Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.

ABSTRACT:

Rationale

Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis is based on clinical presentation and identification of genomic mutations. We describe the clinical presentation and pathogeny of HSP through a report of a case due to a novel mutation of the REEP1 gene (SPG31).

Patient concerns

A 64-year-old woman presented gait disturbances due to spasticity of the lower limbs progressing since her third decade. Previous investigations failed to find any cause.

Interventions

DNA analysis was performed to search for HSP causing mutations.

Diag

SUBMITTER: Richard S 

PROVIDER: S-EPMC5279100 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature