title: Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
abstract: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it
authors.forename: C
authors.initials: C
authors.lastname: Criscuolo
authors.forename: P
authors.initials: P
authors.lastname: Mancini
authors.forename: F
authors.initials: F
authors.lastname: Saccà
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: A
authors.initials: A
authors.lastname: Monticelli
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: V
authors.initials: V
authors.lastname: Scarano
authors.forename: S
authors.initials: S
authors.lastname: Banfi
authors.forename: A
authors.initials: A
authors.lastname: Filla
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D001072:Apraxias / Q000453:epidemiology / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D003062:Codon / Q000235:genetics; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D005133:Eye Movements; D005207:Fasciculation / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D034141:Hypoalbuminemia / Q000453:epidemiology / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000453:epidemiology / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation
chemical_list: C438188:APTX protein, human; D003062:Codon; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins