title: Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
abstract: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cognitive impairment are present in the adult stage. AOA1 is caused by a mutation in the APTX gene (9p13.3) encoding a nuclear protein named aprataxin, which is involved in the mechanism of DNA repair. We report here the clinical features of 2 patients with mutations in the APTX gene, and we discuss the differential diagnosis with other forms of hereditary ataxia.
authors.affiliation: Developmental Neurology Department, Istituto Neurologico C. Besta, Milan, Italy. darrigo@istituto-besta.it
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: Daria
authors.initials: D
authors.lastname: Riva
authors.forename: Sara
authors.initials: S
authors.lastname: Bulgheroni
authors.forename: Luisa
authors.initials: L
authors.lastname: Chiapparini
authors.forename: Barbara
authors.initials: B
authors.lastname: Castellotti
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000175:diagnosis / Q000235:genetics*; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D009687:Nuclear Proteins / Q000235:genetics; D011115:Polyneuropathies / Q000175:diagnosis / Q000235:genetics*
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; C063306:HINT1 protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins