Review of Huntington’s Disease: From Basics to Advances in Diagnosis and Treatment
Natalia González Rojas, Martín Emiliano Cesarini, Guillermo Peker, Gustavo Andrés Da Prat, José Luis Etcheverry, Emilia Gatto
Abstract
We conducted the present review facing the enormous growth of scientific knowledge in Huntington’s disease (HD) and the need for a practical update for general neurologists. HD is a devastating neurodegenerative disease of autosomal dominant inheritance and full penetrance, caused by an expansion of the cytosine-adenine-guanine (CAG) trinucleotide in the huntingtin gene located on chromosome 4. The clinical phenotype varies according to the age of presentation, but it is mainly characterized by cognitive, motor and psychiatric disturbances. Many mechanisms were raised trying to explain the path to neurodegeneration, including disruption of proteostasis, transcription and mitochondrial dysfunction as well as direct toxicity. There has been tremendous progress regarding disease pathogenesis, clinical management and promising new therapeutic avenues including disease-modifying treatments that pose a challenge and a need for a practical approach to be taken by movement disorders specialists and general neurologists. J Neurol Res. 2022;12(3):93-113 doi: https://doi.org/10.14740/jnr721