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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]
The main subjects of the film are Jeff Carroll, a US Army Veteran and Huntington's disease researcher from Washington; Dr. John Roder, a renowned cancer specialist at the Samuel Lunenfeld Research Institute at Mount Sinai Hospital, Toronto; Theresa Monahan of Ohio, who was among the first Americans to undergo predictive testing for Huntington's disease in 1988, and Dr. Michael R. Hayden, who ...
For example, the genetic disorder Huntington's disease is diagnosed when symptoms appear at around 50, and the person dies at around 65. The typical patient, therefore, lives about 15 years after diagnosis. A genetic test at birth makes it possible to diagnose this disorder earlier.
The film begins at a dinner party. Filmmaker and actress Marianna Palka, 33 years old, is joined by friends in anticipation of the genetic testing results she will receive the next day, revealing whether or not she has inherited the presently untreatable neurodegenerative illness, Huntington's disease, from her father, who has the illness.
Once the number of copies reaches over 100, the disease will manifest earlier in life (although the individual will still reach adulthood before the symptoms are evident) and the symptoms will be more severe – including electrical myotonia. As the number progresses upwards past 400, the symptoms show themselves during childhood or infancy.
The Huntington's disease Outreach Project for Education at Stanford (HOPES) is a student-run project at Stanford University dedicated to making scientific information about Huntington's disease (HD) more readily accessible to patients and the public.
The Huntington's Disease Association (HDA) is a charity that supports people in England and Wales affected by the genetic neurodegenerative brain condition Huntington's disease (HD). The HDA was founded in 1986 and is based in Liverpool . [ 1 ]
15194 Ensembl ENSG00000197386 ENSMUSG00000029104 UniProt P42858 P42859 RefSeq (mRNA) NM_002111 NM_001388492 NM_010414 RefSeq (protein) NP_002102 NP_034544 Location (UCSC) Chr 4: 3.04 – 3.24 Mb Chr 5: 34.92 – 35.07 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15 ...