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Article

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

Journal of the peripheral nervous system : JPNS - 1 Dec 2014

Hashiguchi Akihiro, Higuchi Yujiro, Nomura Miwa, Nakamura Tomonori, Arata Hitoshi, Yuan Junhui, Yoshimura Akiko, Okamoto Yuji, Matsuura Eiji, Takashima Hiroshi

Abstract excerpt

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 four members of an affected Japanese family. Clinical features included weakness of distal lower limb mu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25583183
DOI: 10.1111/jns.12102

Genes

NEFL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25583183-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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