title: A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
abstract: SCA28 is caused by mutations in the AFG3L2 gene. This gene encodes a subunit of the mitochondrial metalloprotease AFG3L2 (AFG3-like protein 2). Clinical features of SCA28 include slow to moderate progressive ataxia, dysarthria, and additional symptoms such as nystagmus, slow saccades, and increased deep tendon reflexes. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. The nucleotide change results in the substitution of an evolutionarily highly conserved tyrosine by histidine (p.Y689H) in the M41 peptidase domain of AFG3L2.
authors.affiliation: Institut für Humangenetik, Justus-Liebig Universität Giessen, Schlangenzahl 14, 35392, Giessen, Germany.
authors.forename: Anna Mareike
authors.initials: AM
authors.lastname: Löbbe
authors.forename: Jun-Suk
authors.initials: JS
authors.lastname: Kang
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Hilker
authors.forename: Holger
authors.initials: H
authors.lastname: Hackstein
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
authors.forename: Dagmar
authors.initials: D
authors.lastname: Nolte
mesh_terms: D049069:ATP-Dependent Proteases / Q000235:genetics*; D000074183:ATPases Associated with Diverse Cellular Activities; D017668:Age of Onset; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D018450:Disease Progression; D005192:Family Health; D005260:Female; D050259:Genes, Mitochondrial / Q000235:genetics; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics*
chemical_list: D049069:ATP-Dependent Proteases; C120699:AFG3L2 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities