Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.

ABSTRACT:

Background and purpose

The etiology of small fiber neuropathy (SFN) often remains unclear. Since SFN may be the only symptom of late-onset Fabry disease, it may be underdiagnosed in patients with idiopathic polyneuropathy. We aimed to uncover the etiological causes of seemingly idiopathic SFN by applying a focused investigatory procedure, to describe the clinical phenotype of true idiopathic SFN, and to elucidate the possible prevalence of late-onset Fabry disease in these patients.

Methods

Forty-seven adults younger than 60 years with seemingly idiopathic pure or predominantly small fiber sensory neuropathy underwent a standardized focused etiological and clinical investigation. The patients deemed to have true idiopathic SFN underwent genetic analysis of the alpha-galactos

SUBMITTER: Samuelsson K 

PROVIDER: S-EPMC4017013 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature