title: Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.
abstract: Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot-Marie-Tooth type 2 (CMT 2A). We report the first two Spanish families with CMT 2 and mutations in MFN2 gene. Molecular studies of one family with late onset revealed the novel mutation Arg364Gln. The affected family members presented mild clinical and electrophysiological worsening after 14 years of follow-up. The other family presented an early onset and optic atrophy. Molecular studies revealed the Arg94Gln mutation. This is the first report of a family in which this mutation is related to optic atrophy. Molecular analysis aimed at detecting mutations of MFN2 could be extremely useful in mild axonal neuropathies with slow evolution and indispensable in cases of dominant inheritance or optic atrophy. Population studies of mutations in MFN2 should be undertaken to discover the real frequencies in the Mediterranean area.
authors.affiliation: Molecular Diagnosis Center of Inherited Diseases, Institut d'Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Banchs
authors.forename: C
authors.initials: C
authors.lastname: Casasnovas
authors.forename: J
authors.initials: J
authors.lastname: Montero
authors.forename: J A
authors.initials: JA
authors.lastname: Martínez-Matos
authors.forename: V
authors.initials: V
authors.lastname: Volpini
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis / Q000379:methods; D004594:Electrophysiology; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009896:Optic Atrophy / Q000209:etiology / Q000473:pathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D013030:Spain; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human