Huntington's Chorea-a Rare Neurodegenerative Autosomal Dominant Disease: Insight into Molecular Genetics, Prognosis and Diagnosis

Huntington's disease is a neurodegenerative autosomal disease results due to expansion of polymorphic CAG repeats in the huntingtin gene. Phosphorylation of the translation initiation factor 4E-BP results in the alteration of the translation control leading to unwanted protein synthesis and neuronal function. Consequences of mutant huntington (mhtt) gene transcription are not well known. Variability of age of onset is an important factor of Huntington's disease separating adult and juvenile types. The factors which are taken into account are-genetic modifiers, maternal protection i.e excessive paternal transmission, superior ageing genes and environmental threshold. A major focus has been given to the molecular pathogenesis which includes-motor disturbance, cognitive disturbance and neuropsychiatric disturbance. The diagnosis part has also been taken care of. This includes genetic testing and both primary and secondary symptoms. The present review also focuses on the genetics and pathology of Huntington's disease.

Automated summary

Huntington's disease is a neurodegenerative disorder caused by expansion of CAG repeats in the huntingtin gene. Phosphorylation of translation initiation factor 4E-BP can lead to abnormal protein synthesis and neuronal function. The variability in age of onset is influenced by genetic modifiers, maternal protection, superior aging genes, and environmental factors. Major focus is on the pathogenesis involving motor, cognitive, and neuropsychiatric disturbances, with diagnosis including genetic testing and symptom identification.