Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

ABSTRACT:

Objective

To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course.

Methods

Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed. Functional consequences of neuron-specific downregulation of the gene were studied in Drosophila.

Results

Both patients present an atypical form of axonal peripheral neuropathy, characterized by acute or subacute onset and episodes of recurrent mononeuropathy. We identified compound het

SUBMITTER: Atkinson D 

PROVIDER: S-EPMC5304460 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature