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Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2

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 disor...

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Autores principales: Klivényi, Peter, Nemeth, Dezso, Sefcsik, Tamas, Janacsek, Karolina, Hoffmann, Ildiko, Haden, Gabor Peter, Londe, Zsuzsa, Vecsei, Laszlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Research Foundation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449493/
https://www.ncbi.nlm.nih.gov/pubmed/23015802
http://dx.doi.org/10.3389/fneur.2012.00125
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author Klivényi, Peter
Nemeth, Dezso
Sefcsik, Tamas
Janacsek, Karolina
Hoffmann, Ildiko
Haden, Gabor Peter
Londe, Zsuzsa
Vecsei, Laszlo
author_facet Klivényi, Peter
Nemeth, Dezso
Sefcsik, Tamas
Janacsek, Karolina
Hoffmann, Ildiko
Haden, Gabor Peter
Londe, Zsuzsa
Vecsei, Laszlo
author_sort Klivényi, Peter
collection PubMed
description 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.
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spelling pubmed-34494932012-09-26 Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2 Klivényi, Peter Nemeth, Dezso Sefcsik, Tamas Janacsek, Karolina Hoffmann, Ildiko Haden, Gabor Peter Londe, Zsuzsa Vecsei, Laszlo Front Neurol Neuroscience 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. Frontiers Research Foundation 2012-08-10 /pmc/articles/PMC3449493/ /pubmed/23015802 http://dx.doi.org/10.3389/fneur.2012.00125 Text en Copyright © 2012 Klivényi, Nemeth, Sefcsik, Janacsek, Hoffmann, Haden, Londe and Vecsei. http://www.frontiersin.org/licenseagreement This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc.
spellingShingle Neuroscience
Klivényi, Peter
Nemeth, Dezso
Sefcsik, Tamas
Janacsek, Karolina
Hoffmann, Ildiko
Haden, Gabor Peter
Londe, Zsuzsa
Vecsei, Laszlo
Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
title Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
title_full Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
title_fullStr Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
title_full_unstemmed Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
title_short Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2
title_sort cognitive functions in ataxia with oculomotor apraxia type 2
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449493/
https://www.ncbi.nlm.nih.gov/pubmed/23015802
http://dx.doi.org/10.3389/fneur.2012.00125
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