Elevation of Serum Creatine Kinase sCK

All ChAc cases except for Case 1 showed elevation of sCK of variable degrees, typically reaching at least 2- to 3-fold higher than the normal upper limit (Table 1). sCK elevation was thought to be derived from secondary degeneration of skeletal muscle tissue and/or violent choreiform movements of the limbs [25]. However, marked elevation of sCK was noted in Case 12 who did not have neurogenic changes on electrophysiological or conventional pathological studies, in Case 8 without muscular atrophy, and in Case 7, who presented with akinesia, without involuntary movements.

Table 1 Summary of the clinical features of ChAc cases

Postural

instability/

Muscle

decreased

weak

Serum CK

Age at

postural

ness/

Anatomical distribution of

Deep tendon

(Cupper

Author

Case No.

onset

reflexes

Involuntary movements

atrophy

muscle weakness/atrophy

reflexes

limits) IU/1

Tanaka et al. [28]

1

23

+

Vocal, facial, limb, and truncal tics, chorea

+

Distal limbs

Hypoactive

WNL

2

37

+

Vocal tics, chorea

-

-

Hypoactive

2369

3

33

+

Orofacial dyskinesia. Chorea

+

Limbs

Hypoactive or absent

307

Sorrentino G et al.

4

20

+

Orofaciolingual dyskinesia.

+

All limbs (especially in

Absent

2355

[19, 26]

chorea

interossei muscles)

Wihl G et al. [31]

5

17

+

Dystonia, chorea, phonic tics

+

Lower limbs

Absent

334 (<80)

Burbaud P et al. [3]

6

31

ND

Chorea

ND

ND

ND

ND

Bohlega S et al. [2]

7

30

ND

Oral dyskinesia, facial tics, chorea

ND

ND

Hyperactive

3360(<195)

8

20

ND

Dystonia, chorea

ND

ND

Hyperactive

224 (<195)

9

20

ND

-

ND

ND

ND

1393 (<195)

10

26

+

Dystonia, chorea

+

Masseters, deltoids, other shoulder girdle muscles

Hyperactive

7175 (<195)

11

30

ND

Orofacial dyskinesia, chorea

+

Temporalis, distal limbs

Absent

388 (<195)

Saiki S et al. [23,24]

12

35

-

Chorea

+

Distal lower limbs

Hypoactive

851 (<212)

13

25

+

Chorea, tourettism

+

Lower limbs

Hypoactive

1179 (<212)

14

29

+

Orolingual dyskinesia, chorea

+

Lower limbs

Hypoactive

1517 (<212)

Tamura Y et al. [27]

15

32

+

Chorea, vocal tics

-

-

Hypoactive or absent

975 (<200)

(mean)

ND

Orofacial dyskinesia, chorea, dystonia

71% of cases

ND

ND

Increased

Abbreviations'. CK creatine kinase, ChAc chorea-acanthocytosis, ND not described, NE not examined, WNL within normal limits

Abbreviations'. CK creatine kinase, ChAc chorea-acanthocytosis, ND not described, NE not examined, WNL within normal limits

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