Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

2008

Mutations in the REEP1 Gene and Hereditary Spastic Paraplegia

Sample size: 162 publication Evidence: moderate

Author Information

Author(s): Katharina J Schlang, Larissa Arning, Joerg T Epplen, Susanne Stemmler

Primary Institution: Department of Human Genetics, Ruhr-University, Bochum, Germany

The study aims to determine the prevalence of REEP1 mutations in patients with hereditary spastic paraplegia.

Pathogenic mutations in the REEP1 gene were found in 4.3% of cases with autosomal dominant hereditary spastic paraplegia.

Ten mutations were identified in the REEP1 gene, including eight novel mutations.
Both missense mutations and the splice site mutation were not found in 170 control subjects.
The study confirms previously observed mutation frequencies of 3% to 6.5%.

The study looked at people with a specific type of leg weakness and found some had changes in a gene that could explain their condition.

Patients were screened for mutations using DHPLC and direct sequencing.

The mutation screening technique may not be 100% sensitive, potentially missing some mutations.

Cohort consisted of 162 unrelated Caucasian index patients with a positive family history of hereditary spastic paraplegia.

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