Knowra Huntington's disease Huntington's disease Huntington's disease is an inherited neurodegenerative disorder caused by a CAG-repeat expansion in the HTT gene. It progressively affects movement, cognition, and mental health.
HTT gene : The gene encoding huntingtin, a protein involved in cellular processes including intracellular transport and neuronal function. Its expanded CAG sequence causes Huntington's disease.
Autosomal dominant inheritance : An inheritance pattern in which one altered copy of a gene can cause a condition. One expanded HTT copy is sufficient to cause Huntington's disease.
Predictive genetic testing : Genetic testing performed before symptoms develop to assess whether a person carries a disease-associated variant. It can identify an HTT expansion in people with a family history who have no symptoms.
Huntington-like disorders : A set of rare inherited or acquired conditions that can produce symptoms resembling Huntington's disease. Similar symptoms can arise without the disease-causing HTT expansion.
CAG repeat : A sequence of DNA in which the bases cytosine, adenine, and guanine repeat consecutively. Expansion of this repeat in HTT produces an abnormally long huntingtin protein.
Penetrance : The proportion of people with a particular genetic variant who develop its associated trait or disorder. HTT repeat length helps determine whether and when symptoms appear.
Genetic counseling : A process that helps people understand genetic risks, testing, and the implications of results. Counseling supports decisions about testing and family planning.
Parkinson's disease : A progressive neurodegenerative disorder commonly marked by slowness, rigidity, and resting tremor. Its typical movement pattern differs from Huntington's chorea and behavioral changes.
Huntingtin : A protein encoded by HTT that is expressed throughout the body and has important roles in cells, especially neurons. The expanded form of huntingtin disrupts neuronal processes in the disease.
Chorea : A movement disorder characterized by involuntary, irregular, flowing movements. Chorea is a recognizable motor symptom, though not the only movement change.
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