The Clinical, Radiological and Genetic Spectrum of PLA2G6 -Associated Neurodegeneration: An Experience From a Tertiary Center.

Vikram Venkappayya Holla Samim Mm Riyanka Kumari Debjyoti Dhar Prashant Phulpagar Neeharika Sriram Shweta Prasad Jitender Saini Nitish Kamble Ravi Yadav Babylakshmi Muthusamy Pramod Kumar Pal

Published in: Tremor and other hyperkinetic movements (New York, N.Y.) (2024)

The study introduces 26 new patients of PLAN and 12 patients associated with the c.2222G>A variant, potentially forming the most extensive single center series to date. It also expands the phenotypic, neuroimaging, and genotypic spectrum of PLAN.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
gene expression
dna methylation
copy number