Triple A syndrome presenting as complicated hereditary spastic paraplegia.

ABSTRACT:

Background

Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment.

Methods

Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis.

Results

We report three patients from two families who presented with lower limb spasticity, muscular atrophy, and other neurological symptoms, who were clinically diagnosed with complicated HSP. Whole exome sequencing revealed bi-allelic AAAS nonsense mutations; one individual was homozygous for the p.(Arg478*) mutation, and two siblings were homozygous for the p.(Arg286*) mutation, leading to the diagnosis of triple A syndrome. This rare syndrom

SUBMITTER: Leveille E 

PROVIDER: S-EPMC6305671 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature