Journal List > Dement Neurocogn Disord > v.13(1) > 1120722

Joo, Han, Ha, Han, Kim, and Yang: Spinocerebellar Ataxia Type 2 with Only Clinical Feature of Memory Impairment: Case Report


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.

Figures and Tables

Fig. 1
Pedigree of the present family.
Fig. 2
Brain MR image shows no definite abnormal findings.
Fig. 3
Brain positron emission tomography shows no significant focal metabolic abnormality in the cerebral hemispheres.
Table 1
Neuropsychological test

The patient's performances on neuropsychological tests, corrected for age and education and compared to published Korean norms. Impaired performances were observed on executive function testing with difficulties in planning, abstract reasoning and set shifting. Furthermore perseveration, attentional disorders and memory dysfunction were mild observed and were probably due to the poor ability of planning and organisation.

Table 2
Ataxia Trinucleotide Repeat Analysis Report

Gene study shows abnormal CAG trinucleotide repeats expansion, which is indicative of spinocerebellar ataxia type 2.


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