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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Research Foundation
2012
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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. |
format | Online Article Text |
id | pubmed-3449493 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Frontiers Research Foundation |
record_format | MEDLINE/PubMed |
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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