Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.

ABSTRACT:

Objective

Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on single case reports, neuropathological data in OPTN mutation carriers have revealed transactive response DNA-binding protein 43 kDa (TDP-43) pathology, in addition to accumulations of tau and alpha-synuclein. Herein, we present two siblings from a consanguineous family with a homozygous frameshift mutation in the OPTN gene and different clinical presentations.

Methods

Both affected siblings underwent (i) clinical, (ii) neurophysiological, (iii) neuropsychological, (iv) radiological, and (v) laboratory examinations, and (vi) whole-exome seq

SUBMITTER: Parvizi T 

PROVIDER: S-EPMC11187959 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature