huntingtons disease is caused by a dominantly transmitted cag repeat expansion mutation that is believed to confer a toxic gain of function on the mutant protein. huntingtons disease patients with two mutant alleles are very rare. in other poly (cag) diseases such as the dominant ataxias, inheritance of two mutant alleles causes a phenotype more severe than in heterozygotes. in our evaluation, ...

neurodegenerative disorders such as huntingtons disease, alzheimers disease, parkinsons disease, amyotrophic lateral sclerosis, spinal muscular atrophy, friedreichs ataxia, and others are multi-factorial illnesses in which many pathways (still poorly understood) act serially and in parallel to give a determined pathologic phenotype. thus, presently there are no effective cures for these disease...

Because of continuous changing of anatomy, function and metabolism of the human brain, agerelated change is a major risk factor in most prevalent neurodegenerative diseases, including Parkinsons and Huntingtons disease. Therefore, knowing patterns of age-related atrophy of brain tissue can identify causes and possible role of diseases in decreasing brain function with age. The aim of this study...

he development of therapeutic interventions for genetic disorders and diseases that affect the central nervous system (CNS) has proven challenging. There has been significant progress in the development of gene therapy strategies in murine models of human disease, but gene therapy outcomes in these models do not always translate to the human setting. Therefore, large animal models are crucial t...

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

Huntington’s disease (HD) is a late-onset neurodegenerative disorder that is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (htt). The normal function of htt, and the molecular mechanisms that contribute to the disease pathogenesis, are in the process of being elucidated. In this review...