A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

ABSTRACT:

Objective

To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments.

Methods

Clinical and electrophysiologic data were evaluated, and a sural nerve biopsy from one affected child was examined by immunohistochemistry and electron microscopy. The ability of the mutant protein to form filaments was characterized in an established cell culture system.

Results

Four of five siblings developed of a severe, progressive neuropathy beginning in early childhood. Serial nerve conduction studies showed progressively reduced amplitudes with age and pronounced slowing at all ages. Visual-evoked responses were slowed in three children, indicating that central nervous system axons were subclinically involved. All fo

SUBMITTER: Yum SW 

PROVIDER: S-EPMC4439312 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature