title: Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).
abstract: The abnormal assembly and accumulation of neurofilaments (NF) in the perikarya and proximal axons of motor neurones is a characteristic of ALS. Deletions in the KSP repeat region of the NF-H gene have previously been reported in seven patients with sporadic ALS. Here we report the identification of a novel 84 bp insertion in the NF-H gene. This leads to an extra four KSP repeat elements in a highly conserved repetitive region of the gene. Although neurofilament mutations are only associated with a very small proportion of ALS cases, this insertion provides further support of a role for neurofilaments in the pathogenesis of ALS.
authors.affiliation: Department of Neurology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Medical School, UK.
authors.forename: J
authors.initials: J
authors.lastname: Tomkins
authors.forename: P
authors.initials: P
authors.lastname: Usher
authors.forename: J Y
authors.initials: JY
authors.lastname: Slade
authors.forename: P G
authors.initials: PG
authors.lastname: Ince
authors.forename: A
authors.initials: A
authors.lastname: Curtis
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.forename: P J
authors.initials: PJ
authors.lastname: Shaw
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D017124:Conserved Sequence; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D016900:Neurofilament Proteins / Q000235:genetics*; D012189:Retrospective Studies; D018911:Trinucleotide Repeats
chemical_list: D016900:Neurofilament Proteins