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Table 2 Clinical characteristics of SCA14 subjects

From: Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

Patient

Age at examination, y

Age at onset, y

SARA baseline

SARA 3 years follow up

MMS

MRI

Family 1

      

V-5

49

12

5.50

8.50

29

Cerebellar atrophy, most prominent in vermis

V-3

45

20

6.00

9.00

29

Cerebellar atrophy, most prominent in vermis

V-4

43

35

5.50

10.00

30

Cerebellar atrophy, most prominent in vermis

VI-3

20

10

10.50

12.50

29

Cerebellar atrophy

VI-1

20

10

4.00

5.00

30

**

VI-2

17

10

5.00

6.50

30

Minimal cerebellar atrophy

V-1

44

29

5.00

6.50

30

Cerebellar atrophy, most prominent in vermis

V-8

46

45

0.00

2.50

30

Cerebellar atrophy, most prominent in vermis

V-10*

54*

 

0

0

30

**

Family 2

      

III-3

53

35

11.00

14.00

30

Cerebellar atrophy, some scattered unspecific white matter lesions

  1. *This subject was without symptoms and signs, but was confirmed to have the SCA14 mutation.
  2. **MRI not performed.