A Glimpse of Molecular Biomarkers in Huntington's Disease

Huntington's disease (HD) is a devastating neurodegenerative disorder that is caused by an abnormal expansion of CAG repeats in the Huntingtin ( ) gene. Although the main symptomatology is explained by alterations at the level of the central nervous system, predominantly affecting the basal gan...

Full description

Saved in:
Bibliographic Details
Published in:International journal of molecular sciences 2022-05, Vol.23 (10), p.5411
Main Authors: Martí-Martínez, Silvia, Valor, Luis M
Format: Article
Language:English
Subjects:
Age
Atrophy
Basal ganglia
Biomarkers
Body fluids
Cell division
Central nervous system
Cerebrospinal fluid
CSF
Huntingtin
Huntington's disease
Huntingtons disease
NF-L
Patients
Peripheral blood
Physiology
plasma
Polyglutamine
Proteins
Review
Saliva
Trinucleotide repeats
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Huntington's disease (HD) is a devastating neurodegenerative disorder that is caused by an abnormal expansion of CAG repeats in the Huntingtin ( ) gene. Although the main symptomatology is explained by alterations at the level of the central nervous system, predominantly affecting the basal ganglia, a peripheral component of the disease is being increasingly acknowledged. Therefore, the manifestation of the disease is complex and variable among CAG expansion carriers, introducing uncertainty in the appearance of specific signs, age of onset and severity of disease. The monogenic nature of the disorder allows a precise diagnosis, but the use of biomarkers with prognostic value is still needed to achieve clinical management of the patients in an individual manner. In addition, we need tools to evaluate the patient's response to potential therapeutic approaches. In this review, we provide a succinct summary of the most interesting molecular biomarkers that have been assessed in patients, mostly obtained from body fluids such as cerebrospinal fluid, peripheral blood and saliva.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms23105411