Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis

Stefano D'Arrigo; Daria Riva; Sara Bulgheroni; Luisa Chiapparini; Barbara Castellotti; Cinzia Gellera; Chiara Pantaleoni

doi:10.1177/0883073808314959

Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis

Stefano D'Arrigo, Daria Riva, Sara Bulgheroni, Luisa Chiapparini, Barbara Castellotti, Cinzia Gellera, Chiara Pantaleoni

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	895-900
Number of pages	6
Journal	Journal of Child Neurology
Volume	23
Issue number	8
DOIs	https://doi.org/10.1177/0883073808314959
Publication status	Published - Aug 2008

Keywords

AOA1
Ataxia
Cerebellar atrophy

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health

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10.1177/0883073808314959

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Ataxia with oculomotor apraxia type 1 (AOA1) : Clinical and neuropsychological features in 2 new patients and differential diagnosis. / D'Arrigo, Stefano; Riva, Daria; Bulgheroni, Sara ; Chiapparini, Luisa ; Castellotti, Barbara ; Gellera, Cinzia ; Pantaleoni, Chiara.

In: Journal of Child Neurology, Vol. 23, No. 8, 08.2008, p. 895-900.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Gellera, Cinzia

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Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis

Abstract

Keywords

ASJC Scopus subject areas

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