The Effect of Huntington's Disease on the Basal Nuclei: A Review.

Content Provider	Europe PMC
Author	Matz, Olivia C Spocter, Muhammad
Editor	Muacevic, Alexander Adler, John R
Copyright Year	2022
Abstract	Huntington's disease is an autosomal dominant trinucleotide repeat disorder that causes the progressive degeneration of the basal nuclei. This degeneration leads to clinical symptoms affecting voluntary movement, cognitive impairment, and psychiatric disorders. The patient affected by this disease demonstrates anticipation, meaning that even though there is normal embryological development, the signs and symptoms appear at an earlier age as the gene is continually passed throughout subsequent generations. The degeneration occurs due to the accumulation of the protein Huntingtin that destroys the medium spiny neurons located in the caudate and putamen, collectively termed the striatum. Four pathways converge onto the striatum known as the "input" center. These consist of the motor loop, oculomotor loop, association loop, and limbic loop. In each of these loops, the striatum maintains an inhibitory gamma-aminobutyric acid (GABA)-ergic function. The imbalance of the inhibitory versus excitatory input directly relates to the symptoms seen in Huntington's disease such as the inability to control voluntary movements termed chorea, the inability to control voluntary saccadic ocular movements, the cognitive inability to plan and determine the direction of movement, and the inability to control the emotional and motivational aspects of the movement. There is currently no cure for Huntington's disease but there is a symptomatic treatment for the chorea and psychiatric conditions. Further research is being done to determine the pathophysiology behind the Hungtintin protein to allow for a targeted treatment regimen while also looking into reliable biomarkers for the progression of Huntington's disease.
Journal	Cureus
Volume Number	14
DOI	10.7759/cureus.24473
PubMed Central reference number	PMC9132741
Issue Number	4
PubMed reference number	35651462
e-ISSN	21688184
Language	English
Publisher	Cureus
Publisher Date	2022-04-25
Publisher Place	Palo Alto (CA)
Access Restriction	Open
Subject Keyword	basal nuclei degeneration anticipation gaba intrinsic loops autosomal dominant trinucleotide striatum chorea basal ganglia huntington's disease
Content Type	Text
Resource Type	Article
Subject	Medicine