Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

ABSTRACT:

Background

Hereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients.

Objective

To determine whether the truncated spartin protein is present or absent in cells derived from patients with Troyer syndrome.

Design

Case report.

Setting

Academic research.

Patients

We describe a new family with Troyer syndrome due to the 1110delA mutation.

Main outcome measures

We c

SUBMITTER: Bakowska JC 

PROVIDER: S-EPMC5580255 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature