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Table 2 Clinical, neuroimaging and serological characteristics of all patients

From: Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play?

Gender

Age at 1st presentation

First symptoms

Age at first symptoms

First diagnosis

Second symptoms

Age at second diagnosis

MRI

Abnormal

MRS

SNAPs

Gluten serology

Duodenum biopsy

HLA

Other evidence of autoimmunity

Cancer

Age at cancer diagnosis

Genetics

Truly idiopathic

Female

48

Unsteadiness in the dark

48

SG

Worsening of balance

63

Normal for age

Vermis and hemisphere

Absent

Negative

N/A

DQ2

ENA+ ANA+, Crohn’s

  

Negative

 

Female

59

Patchy numbness

57

SG

No new symptoms

60

Normal for age

Vermis

Asymmetrical

Positive

CD

DQ2

TPO+, dsDNA+, RF+

Ovarian

38

  

Male

40

Patchy numbness

38

SG

Worsening of balance

62

Normal for age

Vermis

Absent

Positive

Normal

DQ2

P-ANCA+, ANA+, GM1+, Sarcoidosis

    

Male

60

Patchy burning pain

59

SG

No new symptoms

65

Normal for age

Hemisphere

Asymmetrical

Positive

Normal

DQ2

     

Female

76

Unsteadiness/Numbness

76

SG

Worsening of balance

84

Normal for age

Hemisphere

Asymmetrical

Positive

CD

DQ2

     

Male

49

Patchy numbness

49

SG

No new symptoms

72

Normal for age

Hemisphere

Absent

Negative

N/A

DQ1

ANA+, RF+

  

Negative

 

Male

52

Pain in feet

49

SG

Worsening of balance

70

Normal for age

Vermis

Asymmetrical

Negative

N/A

DQ1

ANA+, P-ANCA+, SACE+

    

Female

55

Patchy numbness

55

SG

Worsening of balance

69

Normal for age

Vermis

Asymmetrical

Negative

N/A

Not done

ANA+, ENA+ (Sjogren’s)

    

Male

67

Unsteadiness

64

SG

Worsening of balance

68

Cerebellar atrophy

Vermis

Absent

Negative

N/A

DQ2

ANA+, P-ANCA+, MGUS

    

Female

61

Patchy pain

61

SG

Worsening of balance

67

Normal for age

Hemisphere

Asymmetrical

Negative

N/A

Not done

ANA+, ENA+ (Sjogren’s)

    

Female

58

Patchy numbness

57

SG

Worsening of balance

74

Normal for age

Hemisphere

Asymmetrical

Negative

N/A

Other

    

Yes

Female

35

Patchy numbness

35

SG

Worsening of balance

49

Normal for age

Vermis and hemisphere

Asymmetrical

Negative

N/A

Not done

ANA+, ENA+ (Sjogren’s)

    

Female

42

Unsteadiness

42

Cerebellar ataxia

Patchy sensory loss

46

Cerebellar atrophy

Vermis and hemisphere

Asymmetrical

Negative

N/A

DQ1

Anti-Yo+

Ovarian

41

  

Male

14

Unsteadiness

14

Cerebellar ataxia

Worsening of balance

58

Cerebellar atrophy

Vermis

Asymmetrical

Positive

CD

DQ2

GAD+

  

Mitochondrial

 

Female

57

Unsteadiness/Dizziness

55

Cerebellar ataxia

Sensory symptoms

69

Cerebellar atrophy

Vermis

Absent

Positive

Normal

DQ1

GAD+

  

SCA18

 

Male

52

Unsteadiness

51

Cerebellar ataxia

Sensory symptoms

57

Cerebellar atrophy

Vermis and hemisphere

Absent

Positive

Normal

DQ8

   

Negative

 

Female

50

Unsteadiness/

Slurred speech

47

Cerebellar ataxia

Sensory symptoms

54

Cerebellar atrophy

Vermis and hemisphere

Asymmetrical

Positive

Not done

DQ2

RF+

  

Negative

 

Male

44

Unsteadiness

39

Cerebellar ataxia

No new symptoms

46

Cerebellar atrophy

Vermis

Asymmetrical

Positive

Normal

DQ8

   

Negative

 

Female

54

Unsteadiness

53

Cerebellar ataxia

Sensory symptoms

60

Cerebellar atrophy

Vermis and hemisphere

Asymmetrica

Positive

Normal

DQ2

 

Colon

69

Negative

 

