GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneNEFH
Other namesNFH
Gene nameNeurofilament heavy polypeptide (NF-H)
Gene inheritanceFALS genes found in SALS
Discovery methodCandidate gene
CategoryNEUROFILAMENTS, CYTOSKELETON AND MICROTUBULE DEFECTS
Chromosome22q12.1-q13.1
GRCh37 (hg19)Chr22:29876181-29887279 ( +)
GRCh38 (hg38)Chr22:29480192-29491290(+)
BackgroundNeurofilament accumulation is a hallmark of ALS
ResultSignificant association, tail domain deletions present in  1% ALS patients, not in controls. Findings have replicated in several studies
Mutations11
Patients10
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
174601016010

BIOINFORMATICS

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TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (10)

First_AuthorYearTitlePaper
Al-Chalabi1999Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosisFull_Paper
Daoud2011Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosisFull_Paper
Daoud2011Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral SclerosisFull_Paper
Figlewicz1994Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosisFull_Paper
Julien1995Mice overexpressing the human neurofilament heavy gene as a model of ALSFull_Paper
Meyer1995Sporadic ALS and chromosome 22: evidence for a possible neurofilament gene defectFull_Paper
Rooke1996Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosisFull_Paper
Skvortsova2004Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND)Full_Paper
Tomkins1998Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)Full_Paper
Vechio1996Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosisFull_Paper