What is the Pathogenic CAG Expansion Length in Huntington’s Disease?
Huntington’s disease (HD) (OMIM 143100) is caused by an expanded CAG repeat tract in the HTT gene. The inherited CAG length is known to expand further in somatic and germline cells in HD subjects.
The Huntington Gene - UC Davis Huntington's Disease Center …
The gene responsible for HD contains a sequence with several CAG repeats (Cytosine, Adenine, Guanine). We all have these CAG repeats in the gene that codes for the huntingtin protein, but people with HD have a greater number than usual of CAG repeats in …
Association of CAG Repeats With Long-term Progression in Huntington Disease
Huntington disease is a slowly progressing, inherited neurological disorder caused by an expansion of the CAG trinucleotide sequence in the huntingtin gene (OMIM 613004). It presents as a triad of motor, cognitive, and neuropsychiatric impairments, with subtle signs developing many years before clinical onset.
CAG-Repeat Length and the Age of Onset in Huntington Disease …
The relationship between CAG repeat length and age of onset differs for Huntington’s disease patients with juvenile onset or adult onset. Ann Hum Genet. 2007b;71(Pt 3):295–301. doi: 10.1111/j.1469-1809.2006.00335.x.
Huntington's disease - MedlinePlus
In people with Huntington's disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington's disease, while people with 40 or more repeats almost always develop the disorder.
Huntington Disease - StatPearls - NCBI Bookshelf
Aug 23, 2023 · Huntington disease is an autosomal dominant disorder caused by the elongation of CAG repeats on the short arm of chromosome 4p16.3 in the HTT gene. The gene encodes for the HTT protein, which plays a role in the synaptic function and also plays a crucial role in the post-embryonic period.
Longer CAG repeat length is associated with shorter survival after ...
Huntington disease (HD) (MIM: 143100) is an autosomal-dominant nervous system disease caused by abnormally long expansion of CAG trinucleotide repeats within the huntingtin (HTT) gene (MIM: 613004). The age of onset is well known to be strongly influenced by CAG expansion-length 1 (hereafter referred to as CAG length).
Overview of Huntington’s Disease
Huntington’s disease (HD) is a brain disease that is passed down in families from generation to generation. It is caused by a mistake in the DNA instructions that build our bodies and keep them running. DNA is made up of thousands of genes, and people with HD have a small error in one gene, called huntingtin.
Huntington disease: new insights into molecular pathogenesis …
Aug 14, 2020 · Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms. Mutant HTT (mHTT)...
CAG repeat expansion in the Huntington’s disease gene shapes …
Oct 13, 2023 · Huntington’s disease (HD) is a hereditary, fatal neurodegenerative disorder caused by a CAG trinucleotide expansion within exon 1 of the HTT gene [1]. Explicit clinical onset typically occurs in mid-life and leads to an inexorable decline to death after 10–15 years [2].