Epidemiology and Genetic Inheritance of Probable Chorea Acanthocytosis

From 1974 to 2005, at least 71 cases of probable ChAc were reported in Japan, according to this search of the Japanese literature. Most cases were diagnosed clinically without any molecular studies, except for the most recent five cases of ChAc. Without definitive molecular testing, McLeod syndrome or other diseases with acanthocytosis and choreiform involuntary movments cannot be excluded. The patients were widely distributed throughout Japan, including Hokkaido, Honshu, Sikoku and Kyushu islands, with some preponderance of the western part of Japan, but without any endemic areas (Fig. 1).

The mode of transmission seems to be predominantly autosomal recessive. Among the early well-studied 25 cases, 20 cases occurred in 14 families. There was autosomal recessive inheritance in 12 families and autosomal dominant (AD) inheritance in 2 families. In these two AD families, a paternal uncle and paternal grandfather suffered a similar neurodegenerative disease, excluding X-linked inheritance. No X-linked pedigree was reported in these cases. Five cases were apparently sporadic in this series. Recently two more families of molecularly confirmed ChAc were reported with an inheritance pattern strongly suggestive of AD inheritance [10, 26].

Table 1 Summary of clinical features of 25 early Japanese cases of probable chorea-acanthocytosis

References

Age

Sex

Age of onset (year)

IVM

Self-mutil.

DTR

Sz

IQ <80

Acanthocytes (%) Caudate atrophy

CPK

FH Inherit

[32]

22

M

18

+

+

hypo

-

98

6-7

+

high

+AR

[33]

34

F

20

+

+

hypo

GM

72

6-7

+

NL

-

[11]

50

M

36

+

ND

hypo

-

104

+

+

ND

+AD

[22]

38

F

29

+

+

NL

GM

90

30

+

high

+AR

[15]

44

M

34

+

+

hypo

-

NL

8

-

high

+AR

47

F

25

+

+

hypo

+

NL

6-7

+

high

+AR

45

F

31

+

-

ND

+

ND

bizarre E

ND

ND

+AR

[41]

41

M

34

+

+

hypo

-

low

30-35

+

high

+AR

40

F

34

+

+

hypo

+

low

6-7

+

high

+AR

[18]

36

M

32

+

+

hypo

+

76

40-50

+

high

+AR

37

M

34

+

+

hypo

GM

90

10-20

+

high

+AR

[8]

50

M

35

+

+

hypo

GM

73

20

+

NL

+AR

[21]

35

F

31

+

+

ND

GM

ND

10

ND

ND

+AR

[-]

38

M

24

+

+

hypo

-

NL

10-20

+

high

+AD

[29]

31

M

28

+

+

hypo

-

NL

30-80

+

high

+AR

47

M

27

+

+

hypo

-

NL

50-80

+

high

+AR

37

M

34

+

+

hypo

-

90

20-30

+

high

-

[17]

37

M

32

-

+

hypo

-

low

45

+

high

+AR

30

F

27

+

+

hypo

-

81

26

+

high

+AR

46

M

42

+

+

hypo

GM

88

26

+

high

-

47

M

40

-

+

hypo

-

97

15

+

high

-

28

M

28

+

+

hypo

-

64

57

+

high

+AR

22

M

ND

+

-

hypo

-

90

58

+

high

+AR

[34]

26

M

21

+

+

hypo

-

72

6

+

high

+AR

[1]

46

F

37

+

+

-

NL

20

+

NL

-

Total 25 cases

-

18:7

30.5

23/25

22/24

22/23

10/25

10/25

6-80%

23/23

19/22

AR:AD=18:2

Mean value

38.2

-

-

-

-

-

-

-

24%

-

-

-

AD autosomal dominant, AR autosomal recessive, bizarre E bizarre erythrocytes, CPK creatine phophokinase, DTR deep tendon reflexes, F female, FH inherit family history and inheritance pattern, GM grand mal type of seizure, hypo hypoactive, IVM involuntary movements, M male, ND not described, NL normal, trait, Sz seizure, Selfmutil. self-mutilation

AD autosomal dominant, AR autosomal recessive, bizarre E bizarre erythrocytes, CPK creatine phophokinase, DTR deep tendon reflexes, F female, FH inherit family history and inheritance pattern, GM grand mal type of seizure, hypo hypoactive, IVM involuntary movements, M male, ND not described, NL normal, trait, Sz seizure, Selfmutil. self-mutilation

Fig. 1 Distribution of patients with probable chorea-acanthocytosis in Japan
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