Prion disease in India: help and pathways

Where families can turn

CJD Care India was started in 2017. It describes its aims as bringing together people affected by or studying prion disorders, uniting people who can offer reliable help and care, keeping up a conversation with doctors and researchers toward a cure, and sharing information on the diseases and the research.

Its contact number is +91 9867200230 and its email is cjdcareindia@gmail.com. The site does not describe the number as a staffed helpline, so treat it as a general contact.

Its caregiving page, dated 13 February 2021, gives practical suggestions for care at home and points families to CJD Foundation tools and the United States helpline. CJD Care India is India’s member organisation in the CJD International Support Alliance.

What testing is available

This is the hardest part of the picture, and it is better to know it in advance.

Published Indian case series describe diagnosis resting on MRI and EEG, because the spinal fluid tests used elsewhere are not widely available. In one tertiary centre series, no patient had CSF 14-3-3 testing and none had tissue examination. Where a laboratory does offer 14-3-3, it is an indirect marker that also rises in other conditions.

What this means practically is that a diagnosis in India is often a probable diagnosis based on the clinical picture and imaging, rather than one confirmed by a seeded conversion test such as RT-QuIC. That is a limit of availability, not a reflection on the doctors involved.

It is reasonable to ask the treating neurologist whether a spinal fluid sample can be sent to a reference laboratory in another country, and what that would cost and take.

Genetic testing

A commercial laboratory lists PRNP sequencing at around 20,000 rupees with home sample collection. Accreditation and the quality of counselling attached to such services are not verified here, and next generation sequencing does not reliably detect one class of PRNP change, the octapeptide repeat insertions, unless a specific test is requested.

Counselling comes before any decision about testing yourself, and deciding not to test is a valid choice that stays open. Hospital clinical genetics departments at the larger centres are the place to ask. Counselling first explains what counselling involves and tests explained describes what each test does.