Huntington's disease - MedlinePlus
Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington's disease, the most common form of this disorder, usually appears in a person's thirties or forties.
Huntingtin - Wikipedia
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
Huntington’s Disease: What It Is, Symptoms & Treatment - Cleveland Clinic
2023年9月27日 · Huntington’s disease is an inherited condition that causes brain cells to slowly lose function and die. It affects the cells in parts of your brain that regulate voluntary movement and memory. Common symptoms include uncontrollable movements and changes to your thinking, behavior and personality. These symptoms get worse over time.
Huntington's disease - Wikipedia
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] . The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9][1] A general lack of coordination and an unsteady gait often follow. [2] .
HTT gene - MedlinePlus
The HTT gene provides instructions for making a protein called huntingtin. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain and is essential for normal development before birth.
HTT huntingtin [Homo sapiens (human)] - Gene - NCBI
2024年11月14日 · Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product.
Huntington Disease - StatPearls - NCBI Bookshelf
2023年8月23日 · 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.
Huntington disease - Nature Reviews Disease Primers
2015年4月23日 · Huntington disease is devastating to patients and their families — with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course, and a combination of...
3064 - Gene ResultHTT huntingtin [ (human)] - National Center for ...
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product.
Huntington disease: new insights into molecular pathogenesis and ...
2020年8月14日 · 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...