Cognitive functions in ataxia with oculomotor apraxia type 2

P. Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, L. Vécsei

Research output: Contribution to journalArticle

7 Citations (Scopus)

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 neu-ropsychological profile of a 54-year-old patient with AOA2. Methods: A broad range of neu-ropsychological 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 inAOA2 is responsible for the weaker coordination of complex cognitive functions such as working memory, executive functions, speech, and sequence learning.

Original languageEnglish
Article numberArticle 125
JournalFrontiers in Neurology
VolumeAUG
DOIs
Publication statusPublished - 2012

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Cognition
Executive Function
Short-Term Memory
Learning
Cerebellar Diseases
Apraxias
Episodic Memory
Coordination Complexes
alpha-Fetoproteins
Peripheral Nervous System Diseases
Semantics
Reaction Time
Atrophy
Autosomal recessive 1 Spinocerebellar ataxia
Mutation
Serum
Genes

Keywords

  • Ataxia oculomotor apraxia 2
  • Cognition
  • Executive functions
  • Fluency
  • Implicit sequence learning
  • Neuropsychology
  • Speech
  • Working memory

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Cognitive functions in ataxia with oculomotor apraxia type 2. / Klivényi, P.; Nemeth, Dezso; Sefcsik, Tamas; Janacsek, Karolina; Hoffmann, Ildiko; Haden, Gabor Peter; Londe, Zsuzsa; Vécsei, L.

In: Frontiers in Neurology, Vol. AUG, Article 125, 2012.

Research output: Contribution to journalArticle

Klivényi, P, Nemeth, D, Sefcsik, T, Janacsek, K, Hoffmann, I, Haden, GP, Londe, Z & Vécsei, L 2012, 'Cognitive functions in ataxia with oculomotor apraxia type 2', Frontiers in Neurology, vol. AUG, Article 125. https://doi.org/10.3389/fneur.2012.00125
Klivényi P, Nemeth D, Sefcsik T, Janacsek K, Hoffmann I, Haden GP et al. Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in Neurology. 2012;AUG. Article 125. https://doi.org/10.3389/fneur.2012.00125
Klivényi, P. ; Nemeth, Dezso ; Sefcsik, Tamas ; Janacsek, Karolina ; Hoffmann, Ildiko ; Haden, Gabor Peter ; Londe, Zsuzsa ; Vécsei, L. / Cognitive functions in ataxia with oculomotor apraxia type 2. In: Frontiers in Neurology. 2012 ; Vol. AUG.
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