Skip to main content

Table 1 Clinical features of study participants (n = 6)

From: Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease

 

F 1

F 2

M 1

M 2

M 3

M 4

Mutation

c.344C>T

c.1909A>C

c.344C>T

c.1909A>C

c.1399C>T

c.1848G>A

T115M

S637R

T115M

S637R

R467X

T616X

Participant information

 Place of residence

Hokkaido island

The main island

Hokkaido island

The main island

Shikoku island

Shanghai in China

 Age at onset (years)

58

60

46

Unknown

15

13

 Age at detection of calcification (years)

60

60

50

22

23

25

 Age at diagnosis of IBGC3 (years)

69

64

50

22

26

26

 Onset symptom

Dysarthria

Dysarthria

Easy to anger

PKC

PKC

Interview

 Age at interview (years)

72

66

50

22

26

28

 Symptoms at interview

Forgetful, headache

Speech, gait, forgetful, headache

Headache, cramp, forgetful

Unstable

Cramp

Headache, unstable

Family information

 Other patients in the family

Her son and five relatives

Her son

His mother and five relatives

His mother

His mother

Three relatives

References

II-1 in F3 Case 3, Yamada et al. (2014)

III-1 in F1 Case 1, Yamada et al. (2014)

II-1 in F3, Yamada et al. (2014)

II-2 in F1, Yamada et al. (2014)

Case 5, Yamada et al. (2014)

Figure 1