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A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India.

Neurology India - 1 Jan 2022

Reddy Tallapalli Ashok Vardhan, Nashi Saraswati, Kamath Sneha D, Srijithesh P R, Kulkarni Girish B, Alladi Suvarna

Abstract excerpt

We present a case of a 40-year-old man with rapid decline in cognition followed by Parkinsonism, apraxia and stimulus sensitive myoclonus within 9 months of onset. Magnetic Resonance imaging (MRI) showed periventricular confluent white matter changes with persistent diffusion restriction even after 9 months. Clinical exome sequencing showed colony stimulating factor 1 receptor (CSF1R) gene mutation. The...

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Identifiers

PMID: 35532660
DOI: 10.4103/0028-3886.344666

Genes

CSF1R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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