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Table 2 Cases with positive pathogenic variants

From: Whole exome sequencing in a sample of Egyptian patients with covert cerebral small vessel disease

 

Case 1

Case 2

Age

57 years

68 years

Gender

Female

Male

Educational level

Secondary grade

Secondary grade

Education years

14

14

Risk factors

  

Smoking

No

Yes

Diabetes

No

No

Hypertension

Yes

No

Dyslipidaemia

No

No

ISHD

No

No

Previous CVS

No

No

Family history of similar condition

Yes

No

Age of onset

52

65

Duration of symptoms

5

3

First presenting symptom

Cognitive impairment

Cognitive impairment

MoCA

11/30

21/30

Berg Balance scale

16/56

32/56

10 MWT (m/sec)

0.25

0.49

ICIQ-SF

18/21

0/21

Fazekas scale

3

2

Small vessel disease scale

3

3

Global cortical atrophy scale

4

22

  1. CVS Cerebrovascular stroke, MoCA Montreal Cognitive Assessment, 10MWT 10-m walk test, ICIQ-SF the Arabic International Consultation on Incontinence Questionnaire-Short Form Scale, SVD small vessel disease, ISHD ischemic heart disease