Male

67

Unsteadiness

54

Cerebellar ataxia

No new symptoms

76

Cerebellar atrophy

Vermis and hemisphere

Absent

Positive

Normal

DQ2

ANA+

  

Negative

 

Male

66

Unsteadiness

66

Cerebellar ataxia

No new symptoms

67

Cerebellar atrophy

Vermis and hemisphere

Absent

Negative

N/A

DQ2

ANA+

Bowel

68

  

Female

66

Unsteadiness

63

Cerebellar ataxia

Sensory symptoms

68

Normal for age

Vermis and hemisphere

Absent

Negative

N/A

DQ2

   

Negative

Yes

Female

65

Unsteadiness

59

Cerebellar ataxia

Patch sensory loss

68

Cerebellar atrophy

Vermis

Absent

Negative

N/A

DQ8

C-ANCA+, MGUS

Myltiple myeloma - light chain

70

Negative

 

Female

46

Unsteadiness

46

Cerebellar ataxia

Patchy sensory loss

58

Cerebellar atrophy

Vermis

Asymmetrical

Negative

N/A

DQ1

TPO+

  

Negative

 

Female

66

Unsteadiness

64

Cerebellar ataxia

No new symptoms

69

Normal for age

Vermis and hemisphere

Asymmetrical

Negative

N/A

DQ2

   

Negative

Yes

Female

68

Unsteadiness

67

Cerebellar ataxia

Sensory symptoms

69

Normal for age

Vermis and hemisphere

Absent

Negative

N/A

DQ2

ANA+, TPO+

    

Male

81

Unsteadiness

79

Cerebellar ataxia

Worsening of balance

85

Normal for age

Vermis and hemisphere

Asymmetrical

Negative

N/A

Not done

MGUS

Melanoma/

Possibly prostate

86

  

Female

29

Unsteadiness

8

Cerebellar ataxia

Sensory symptoms

33

Cerebellar atrophy

Vermis and hemisphere

Asymmetrical

Positive

Normal

DQ2

OCB+, TPO+, GAD+ (one occasion only)

  

Negative

 

Male

43

Unsteadiness

34

Both at the same time

 

43

Cerebellar atrophy

Hemisphere

Asymmetrical

Positive

Normal

DQ2

RF+

    

Female

61

Unsteadiness/Numbness

60

Both at the same time

 

61

Cerebellar atrophy

Vermis

Absent

Positive

Normal

DQ1

 

Malignancy of unknown primary location

64

Negative

 

Female

81

Unsteadiness

80

Both at the same time

 

81

Cerebellar atrophy

Vermis

Asymmetrical

Positive

Normal

Not done

     

Male

51

Unsteadiness/Numbness

51

Both at the same time

 

51

Cerebellar atrophy

Vermis and hemisphere

Asymmetrical

Positive

Normal

DQ1

     

Female

55

Unsteadiness/Pain

49

Both at the same time

 

55

Cerebellar atrophy

Vermis

Absent

Negative

N/A

DQ1

GAD+, P-ANCA+

Uterus

39

Negative

 

Male

64

Unsteadiness

54

Both at the same time

 

64

Cerebellar atrophy

Vermis and hemisphere

Absent

Negative

N/A

DQ8

MGUS

  

Negative

 

Male

70

Unsteadiness

67

Both at the same time

 

70

Normal for age

Vermis

Absent

Negative

N/A

DQ1

C-ANCA+

    

Male

54

Unsteadiness

49

Both at the same time

 

54

Cerebellar atrophy

Vermis and hemisphere

Asymmetrical

Negative

N/A

DQ2

TPO+

    

Female

70

Unsteadiness

69

Both at the same time

 

70

Normal for age

Vermis and hemisphere

Asymmetrical

Negative

N/A

Not done

ANA+, ENA+ (Sjogren’s), RF+

Bowel

71

  

Male

57

Unsteadiness

55

Both at the same time

 

57

Cerebellar atrophy

Vermis

Absent

Positive

Normal

DQ2

   

Negative

 

Male

61

Unsteadiness/Numbness

61

Both at the same time

 

62

Normal for age

Vermis and hemisphere

Asymmetrical

Positive

Normal

DQ8

ENA+

    

Female

69

Unsteadiness

64

Both at the same time

 

69

Cerebellar atrophy

Vermis and hemisphere

Asymmetrical

Positive

Normal

DQ8

P-ANCA+