Dement Neurocogn Disord.  2014 Mar;13(1):16-19. 10.12779/dnd.2014.13.1.16.

Spinocerebellar Ataxia Type 2 with Only Clinical Feature of Memory Impairment: Case Report

• Joo J
• Han SW
• Ha SW
• Han JH
• Kim DE
• Yang Y

• KMID: 1973685
• DOI: http://doi.org/10.12779/dnd.2014.13.1.16

Abstract

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. There are more than 35 different types of spinocerebellar ataxias, each caused by a different genetic mutation. Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. The age at onset varies from 3 to 79 years (mean 33). Usually, the first symptom of the disease is the gait ataxia, followed by the cerebellar dysarthria. Of late, other clinical manifestations of SCA2 are the cognitive dysfunctions, which include frontal executive impairment, verbal short-term memory deficits as well as reduction of attention and concentration. We report a 56-year old woman identified as spinocerebellar ataxia type 2 (SCA2) with only clinical feature of memory impairment.

Keyword

Spinocerebellar ataxia type 2; Memory impairment

MeSH Terms

Ataxia
Cerebellar Ataxia
Chorea
Dysarthria
Eye Movements
Female
Gait
Gait Ataxia
Hand
Humans
Memory*
Memory, Short-Term
Middle Aged
Ophthalmoplegia
Saccades
Spinocerebellar Ataxias*

Figure

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  Fig. 1 Pedigree of the present family.

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  Fig. 2 Brain MR image shows no definite abnormal findings.

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  Fig. 3 Brain positron emission tomography shows no significant focal metabolic abnormality in the cerebral hemispheres.

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