25 Years Ago, the First Report of a Mutation Associated With Parkinson’s Disease

Deepti Pradhan
6 min readNov 15, 2021
  • A quarter century has passed since the first report of a genetic mutation associated with Parkinson’s disease, in a gene responsible for making the alpha-synuclein protein.
  • There are no blood tests or imaging options to diagnose Parkinson’s disease, and because of the large variability of symptoms, it is often called a “snowflake disease”.
  • Once it is diagnosed, simple changes in one’s routines can make big differences — as we saw recently in the instance of Father Stan Swamy.

On July 5, 2021, Father Stan Swamy, an 84-year-old Jesuit priest, died at the Holy Family Hospital, Mumbai. Per the Bombay high court’s directions, Stan Swamy had been moved from prison — he had been arrested in October 2020 — to the hospital on May 28, 2021. The court later extended his hospital stay due to his deteriorating health. The fact that Swamy was suffering from Parkinson’s disease has since been public knowledge, if it wasn’t already before.

Neurological disorders like Parkinson’s have become a leading cause of disability around the world. Exactly a quarter century has passed since the first report of a genetic mutation associated with Parkinson’s disease: in the gene SNCA, responsible for making the protein alpha-synuclein. Over the years, scientists have associated more than 30 mutations in this gene with Parkinson’s disease.

Mutations in other genes have also been subsequently identified to be associated with Parkinson’s disease. However, most of them have been identified in Caucasian cohorts, and efforts are underway today to collect similar information from other populations. While there are approved chemical treatments, as well as surgical interventions, there is no cure for Parkinson’s disease.

But none of these interventions will be of use unless we as a society increase awareness and eliminate the stigma surrounding Parkinson’s disease, and in fact all diseases.

It is a well-established medical fact that as Parkinson’s disease becomes more severe, the ability to swallow is significantly compromised. If proper interventions are not provided for the patient’s dysphagia (swallowing difficulty), the condition can lead to malnutrition, dehydration and…

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Deepti Pradhan

Employed at Yale University, Deepti is primarily a scientist & patient advocate. She runs Tilde Cafe, a forum to make science accessible (www.tildecafe.org)