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Mashup Score: 0Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range - 4 year(s) ago
In some Huntington disease (HD) patients, the “loss of interruption” (LOI) variant eliminates an interrupting codon in the HTT CAG-repeat tract, which causes earlier age of onset (AOO). The magnitude of this effect is uncertain, since previous studies included few LOI carriers, and the variant also causes CAG size misestimation. We developed a rapid LOI detection screen, enabling unbiased…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 0A Double Whammy: Psychosis and Huntington Disease - 4 year(s) ago
When the patient has significant comorbid psychiatric problems, high risk of suicide, and Huntington disease, the role of clinician spills over into patient advocate in a complex medical system.
Source: Psychiatric TimesCategories: Latest Headlines, PsychiatryTweet-
A Double Whammy: Psychosis and #HuntingtonDisease https://t.co/05qkSHeqPb #mentalhealth
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Mashup Score: 8Huntington disease brain changes ID'd 24 years before symptoms - 4 year(s) ago
(HealthDay)—The earliest brain changes due to Huntington disease (HD) can be detected in cerebrospinal fluid (CSF) 24 years before clinical symptoms show, according to a study published in the June 1 issue of The Lancet Neurology.
Source: medicalxpress.comCategories: General Medicine News, Latest HeadlinesTweet-
#Huntingtondisease brain changes ID'd 24 years before symptoms @TheLancet https://t.co/j6aHePojLB
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Mashup Score: 0Huntingtin-Lowering Therapies for Huntington Disease - 4 year(s) ago
This review examines data from human and animal studies of the altered huntingtin protein associated with Huntington disease to assess the risk-benefit profile of huntingtin-lowering therapies for the treatment of people with Huntington disease.
Source: jamanetwork.comCategories: Latest Headlines, NeurologyTweet-
New evidence supports a positive risk-benefit profile for treatment with HTT-lowering ASO therapies that target either both HTT alleles or the variant HTT allele in adults with #Huntingtondisease https://t.co/Jf2IaOozDN
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Mashup Score: 11Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease - 4 year(s) ago
Background The huntingtin gene ( HTT ) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments. Objective This prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet-
Genotyping single nucleotide polymorphisms for allele-selective therapy in #Huntingtondisease https://t.co/IMkazr0mbe #Neurology https://t.co/P3DsgpNLa4
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Mashup Score: 0
An abstract is unavailable.
Source: LWWCategories: Latest Headlines, NeurologyTweet-
A mouse study demonstrates that certain #transcriptionfactors to the #striatum can safely and effectively convert astrocytes to #neurons to treat #Huntingtondisease. cc: @NatureComms https://t.co/SrTezIPLXI https://t.co/08HiqfiqGV
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Mashup Score: 2Huntingtin-Lowering Therapies for Huntington Disease - 4 year(s) ago
This review examines data from human and animal studies of the altered huntingtin protein associated with Huntington disease to assess the risk-benefit profile of huntingtin-lowering therapies for the treatment of people with Huntington disease.
Source: jamanetwork.comCategories: NeurologyTweet-
New evidence supports a positive risk-benefit profile for treatment with HTT-lowering ASO therapies that target either both HTT alleles or the variant HTT allele in adults with #Huntingtondisease https://t.co/6IfWFMt91Y
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#Huntingtondisease LOI variant causes onset significantly earlier than expected based on CAG length https://t.co/3XXzHVIDpM https://t.co/haReO6CKmp