Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2

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

doi:10.3389/fneur.2012.00125

Peter Klivényi, Karolina Janacsek + Show 6 more

Open Access

https://doi.org/10.3389/fneur.2012.00125

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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.

Highlights

Ataxia with oculomotor apraxia type 2 (AOA2) was first described in 1998 in a Japanese family (Watanabe et al, 1998)
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
Our study goes beyond previous studies in the following ways: (1) we investigate different aspects of memory compared to Le Ber et al (2004), and (2) cognitive sequencing is tested with implicit sequence learning and spontaneous speech analysis

Summary

Introduction

Ataxia with oculomotor apraxia type 2 (AOA2) was first described in 1998 in a Japanese family (Watanabe et al, 1998) This autosomal recessive, slowly progressing ataxia is characterized by cerebellar symptoms, oculomotor apraxia, elevated serum alphafetoprotein (AFP) levels, and peripheral neuropathy. 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. 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. 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

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Conclusion