Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant.

ABSTRACT:

Background and objectives

The aim of this study is to provide a comprehensive characterization of a large Estonian family spanning five generations with seventeen individuals affected by spastic paraplegia associated with a novel variant in the receptor expression-enhancing protein-1 (REEP1) gene.

Methods

Comprehensive clinical evaluation, neuroimaging, and neurophysiological studies were performed on six patients who provided oral and written consent. Whole-exome sequencing was performed on the index case. Targeted carrier testing was done in all other available affected and at-risk relatives.

Results

Four individuals presented with pure spastic paraplegia, with onset from early childhood to adult age. None had bladder or bowel dysfunction. Two subjectively as

SUBMITTER: Hjartarson HT 

PROVIDER: S-EPMC10957410 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature