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Klivényi P, Nemeth D, Sefcsik T, et al. Cognitive functions in ataxia with oculomotor apraxia type 2. Front Neurol. 2012;3:125doi: 10.3389/fneur.2012.00125.
Klivényi, P., Nemeth, D., Sefcsik, T., Janacsek, K., Hoffmann, I., Haden, G. P., Londe, Z., & Vecsei, L. (2012). Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in neurology, 3125. https://doi.org/10.3389/fneur.2012.00125
Klivényi, Peter, et al. "Cognitive functions in ataxia with oculomotor apraxia type 2." Frontiers in neurology vol. 3 (2012): 125. doi: https://doi.org/10.3389/fneur.2012.00125
Klivényi P, Nemeth D, Sefcsik T, Janacsek K, Hoffmann I, Haden GP, Londe Z, Vecsei L. Cognitive functions in ataxia with oculomotor apraxia type 2. Front Neurol. 2012 Aug 10;3:125. doi: 10.3389/fneur.2012.00125. eCollection 2012. PMID: 23015802; PMCID: PMC3449493.
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Front Neurol. 2012 Aug 10;3:125. doi: 10.3389/fneur.2012.00125. eCollection 2012.

Cognitive functions in ataxia with oculomotor apraxia type 2.

Frontiers in neurology

Peter Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, Laszlo Vecsei

Affiliations

  1. Department of Neurology, University of Szeged Szeged, Hungary.

PMID: 23015802 PMCID: PMC3449493 DOI: 10.3389/fneur.2012.00125

Abstract

BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of the present study was to investigate the neuropsychological profile of a 54-year-old patient with AOA2.

METHODS: A broad range of neuropsychological examination protocol was administered including the following domains: short-term, working- and episodic-memories, executive functions, implicit sequence learning, and the temporal parameters of speech.

RESULTS: The performance on the Listening Span, Letter Fluency, Serial Reaction Time Task, and pause ratio in speech was 2 or more standard deviations (SD) lower compared to controls, and 1 SD lower on Backward Digit Span, Semantic Fluency, articulation rate, and speech tempo.

CONCLUSION: These findings indicate that the pathogenesis of the cerebrocerebellar circuit in AOA2 is responsible for the weaker coordination of complex cognitive functions such as working memory, executive functions, speech, and sequence learning.

Keywords: ataxia oculomotor apraxia 2; cognition; executive functions; fluency; implicit sequence learning; neuropsychology; speech; working memory

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