Huntington's disease - Symptoms and causes - Mayo Clinic
2024年4月25日 · Huntington's disease follows an autosomal dominant inheritance pattern. This means that a person needs only one copy of the nontypical gene to develop the disorder. With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent.
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's disease - Wikipedia
Huntington's disease is inherited in an autosomal dominant fashion. The probability of each offspring inheriting an affected gene is 50%. Inheritance is independent of sex, and the phenotype does not skip generations.
Who is at risk - Huntington's Disease Society of America
Huntington’s disease is inherited in an autosomal dominant fashion. The probability of each offspring inheriting an affected gene is 50%. Inheritance is independent of gender. Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease.
Huntington's disease - MedlinePlus
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington's disease does not have a parent with the disorder.
Huntington disease | About the Disease | GARD - Genetic and …
People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child. Learn more about inheritance patterns from the National Library of Medicine (NLM).
The Genetics of Huntington's Disease | Penn Huntington's Disease …
The gene responsible for Huntington's Disease is autosomal dominant, therefore, only one copy of the altered gene responsible for CAG repeats is necessary for an individual to have Huntington's Disease. Each person gets one set of genes from their mother and one set of genes from their father.
Huntington Disease - GeneReviews® - NCBI Bookshelf
1998年10月23日 · HD is inherited in an autosomal dominant manner. Offspring of an individual with a pathogenic variant have a 50% chance of inheriting the disease-causing allele.
Huntington disease: a single-gene degenerative disorder of the …
Huntington disease (HD) is an autosomal dominant, neurodegenerative disorder with a primary etiology of corticostriatal pathology. HD is caused by a DNA trinucleotide (triplet) repeat expansion of equal to or greater than 40 CAG repeats within the gene Huntingtin (HTT, OMIM 613004).
Huntington's Disease - National Human Genome Research Institute
2024年12月11日 · Symptoms usually develop during middle age and may include uncontrolled movements, loss of intellectual abilities and various emotional and psychiatric symptoms. Huntington’s disease is inherited as an autosomal dominant trait, meaning that a single mutated copy of the responsible gene (called HTT) is sufficient to cause the disease.