Table 1 clinical manifestation of JHD with DNA analysis and family history

1 [21]

6

character changes, anxiety, irritability, distractibility

unknown

paternal

2 [13]

2

rigid

250/19

maternal

3 [22]

17

balance and gait impairment

62/22

paternal

4 [22]

20

balance and gait impairment

61/22

paternal

5 [23]

6

seizure

115

paternal

6 [24]

2.5

hypokinetic/rigid syndrome

102

unknown

7 [25]

1

dystonia, speech impairment

256/14

paternal

8 [26]

10

depression

71

paternal

9 [27]

3

development delay, seizure

214

paternal

10 [28]

3.5

cognitive decline

84/15

maternal

11 [29]

3.5

speech impairment

108

maternal

12 [30]

3

ataxia

130–150/20

maternal

13 [31]

2

dysarthria, ataxia

53

paternal

14 [31]

4

dystonia

69

maternal

15 [31]

8

ataxia

41

paternal

16 [31]

13

visual hallucination

66

paternal

17 [32]

16

eating disorder

55/17

unknown

18 [33]

5

lethargy, poor balance

greater than 64

parental

19 [3]

4

excessive blinking

108/47

parental

20 [34]

5

ADHD

75

no family history

21 [35]

2

oral motor dysfunction and gait disturbance

160/60

maternal

22 [36]

5

behavioral disorders

52/15

maternal

23 [37]

6

seizure

140/20

parental

24 [38]

1.5

motor and speech delay

210–250/35

parental

25 [39]

3

speech impairment

95/17

no family history

26 [40]

20

seizure

60/21

parental

27 [41]

15

dystonia, parkinsonism

67/30

no family history, but father carried a reduced penetrance repeat

28 [42]

6

motor and speech regression

72

unknown

29 [4]

8

seizure

104/17

parental

30 [4]

10

tics

82/18

no family history

31 [4]

9

cognitive decline

76/17

parental

32 [4]

12

ataxia

74/17

parental

33 [43]

8

falls, ataxic gait and bradykinesia, seizure

82

no family history