The Clinical and Genetic Features of Huntington Disease

Abstract

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

“…Spermatogenesis is also believed to be involved in the molecular mechanism of CAG repeat instability in HD, given that expansion is more likely to occur during paternal transmission. 33 Other factors proposed to affect the stability of HTT alleles include environmental factors and genetic cis-acting factors within certain haplotypes. 5,16,[34][35][36] Determining the genetic background of the HTT gene may thus lead to the identification of genetic factors affecting stability and disease pathogenesis.…”

Risk and Resilience: Living with a Neurological Condition with a Focus on Health Care Communications

“…The early symptoms are often first noticed by family, friends and co-workers and may include disinhibited behavior, fidgetiness, irritability, anhedonia, obsessive behaviors, altered executive function, and slowed processing speed which manifests in decreased productivity (Sturrock & Leavitt, 2010). As the disease progresses, motor disturbances such as chorea, speech and swallowing difficulties, rigidity, bradykinesia and akinesia develop (Roos, 2010).…”

“…As the disease progresses, motor disturbances such as chorea, speech and swallowing difficulties, rigidity, bradykinesia and akinesia develop (Roos, 2010). Eventually, mobility is lost (Sturrock & Leavitt, 2010) and oral motor dysfunction leads to incoherence of speech and inability to eat (Sturrock & Leavitt, 2010).…”

“…Mild cognitive and personality changes can occur in the early stages of the disease (Sturrock & Leavitt, 2010;Walker, 2007). The early symptoms are often first noticed by family, friends and co-workers and may include disinhibited behavior, fidgetiness, irritability, anhedonia, obsessive behaviors, altered executive function, and slowed processing speed which manifests in decreased productivity (Sturrock & Leavitt, 2010).…”

“…Huntington's Disease is an inherited neuropsychiatric disorder that causes brain cells to die, resulting in clinical features which present in a triad of movement disorder, cognitive dysfunction and psychiatric or behavioral disturbance (Sturrock & Leavitt, 2010). Because the disease is inherited as an autosomal dominant trait, each child of an affected individual has a 50% chance of inheriting the gene (Aubeeluck & Wilson, 2008).…”