Publications by authors named "B Balint"
Small Molecule, Big Hope-Can Acetyl-DL-Leucine Reverse Parkinson's Disease?
Mov Disord Clin Pract
December 2024
Article Synopsis
- The study examines the role of TERT, a subunit of telomerase, in high-grade cervical cancer, highlighting its activation linked to hypomethylation as a potential biomarker for disease progression.
- Researchers analyzed 529 CpG sites in the TERT promoter region and related areas, discovering specific sites whose methylation patterns are significantly associated with genetic variants that increase cervical cancer risk.
- Findings suggest that certain genetic variants are linked to lower levels of TERT and CLPTM1L mRNA, indicating a protective effect against cervical cancer, while HPV infection appears to increase levels of these genes.
Ethnic Differences in Atypical Parkinsonism-is South Asian PSP Different?
Mov Disord Clin Pract
November 2024
Article Synopsis
- Progressive supranuclear palsy (PSP) is a debilitating condition that has been under-studied in non-white European populations, prompting an investigation into its characteristics among South Asian patients.
- A study involving 27 South Asian PSP patients (primarily Indians) revealed a mean age of onset at 63.8 years, with a notable 22% experiencing early onset before age 60, and common symptoms including parkinsonism and cognitive dysfunction.
- The findings indicated higher occurrences of atypical symptoms and family history of parkinsonism, suggesting that current MDS diagnostic criteria may not adequately capture the clinical picture in this ethnic group, highlighting the need for further research.
Objective: This article reviews the clinical and antibody spectrum of autoimmune cerebellar ataxia and other autoimmune movement disorders. It highlights characteristic phenotypes and red flags to the diagnosis and how these rare, but treatable, disorders are integrated into a differential diagnosis.
Latest Developments: An increasing number of neuronal antibodies have been identified in patients with cerebellar ataxia, for example, against Kelch-like protein 11 (KLHL11), seizure-related 6 homolog-like 2, septin-3 and septin-5, or tripartite motif containing protein 9 (TRIM9), TRIM46, and TRIM67.