Researchers at Anhui University of Chinese Medicine Target Parkinson's Disease (Primary familial brain calcification presenting with parkinsonism and motor complications caused by a novel SLC20A2 variant: a case report).

Researchers at Anhui University of Chinese Medicine have published a case report on a Chinese female patient with primary familial brain calcification (PFBC) and dopamine-responsive parkinsonism. The patient experienced motor fluctuations and dyskinesia, but effectively recovered after adjusting her medication. Whole-exome sequencing revealed a novel harmful variant in the SLC20A2 gene, expanding the understanding of PFBC and its associated symptoms. The study highlights the clinical efficacy of dopaminergic replacement treatment for PFBC patients. For more information, readers can refer to the article published in Frontiers in Neurology. [Extracted from the article]