Brief Summary: This study is an observational prospective genetic study It aims to obtain DNA for research and testing from patients with PSP CBS MSA and related neurological conditions and their families
Up to 1000 adults who have been clinically diagnosed with PSP CBS MSA or related neurological conditions will be enrolled The study intervention involves sequencing of participant blood samples using non-CLIA-approved whole genome sequencing at the National Institutes of Health Pathogenic variants that are deemed possibly related to these conditions will be confirmed using CLIA-approved testing The study involves minimal risk to participants
Detailed Description: Genetic research is important for basic translational and clinical researchers and are particularly important for rare disease investigations Understanding a patients genetic background may also facilitate participant recruitment for targeted genetic therapeutic trials and has the potential to empower participants with PSP CBS MSA or related neurological diseases and clinicians to make more informed decisions about their clinical care plan Furthermore genetic research augments the clinical counseling process by offering participants and their families a clearer understanding of disease risk in relatives Overall this study may help to refine current diagnostic criteria for PSP CBS MSA and related neurological conditions inform genetic counseling fuel future research studies and provide insights into potential therapeutic paradigms