Hereditary spastic paraplegia initially diagnosed as cerebral palsy.

ABSTRACT:

Introduction

Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially diagnosed with CP.

Methods

Fourteen patients with an initial diagnosis of CP were identified from an Alberta registry of HSP patients via chart review. Whole exome sequencing (WES) was performed to identify genetic causes.

Results

From 90 families in the database, individuals in 29 families had a pediatric presentation of spasticity, with 20 presenting under 3 years of age. Individuals from 14 families had received an initial diagnosis of CP and correct diagnosis was made after neurogenetic assessment due to symptom progr

SUBMITTER: Suchowersky O 

PROVIDER: S-EPMC8592889 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature