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Table 1 Clinical features of examined patients with spinocerebellar ataxia

From: Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families

Family

Individual

AO examination

AO Onset

AO Death

Genotype

(SCA7)

Clinical symptoms

Ataxia

Visual loss

Ptosis

Ophthalmoplegia

Bulbar syndrome

Dysarthria

Spasticity

Dementia

CT

MRI

1

i.1

71

59

73

NT

x

x

x

x

x

x

x

x

Brainstem & cerebellar atrophy

 

ii.10

51

Early 40’s

U

N/E (9/50)

x

x

x

x

x

x

x

  

Diffuse cerebral and cerebellar atrophy, mild brainstem and cortical atrophy

ii.11

36

U

U

N/E

(9/55)

x

x

x

x

 

x

 

x

 

Ponto-Cerebellar ND cortical atrophy

ii.13

44

U

U

N/E

(9/50)

x

x

x

x

 

x

   

Cerebellar and mild pontine and cortical atrophy

ii.14

 

18

29

N/E

x

x

  

x

x

    

ii.16

 

29

36

NT

x

x

x

x

x

x

x

x

Mild cerebral and severe cerebellar atrophy

Mild cerebral and severe cerebellar atrophy

ii.19

39

U

U

NT

x

x

x

x

 

x

   

Cerebellar atrophy and cortical atrophy.

iii.11

12

12

U

10/56

x

x

x

x

 

x

x

 

Cerebellar atrophy

Cerebellar atrophy

iii.12

20

17

U

9/47

 

x

x

     

Cerebellar atrophy

 

2

iii.1

33

29

U

N/E

x

x

 

x

 

x

 

x

 

Severe diffuse cerebral and cerebellar atrophy

iii.3

30

U

U

N/E

(9/52)

x

x

 

x

 

x

 

x

 

Olivo-ponto-cerebellar and cortical atrophy

3

iii.11

 

U

U

NT

x

x

 

x

      

iv.10

26

16

U

NT

x

x

x

    

x

 

Mild cerebral and cerebellar atrophy

4

iii.8

68

60

U

N/E

x

x

 

x

 

x

 

x

 

Diffuse cerebral and cerebellar atrophy

iv.12

25

16

U

N/E

x

x

x

x

 

x

  

Cerebellar and diffuse cerebral atrophy

Cerebellar and diffuse cerebral atrophy

5

ii.2

 

53

U

NT

x

       

Cerebellar atrophy

 

iii.4

36

28

U

NT

x

  

x

 

x

 

x

Mild cerebral and moderate cerebellar atrophy

 

6

iii.7

25

19

U

NT

x

    

x

 

x

 

Cerebellar atrophy and mild pons atrophy

7

ii.3

31

23

U

NT

x

    

x

   

Mild cerebellar atrophy

  1. AO Age of, U unknown, NT not tested, N indicates CAG allele within unaffected/normal range, E indicates CAG allele within pathogenic range, number of CAG repeats in brackets, if available