Dataset Information

A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?

ABSTRACT:

Background and aim

Polymerase γ (POLG) is a protein that plays a pivotal role in the replication of the mitochondrial genome. POLG-related disorders constitute a sequence of overlying phenotypes that can present from early infancy to late adulthood. Parkinsonism is the most common movement disorder associated with POLG mutation. We also summarize all reported cases of POLG-related Parkinsonism, along with a literature review.

Case description

We present the case of an 80-year-old male presented with complaints of episodic confusion, tremors, and restlessness. He has been on risperidone for psychosis. A normal DaT scan ruled out Parkinson's disease, and molecular analysis for POLG was positive (E1143G). He was diagnosed with drug-induced Parkinsonism and tardive akathisia with an incidental POLG mutation.

Conclusions

A literature search revealed 55 cases of "POLG-related Parkinsonism" that met our criteria. These mutations can clinically affect multiple organ systems. Parkinsonism is the most common movement disorder reported in association with POLG mutations. We conducted a molecular analysis in our patient due to his Parkinsonism and recurrent episodes of encephalopathy. E1143G mutation found in our case was coincidental and reported a non-pathogenic or benign variant in literature.

Relevance for patients

E1143G is a non-pathogenic variant and multiple studies have shown that its co-occurrence with other POLG mutations can aggravate disease occurrence and severity. Literature findings and the experience from our own case indicate that the pathogenicity of E1143G is debatable, and future studies involving this particular variant may help understand its pathological consequences.

SUBMITTER: Idiculla PS

PROVIDER: S-EPMC8221753 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:BackgroundAbdominal aortic aneurysms (AAAs) represent a complex multifactorial hemodynamic, thrombotic, and inflammatory process that can ultimately result in aortic rupture and death. Despite improved screening and surgical management of AAAs, the mortality rates have remained high after rupture, and little progress has occurred in the development of nonoperative treatments. Intraluminal thrombus (ILT) is present in most AAAs and might be involved in AAA pathogenesis. The present review examined the latest clinical and experimental evidence for possible involvement of the ILT in AAA growth and rupture.MethodsA literature review was performed after a search of the PubMed database from 2012 to June 2020 using the terms "abdominal aortic aneurysm" and "intraluminal thrombus."ResultsThe structure, composition, and hemodynamics of ILT formation and propagation were reviewed in relation to the hemostatic and proteolytic factors favoring ILT deposition. The potential effects of the ILT on AAA wall degeneration and rupture, including a review of the current controversies regarding the position, thickness, and composition of ILT, are presented. Although initially potentially protective against increased wall stress, increasing evidence has shown that an increased volume and greater age of the ILT have direct detrimental effects on aortic wall integrity, which might predispose to an increased rupture risk.ConclusionsILT does not appear to be an innocent bystander in AAA pathophysiology. However, its exact role remains elusive and controversial. Despite computational evidence of a possible protective role of the ILT in reducing wall stress, increasing evidence has shown that the ILT promotes AAA wall degeneration in humans and in animal models. Further research, with large animal models and with more chronic ILT is crucial for a better understanding of the role of the ILT in AAAs and for the potential development of targeted therapies to slow or halt AAA progression.