Review Article
Volume 12 Issue 5 - 2020
Huntington’s Disease: An Up-to-Date
Rafaela Magalhaes Britto Pacheco de Moraes1*, Karina Silveira Massruhá2 and Maria Sheila Guimarães Rocha1
1Department of Neurology, Hospital Santa Marcelina, São Paulo, Brazil
2Faculdade Santa Marcelina Medical Student, São Paulo, Brazil
*Corresponding Author: Rafaela Magalhaes Britto Pacheco de Moraes, Department of Neurology, Hospital Santa Marcelina, São Paulo, Brazil.
Received: March 18, 2020; Published: April 14, 2020




Abstract

Introduction: Huntington’s Disease (HD) is a rare genetic neurodegenerative disorder with an autosomal dominant inheritance.

Epidemiology: Prevalence of HD has increased probably due to wider availability of the genetic test, aging populations and longer patient survival [3]. The worldwide service-based prevalence of HD is 2.71 per 100,000.

Etiology and Genetics: HD is caused by trinucleotide (cytosine-adenine-guanine [CAG]) expansion in the first exon of the huntingtin (HTT) gene. HD is defined when the number of CAG repeats is 40 or more, and the mutation is highly penetrant (repeat length). The onset of HD is between the third and fifth decade of life with an average age of 40 years old.

Pathophysiology: HD is primarily characterized by neuronal loss in the striatum and cortex. There are several other brain areas that have been included in being affected, such as the thalamus, substantia nigra, and cerebellum.

Clinical Features and Diagnosis: Motor impairment, behavioral changes and cognitive loss are the three main components affected in HD. The diagnosis consists of motor symptoms in the presence of a positive genetic test (CAG-expanded allele of the HD gene) or family history of HD.

Differential Diagnosis: For patients negative for CAG repeat expansion in HTT, the differential diagnosis consists of hereditary and acquired causes. Hereditary conditions include autosomal dominant and recessive genetic conditions, X-linked and Maternal inheritance and acquired causes are autoimmune or inflammatory, metabolic, neoplasia and cerebrovascular diseases, drugs, toxic and infections.

Biomarkers and Disease-Modifying Therapy: HD is being considered a potential good model for the development of biomarkers of direct relevance to pathogenesis.

Treatment: There is no currently available treatment that can forestall, cure, or delay disease progression. Therapy is focused on symptom management, supportive care, and the provision of reassurance to maximize function and optimize the quality of life.

Multidisciplinary management and Prognosis: HD addresses all aspects of patient care, not only from a pharmacological perspective. The three main features of HD (motor, behavioral and cognitive) are responsible for leading to disability and death, usually from an intercurrent illness about 15 - 20 years after the age of onset.

Keywords: Huntington’s Disease (HD); Cytosine-Adenine-Guanine (CAG); HD Gene

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Citation: Rafaela Magalhaes Britto Pacheco de Moraes., et al. “Huntington’s Disease: An Up-to-Date”. EC Neurology 12.5 (2020): 12-26.

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