نتایج جستجو برای: huntington disease
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BACKGROUND Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS We reviewed the literature concerning the molecular diagnosis of HD. RESULTS The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagno...
References: [1] E.J. Slow, et al, “Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease.,” Hum Mol Genet, vol. 12, 2003, p. 1555―67. [2] J.M. Van Raamsdonk, et al, “Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease.,” Hum Mol Genet, vol. 14, 2005, p. 3823―35. [3] J.P. Lerch, et al, “Automated deformatio...
Huntington’s disease is characterized after onset by uncoordinated jerky body movements along with a decline in selected mental capabilities including considerable variation between individuals with the condition. The global prevalence of the condition is approximately one person in 14,000 with considerable variations between geographical locations. Onset of Huntington’s disease is more common ...
BACKGROUND AND PURPOSE In patients with premanifest (nonsymptomatic) and advanced Huntington disease, changes in brain iron levels in the basal ganglia have been previously reported, especially in the striatum. Quantitative susceptibility mapping by using MR phase imaging allows in vivo measurements of tissue magnetic susceptibility, which has been shown to correlate well with iron levels in br...
We provide an update on the state of translational research in movement disorders, using examples of Huntington disease, Parkinson disease, and dystonia. While substantial progress in our understanding of these disorders has been achieved, development of neuroprotective treatments remains an unrealized goal. Here we highlight some of the emerging research areas that show the most promise for tr...
huntington's disease (hd) is thought to be due to genetically-programmed degeneration of neurons in certain areas of the brain. this degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbances. it is along time since the disease started tormenting human beings, and to date, conventional medications have failed to slow down the progression of hd. althou...
The BACHD rat is a recently developed transgenic animal model of Huntington disease, a progressive neurodegenerative disorder characterized by extensive loss of striatal neurons. Cognitive impairments are common among patients, and characterization of similar deficits in animal models of the disease is therefore of interest. The present study assessed the BACHD rats' performance in the delayed ...
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