Results

Sleep parameters for the five patients (four males, one female, mean age 45.6 ± 8.8 years) are presented in Table 1 and 2. Most importantly, results showed great interindividual variability. Mean total sleep time (TST) was globally reduced (296 ± 167 min), but mean sleep latency was within normal range (14.3 ± 10.6 min). Mean duration of the time spent awake from sleep onset to final awakening (WASO) was relatively high (84 ± 54 min) and median sleep efficacy was also reduced 63 ± 25%. Frequent awakenings resulted in sleep fragmentation but with a relative preservation of mean percentages of different sleep stages (mean percentage of slow wave sleep = 28 ± 25% of TST, and mean percentage of rapid eye movement (REM) sleep = 19 ± 12% of TST).

Table 1 Polysomnography features in five NA patients

Patient No. 1

Patient No. 2

Patient No. 3

Patient No. 4

Patient No. 5

Diagnosis

McLeod

CHAC

McLeod

CHAC

CHAC

Sex

M

M

M

M

F

Age

48

31

55

46

48

Total period time

499

542

488

342

341

(min)

Total sleep time

399

513

297

114

154

(min)

WASO (min)

96

18

126

39

142

No. of awakenings

52

10

59

15

6

Sleep efficiency (%)

80

95

61

33

46

Sleep latency (min)

5

11

24

5

27

Sleep stages (min) and (% of TST)

1

29

48

81

8

3

7

9

20

7

2

2

264

229

107

24

24

66

45

27

21

15

3+4

46

101

0

73

70

12

20

0

64

45

5

59

134

52

8

57

15

26

11

7

37

No. of sleep cycles

3

4

2

2

2

RBD (yes/no)

No

No

No

No

No

AI

20

2

-

-

-

PLMI

46

-

-

-

-

Excessive daytime somnolence in five NA patients

EDS (yes/no)

Yes

No

No

No

No

Epworth scale

16

6

-

-

-

MSLT (min)

5

-

-

-

-

Table 2 Patients' polysomnography sleep parameters

Diagnosis

Age

TST (min)

SL (min)

Stage 1 (% TST)

Stage 2 (% TST)

Stages 3 and 4 (% TST)

sleep (% TST)

WASO (min)

SE (%)

McLeod

48

399

4.5

7

66

12

15

96

80

ChAc

31

513

11

9

45

20

26

18

95

McLeod

55

296

24

37

52

0

11

126

61

ChAc

46

114

5

7

21

64

7

39

33

ChAc

48

154

27

2

16

45

37

142

46

TST total sleep time, SL sleep latency, REM sleep rapid eye movement sleep, WASO wake after sleep onset, SE sleep efficacy

TST total sleep time, SL sleep latency, REM sleep rapid eye movement sleep, WASO wake after sleep onset, SE sleep efficacy

Video monitoring in four patients revealed reduction but not complete cessation of abnormal movements during sleep. These movements mostly occurred during sleep-wake transitions. REM behaviour disorder (RBD) was not observed in any of our patients.

Despite global reduced efficacy of night sleep in four out of the five patients, only one patient complained of excessive daytime somnolence (EDS). His Epworth sleepiness scale score was 16/24 and his multiple sleep latencies were less than 5 min which is indicative of severe daytime sleepiness. In this patient, PSG revealed a relatively mild obstructive sleep apnoea syndrome (OSAS) (mean apnoea/hypopnoea index = 20) and severe periodic limb movement syndrome (mean PLM index = 46).

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