Table 1.

Clinical features, treatment, and outcome

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8
Age at onset/ sex	59/M	53/M	52/M	69/F	59/F	58/F	76/F	65/F
Presentation	Sleep disorder	Sleep disorder	Sleep disorder	Sleep disorder	Gait instability	Gait instability	Gait instability	Gait instability
Disease duration	4 years	6 years	5 years	2 years	12 years	7 years	6 months	2 months
Abnormal sleep behaviors	Yes^a	Yes^a	Yes^a	Yes^b	Yes^a	Yes^b	Yes^a	Yes^b
Sleep apnea	Yes^a	Yes^a	Yes^a	Yes^b	Yes^a	Yes^b	Yes^a	Yes^b
Stridor	Yes^a	Yes^a	Yes^a	Unknown	Yes^a	Yes^b	Yes^a	Unknown
Excessive day sleepiness	Episodic but intense	Mild	Episodic but intense	Moderate	Mild	No	No	No
Cognitive deterioration	No (MMSE: 28)	No (MMSE:30)	No (MMSE:29)	Yes (MMSE:21)	Yes^c (MMSE: ND)	No (MMSE:28)	No (MMSE: ND)	No (MMSE: ND)
Neuropsychological testing (years from onset of disorder)	Yes (3)^d	Yes (5)^d	Yes (4)^d	Yes (1)^e	Yes (10)^f	Yes (5)^g	ND	ND
Gait instability	No	No	Mild	No	Severe	Severe	Severe	Severe
Parkinsonism	No	No	No	No	No	No	No	No
Chorea	No	No	Yes	Yes	Yes	Yes	No	No
Limb ataxia	No	No	No	No	Yes	Yes	No	Yes
Abnormal ocular movements	No	No	No	Limitation of vertical gaze	Bilateral horizontal gaze paresis	Vertical and horizontal nystagmus,	Saccadic intrusions on pursuit	Bilateral horizontal nystagmus
Bulbar symptoms	Mild dysphagia, vocal cord paresis	Mild dysphagia	Vocal cord paresis, mild dysarthria and dysphagia	Dysarthria, central hypoventilation	Dysphagia, dysarthria	Dysphagia, dysarthria, central hypoventilation	Dysphagia, dysarthria, vocal cord paresis, central hypoventilation	Dysphagia, dysarthria, mandibular spasms, central hypoventilation
Dysautonomia	Hypersalivation and episodes of intense perspiration	Enuresis	Urinary urgency and hesitance	Syncopes and bradyarrhythmia	Urinary urgency and incontinency	Hypersalivation	No	Episodes of intense perspiration and drooling
Treatment	3 cycles of iv steroids and Cy, 1 of iv Ig	3 cycles of iv steroids, and Cy	3 cycles of iv steroids, and Cy	1 cycle of iv steroids	1 cycle of iv plus oral steroids and rituximab	3 cycles of iv Ig	3 cycles of iv + oral steroids, 2 cycles of Cy	1 cycle of iv Ig, steroids and rituximab
Outcome	No change	No change. Sudden death at home while asleep	No change	No change. Sudden death at home	No change. Sudden death during wakefulness	No change. Died in the ICU	No change. Sudden death at home while asleep	Improved. Discharged from the ICU. Sudden death during wakefulness

confirmed by centrally reviewed video-PSG

confirmed by PSG not centrally reviewed

cognitive deterioration started 10 years after onset of the disorder

neuropsychological evaluation (Auditory verbal learning test, Boston naming test, digit span, trail making A and B, Poppelreuter test, FAS word fluency test, and semantic fluency test) was normal (patient 1) or showed minor impairment of verbal episodic memory, decreased attention span, and deficit in visuospatial functions (patients 2 and 3)

neuropsychological evaluation (information on type of tests was not available) disclosed cognitive deterioration

the neuropsychological evaluation (block span test, digit span test, word pairs memory test, color word test, trail making test A + B, Colored progressive matrices (A/B), Regensburg word fluency test) disclosed impairment in non-verbal episodic memory, slowed cognitive speed and reduced selective attention

neuropsychological evaluation (ADAS test, Boston naming test, digit span, trail making A and B, Stroop test, Brixton test, Raven test, word fluency test, Buschke memory test) was normal.

Cy: cyclophosphamide; Ig: immunoglobulins; ICU: intensive care unit; iv: intravenous; MMSE: Mini-mental state examination; ND: Not done.