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Long-Term Health Outcomes of Huntington Disease and the Impact of Future Disease-Modifying Treatments: A Decision-Modeling Analysis. [PDF]
Neurol Clin PractGuzauskas GF +10 more
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Nature Reviews Disease Primers, 2015 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 motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the ...
Gillian P Bates +2 more
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BMJ, 2010
Huntington's disease (HD) is one of the most frequently found neurodegenerative disorders. Its main clinical manifestations are chorea, cognitive impairment and psychiatric disorders. It is an autosomal-dominant disorder with almost complete penetrance.
Emmanuel, Roze +3 more
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Huntington's disease (HD) is one of the most frequently found neurodegenerative disorders. Its main clinical manifestations are chorea, cognitive impairment and psychiatric disorders. It is an autosomal-dominant disorder with almost complete penetrance.
Emmanuel, Roze +3 more
+9 more sources
Prenatal Diagnosis, 1996
Huntington's disease (HD) is a late-onset degenerative disorder of the central nervous system, caused by a dominantly inherited mutation in a gene on chromosome 4p. The identification of the trinucleotide repeat mutation responsible for this disorder has been an important step towards understanding the molecular pathology of HD, but in the meantime has
Shutish C. Patel +2 more
openaire +3 more sources
Huntington's disease (HD) is a late-onset degenerative disorder of the central nervous system, caused by a dominantly inherited mutation in a gene on chromosome 4p. The identification of the trinucleotide repeat mutation responsible for this disorder has been an important step towards understanding the molecular pathology of HD, but in the meantime has
Shutish C. Patel +2 more
openaire +3 more sources
Seminars in Cell Biology, 1995
Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
J F, Gusella, M E, MacDonald
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Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
J F, Gusella, M E, MacDonald
openaire +2 more sources
NeuroMolecular Medicine, 2003
Huntington's disease (HD) research is aimed at understanding the root cause of the disorder, for the thrill of uncovering new biology, and for the serious purpose of finding effective therapeutic agents. Molecular genetics has revealed the disease trigger, an inherited unstable CAG expansion in a novel 4p16.3 gene (HD), that lengthens a polyglutamine ...
Marcy E, MacDonald +3 more
openaire +4 more sources
Huntington's disease (HD) research is aimed at understanding the root cause of the disorder, for the thrill of uncovering new biology, and for the serious purpose of finding effective therapeutic agents. Molecular genetics has revealed the disease trigger, an inherited unstable CAG expansion in a novel 4p16.3 gene (HD), that lengthens a polyglutamine ...
Marcy E, MacDonald +3 more
openaire +4 more sources
2014
Changes in the level and activity of brain-derived neurotrophic factor (BDNF) have been described in a number of neurodegenerative disorders since early 1990s. However, only in Huntington disease (HD) gain- and loss-of-function experiments have mechanistically linked these abnormalities with the genetic defect.In this chapter we will describe how ...
C. Zuccato, E. Cattaneo
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Changes in the level and activity of brain-derived neurotrophic factor (BDNF) have been described in a number of neurodegenerative disorders since early 1990s. However, only in Huntington disease (HD) gain- and loss-of-function experiments have mechanistically linked these abnormalities with the genetic defect.In this chapter we will describe how ...
C. Zuccato, E. Cattaneo
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Seminars in Neurology, 2007
Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between ...
openaire +3 more sources
Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between ...
openaire +3 more sources