Related Experiment Video
Updated: Jul 3, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Frontotemporal lobar degeneration in a patient carrying a pathogenic PABPN1 expansion
Ehab Y Harahsheh1, Bukola A Olarewaju2, Misha B Asif1
1Mayo Clinic, Scottsdale, USA.
Background:
Expansions in PABPN1 cause oculopharyngeal muscular dystrophy (OPMD), a disorder classically characterized by ptosis, dysphagia, and proximal limb weakness. Cognitive impairment and frontotemporal dysfunction have been reported in selected patients with OPMD, but the relationship between heterozygous PABPN1 expansions and frontotemporal lobar degeneration (FTLD) remains uncertain.
Case Presentation:
We report a 69-year-old man with progressive language-predominant cognitive decline and asymmetric left anterior temporal and frontoparietal atrophy who was found to carry a heterozygous pathogenic PABPN1 expansion [c.30_32dup, p.Ala11dup].
Conclusion:
Because classical neuromuscular manifestations of OPMD were absent, this case is best interpreted as FTLD occurring in a patient carrying a pathogenic PABPN1 expansion rather than as definitive OPMD-related neurodegeneration.
More Related Videos
13:31Novel Atomic Force Microscopy Based Biopanning for Isolation of Morphology Specific Reagents against TDP-43 Variants in Amyotrophic Lateral Sclerosis
Published on: February 12, 2015
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Related Concept Videos
Parkinson Disease ll: Pathophysiology
Huntington Disease l: Introduction
Long-patch Base Excision Repair
Parkinson Disease l: Introduction
Alzheimer Disease ll: Pathophysiology