Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family.

ABSTRACT:

Background

The serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain MRI scans. In this study, we present a case from a Chinese family with disordered metabolism and dystonia owing to SERAC1 variants; the clinical phenotypes of the proband were different from those of MEGDEL syndrome but were similar to those juvenile-onset complicated hereditary spastic paraplegia. Thus, in this study, we aimed to confirm the relationship between SERAC1 variants and complicated hereditary spastic paraplegia.

Methods

MRI and laboratory tests, including gas chromatography/

SUBMITTER: Yan D 

PROVIDER: S-EPMC8873186 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature