First Juvenile Huntington’s Disease brain donated to NIMHANS for research
The family of a patient with Juvenile Huntington’s Disease (JHD), a rare inherited disease that causes progressive neuro-degeneration, donated his brain to NIMHANS for research on Monday.
“This is the first example of JHD brain donation at the institute,” the doctors said.
Last year, NIMHANS Brain Bank received its first brain donation from an adult patient with Huntington’s Disease (HD). Researchers at the institute have already started working on this sample.
Deceased Jagadeesha hailed from Kalagotla village in Yemmiganur mandal of Kurnool district of Andhra Pradesh. In 2014, when she was 12 years old, she began showing early signs of JHD, including learning disabilities and behavioral changes. It was first evaluated at NIMHANS in 2017.
NIMHANS Brain Bank Coordinator and professor and head of the Department of Neuropathology Anita Mahadevan said that a team from the institute went to the village and the brain (within 24 hours of death) was collected at a government facility here.
act of generosity
“This is a great generosity of the family. This JHD brain is the first in the country and a precious gift of hope for researchers studying neurodegenerative disorders. It will be dissected and frozen at -86°C for research,” he said.
Dr. Mahadevan noted that doctors’ awareness and efforts have enabled more families of patients with neurodegenerative disorders to come forward for brain donation. “The overall number of brain donations has increased this year and we now have more than 450 samples in our bank,” he said.
Meera Purshottam, Chief Scientific Officer, NIMHANS Molecular Genetics Laboratory, said: “It is important to study the structural and molecular changes in the brain of a JHD patient and how they differ from a normal brain of the same age.”
Juvenile HD differs from adult HD in both biology and clinical presentation. Dr. “Typically, individuals with JHD have over 60 CAG (cytosine-adenine-guanine) repeats in the gene. The higher the number of repeats, the earlier the disease begins and the faster the disease progression,” Purshottam explained.
Nikhil Ratna, co-founder and vice president of Huntington’s Disease Society of India (HDSI) and HD researcher, said he saw Jagadeesha as a trainee resident at NIMHANS in 2017 and has been following his case since then.
“Over the years his condition worsened, resulting in stiffness, limited movement, difficulties with eye movements, speech and swallowing. In recent years he became bedridden and suffered from severe epilepsy and repeated falls, which led to head injuries and his untimely death on Sunday,” he said.
Situation of families
Huntington’s Disease is an adult-onset genetic neurodegenerative disease that often presents with involuntary movements known as chorea. In rare cases, such as Jagadeesha, the disease begins before the age of 20 and is classified as Juvenile HD. It has distinct symptoms, progresses more rapidly, and follows a different disease mechanism.
“Jagadeesha inherited the mutation from her father, who showed symptoms in his 30s. Her elder sister was also diagnosed at 18. The length of the CAG repeat expansion determines the age of onset; the longer the expansion, the earlier and more severe the disease. JHD accounts for about 6% of all HD cases and is not fully understood,” Ratna explained.
Donation by Dr. Mahadevan and Dr. HDSI president Venkateswara Rao Kaushik, who coordinated along with Ratna, said the society has urged the government to recognize HD as a rare disease.
Mr. Kaushik, whose wife is bedridden due to HD, said, “Carers face a huge burden. Patients need multidisciplinary and palliative care in advanced stages. Special centers should be established where specialists are gathered under one roof, similar to Western countries.”
It was published – 04 November 2025 08:18 IST
