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Cognitive functions in ataxia with oculomotor apraxia type 2
Peter Klivényi1, Dezso Nemeth, Tamas Sefcsik
1Department of Neurology, University of Szeged Szeged, Hungary.
Frontiers in Neurology
|September 28, 2012
Summary
Ataxia with oculomotor apraxia type 2 (AOA2) impairs cognitive functions. This study found deficits in working memory, executive functions, speech, and sequence learning in an AOA2 patient.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Ataxia with oculomotor apraxia type 2 (AOA2) is a rare cerebellar disorder.
- Caused by senataxin gene mutations, it presents with cerebellar atrophy, neuropathy, and elevated alpha-fetoprotein (AFP).
- Cognitive functions in AOA2 have not been previously detailed.
Purpose of the Study:
- To investigate the neuropsychological profile of a patient with Ataxia with oculomotor apraxia type 2.
- To identify specific cognitive deficits associated with AOA2.
Main Methods:
- Administered a comprehensive neuropsychological examination protocol.
- Assessed domains including memory, executive functions, implicit sequence learning, and speech parameters.
- Compared patient performance to control group data.
Main Results:
- Patient performance was significantly lower than controls in working memory (Listening Span, Backward Digit Span) and executive functions (Letter Fluency, Semantic Fluency).
- Deficits were also observed in implicit sequence learning (Serial Reaction Time Task) and speech parameters (pause ratio, articulation rate, speech tempo).
- Performance was 2+ SD below controls for Listening Span, Letter Fluency, Serial Reaction Time Task, and pause ratio; 1 SD below for Backward Digit Span, Semantic Fluency, articulation rate, and speech tempo.
Conclusions:
- The findings suggest AOA2 impacts the cerebrocerebellar circuit.
- This neurological pathway disruption leads to impaired coordination of complex cognitive functions.
- Working memory, executive functions, speech, and sequence learning are particularly affected in AOA2.
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