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Table 1 Summary of NIID cases

From: NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Patient

Sex

Age at diagnosis of NIID (Years)

Age at ophthalmology exam (Years)

NOTCH2NLC GGC repeat number

Neurological findings

Non-expanded

Expanded

Case 1

M

67

81

13

97

Cognitive dysfunction, Ataxia, Aphasia, Bladder dysfunction

Case 2

F

75

78

13

87

Cognitive dysfunction, Ataxia, Bladder dysfunction

Case 3

F

67

72

9

134

Cognitive dysfunction, Ataxia

Case 4

F

75

75

7

119

Cognitive dysfunction, Ataxia