Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs

Abstract
To identify novel mutations causing hereditary motor and sensory neuropathy (HMSN) with pyramidal signs, a variant of Charcot–Marie–Tooth disease (CMT), we screened 28 CMT and related genes in 4 members of an affected Japanese family. Clinical features included weakness of distal lower limb muscles, foot deformity and mild sensory loss, then late onset of progressive spasticity. Electrophysiological studies revealed widespread neuropathy. Electron microscopic analysis showed abnormal mitochondria and mitochondrial accumulation in the neurons and Schwann cells. Brain MRI revealed an abnormally thin corpus callosum. In all 4, microarrays detected a novel heterozygous missense mutation c.1166A>G (p.Y389C) in the gene encoding the light‐chain neurofilament protein (NEFL), indicating that NEFL mutations can result in a HMSN with pyramidal signs phenotype.

Source: Journal of the Peripheral Nervous System - June 1, 2014 Category: Neurology Authors: Akihiro Hashiguchi, Yujiro Higuchi, Miwa Nomura, Tomonori Nakamura, Hitoshi Arata, Junhui Yuan, Akiko Yoshimura, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima Tags: Research Report Source Type: research