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The Lion's Mouth Opens is a 2014 short documentary film. It follows actress and filmmaker Marianna Palka as she pursues testing to learn whether she inherited the genetic mutation that causes Huntington's disease, an incurable neurodegenerative disease. [1][2] Directed by documentarian Lucy Walker, the film premiered in a 14-minute version at ...
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] It is also a basal ganglia disease ...
Huntingtin. 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. [6]
Hyperkinesia refers to an increase in muscular activity that can result in excessive abnormal movements, excessive normal movements, or a combination of both. [1] Hyperkinesia is a state of excessive restlessness which is featured in a large variety of disorders that affect the ability to control motor movement, such as Huntington's disease.
These often are translated into polyglutamine-containing proteins that form inclusions and are toxic to neuronal cells. Examples of the disorders caused by this mechanism include Huntington's disease and Huntington disease-like 2, spinal-bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia 1–3, 6–8, and 17.
Do You Really Want to Know? is a 2012 documentary film directed by John Zaritsky and produced by Kevin Eastwood.Using interviews and dramatic recreations, the film recounts the stories of three families who carry the gene for Huntington's disease, a neurodegenerative illness which is the result of a genetic abnormality, whose symptoms typically appear in mid-life. [1]
In Season 3 (2002), Episode 6 ("Old Wounds") of the TV show The District, Nancy is diagnosed with Huntington's disease after falling from a fire escape and having a concussion while chasing a criminal. In Season 2 (2009), Episode 1 ("Gilted Lily") of the TV show In Plain Sight, Lily is laid out serenely on the bed.
Slipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences. [1] It is a form of mutation that leads to either a trinucleotide or dinucleotide expansion, or sometimes contraction, during DNA replication. [2] A slippage event normally occurs when a sequence of repetitive nucleotides (tandem repeats) are ...