The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.

ABSTRACT:

Objective

The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.

Methods

Clinical features of 6 patients with SMA-PME were assessed by retrospective chart review, and a literature review of 24 previously published cases was performed. Leukocyte enzyme activity of acid ceramidase was assessed with a fluorescence-based assay. Skin fibroblast ceramide content and was assessed by high performance liquid chromatography, electrospray ionization tandem mass spectroscopy. Enzyme replacement was assessed using recombinant human acid ceramidase (rhAC) in vitro.

Results

The six n

SUBMITTER: Lee MM 

PROVIDER: S-EPMC9735369 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature