TY - JOUR
T1 - Ataxia with oculomotor apraxia type 1 (AOA1)
T2 - Clinical and neuropsychological features in 2 new patients and differential diagnosis
AU - D'Arrigo, Stefano
AU - Riva, Daria
AU - Bulgheroni, Sara
AU - Chiapparini, Luisa
AU - Castellotti, Barbara
AU - Gellera, Cinzia
AU - Pantaleoni, Chiara
PY - 2008/8
Y1 - 2008/8
N2 - 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.
AB - 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.
KW - AOA1
KW - Ataxia
KW - Cerebellar atrophy
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U2 - 10.1177/0883073808314959
DO - 10.1177/0883073808314959
M3 - Article
C2 - 18403580
AN - SCOPUS:48449089694
VL - 23
SP - 895
EP - 900
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 8
ER -