Case Series of Prion Disease Patients from Northern India: Insights from Clinical, EEG, and Imaging Data

Abstract

Being a rare disorder, Creutzfeldt–Jakob disease (CJD) reports are limited to a few Indian case series. To date, only three kindreds of Gerstmann–Straussler–Scheinker (GSS) syndrome have been reported from India. We report the clinical, electroencephalographic, and radiological profile of 7 CJD patients observed over a period of 5 years, from January 2018 to February 2023, at a tertiary care centre in Northern India. Of these, 6 (85.7%) were diagnosed with sporadic CJD (sCJD), and one case was genetically diagnosed with GSS syndrome. In the six sCJD patients, the median age of onset and disease duration were 59 (44–66) years and 3 (1–11) months, respectively. Three sCJD patients were males, and three were female. Abnormal gait (100%), myoclonus (100%), impaired cognition (100%), and parkinsonism (100%) were the most common neurological features. Brain magnetic resonance imaging (MRI) revealed diffusion restriction with low Apparent Diffusion Coefficient involving the bilateral striatum in all sCJD patients, with the characteristic electroencephalogram (EEG) finding of generalized periodic sharp wave complexes at 1–2 Hz seen in 4 (66.7%) patients. The GSS patient was a 32-year-old female with predominantly ataxia of 10 years duration. Her brain MRI revealed cerebral and cerebellar atrophy, and the EEG showed focal and generalized epileptiform discharges. While sCJD is the most prevalent prion disorder, GSS should be considered in hereditary ataxia patients negative for common genetic conditions.