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

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Abstract

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.

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Acknowledgements

The author sincerely acknowledges University of Engineering and management.

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  1. Department of Biotechnology, University of Engineering and Management, Kolkata, University Area, Plot, Street Number 03, Action Area III, B/5, Newtown, Kolkata, West Bengal, 700156, India

    Pratik Talukder, Annapurna Jana, Shrirupa Dhar & Saikat Ghosh

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  1. Pratik Talukder
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  2. Annapurna Jana
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  3. Shrirupa Dhar
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A. Jana, S. Dhar, S. Ghosh and Dr. P. Talukder contributed equally; Dr. P. Talukder prepared the manuscript. All the authors contributed equally.

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Correspondence to Pratik Talukder.

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Talukder, P., Jana, A., Dhar, S. et al. Huntington’s Chorea—a Rare Neurodegenerative Autosomal Dominant Disease: Insight into Molecular Genetics, Prognosis and Diagnosis. Appl Biochem Biotechnol 193, 2634–2648 (2021). https://doi.org/10.1007/s12010-021-03523-x

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