease. (arupconsult.com)
A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. (medlineplus.gov)
motor symptoms (chorea, ataxia) at age 36 and was diagnosed with HD with 60 CAG repeats. (mdsabstracts.org)

Because of these advantages, OCT is now being explored as a potential tool to identify retinal changes in patients early in the course of NDDs, and to allow quantifiable, objective monitoring of axonal and neuronal loss with disease progression. (aao.org)

Meta-analysis of the frequencies in the 4 different cohorts showed significantly more expanded repeats in ATXN1 in ALS patients compared to controls (p = 0.006, one sided) with an odds ratio of 1.25 (95% CI: 1.05- 1.50). (videolectures.net)

Molecular Therapy : The Journal of the American Society of Gene Therapy. (vub.be)

Orphan drug designation is granted by the FDA to drugs or biologics intended for treatment, prevention or diagnosis of a rare disease or condition that affects fewer than 200,000 people in the United States. (tmcnet.com)

Dyne has generated comprehensive preclinical data supporting its DM1 program, including reduction of nuclear foci and correction of splicing in patient cells, robust knockdown of toxic human nuclear DMPK RNA and correction of splicing in a novel in vivo model developed by Dyne, and reversal of myotonia in a disease model. (tmcnet.com)

As the variant responsible for HDL2 or HDL4 is passed down from one generation to the next, the length of the repeated DNA segment may increase. (medlineplus.gov)
The repeat length was verified by direct sequencing in selected homozygous carriers. (edu.au)
Methods: We screened the ATXN1 CAG/CAT trinucleotide repeat length via PCR in DNA of 2,742 ALS patients and 2,374 controls from 4 different countries (Belgium, France, Ireland and The Netherlands). (videolectures.net)
Interpretation: Similar to ATXN2, there is an association with an increased length of CAG(/CAT) trinucleotide repeats in ATXN1 and ALS. (videolectures.net)

Anatomy2

Organisms2

Diseases18

Chemicals and Drugs15

Analytical, Diagnostic and Therapeutic Techniques and Equipment6

Psychiatry and Psychology2

Phenomena and Processes36

Information Science3

Health Care1

Phenotype2

Genetic15

Mutation9

Polyglutamine8

Huntington's Disease30

Mutations4

Huntingtin2

Chromosome4

Abnormal5

Disorders6

Nucleotide1

JPH33

Protein7

Instability3

Onset9

Alleles4

20231

Neurological diseases1

Proteins3

Brain4

Interestingly1

Encodes1

Intermediate4

Hereditary1

Sperm1

Individuals4

Genetics2

Parkinson's1

Autosomal dominant1

Typically2

Spinocerebellar ataxia2

Mutant1

Alzheimer's1

Neurodegenerative disease1

Copies1

Clinical2

Mechanisms2

Occur1

Neuromuscular1

Characteristic1

Cohort1

Symptoms4

Progression1

Significantly1

Molecular1

Diagnosis1

Toxic1

Length4