Table 1

The clinical features of the patients with NIID

Variables	Case number
Variables	P1	P2	P3	P4	P5	P6	P7	P8¹*	P9²*	P10³*	P11^4*	P12^4*	P13^5*	P14^5*	P15^5*
Age/sex (years)	61/m	68/m	36/f	52/m	69/m	16/m	66/f	65/f	59/f	69/f	54/f	53/m	65/m	66/f	69/m
Disease duration	9 years	2 years	3 years	18 years	20 years	8 months	17 years	9 months	8 months	4 years	2 years	6 months	29 years	6 years	22 years
Clinical features
Cognitive impairment (93.3%)	+	–	+	+	+	+	+	+	+	+	+	+	+	+	+
Episodic encephalopathy (66.7%)	+	–	–	+	+	+	–	–	–	+	+	+	+	+	+
Bladder dysfunction (60.0%)	+	+	–	–	+	+	+	+	–	+	–	–	+	+	–
Abnormal behaviour (53.3%)	+	+	–	+	+	+	–	–	–	+	+	–	+	–	–
Convulsion (53.3%)	–	–	–	+	+	+	+	–	–	+	+	–	+	+	–
Muscle weakness (53.3%)	+	–	–	–	+	+	+	–	–	+	+	+	+	–	–
Sensory disturbance (46.7%)	+	–	–	+	+	–	+	–	–	+	–	+	+	–	–
Dysarthria (46.7%)	–	–	–	+	+	+	–	–	+	+	–	–	+	+	–
Visual abnormality (53.3%)	–	–	+	+	+	+	+	–	+	+	–	–	–	–	+
Miosis (40.0%)	+	+	–	+	+	–	–	–	–	+	–	–	+	–	–
Tremor (40.0%)	–	+	–	–	+	–	+	–	–	+	–	–	–	+	+
Rigidity (40.0%)	–	–	–	–	+	+	+	–	–	+	–	–	–	+	+
Ataxia (33.3%)	–	–	–	+	+	–	–	–	+	+	–	–	–	+	–
Hypertension (86.7%)	+	+	+	+	+	–	+	+	–	+	+	+	+	+	+
MMSE	12	26	10	15	16	9	27	24	21	5	20	21	21	22	21
FAB (age match average)	6	17	9	12	ND	3	ND	15	14	4	ND	ND	ND	ND	ND
CSF protein (mg/dL)	125	115	55	106	73	135	ND	81	89	58	ND	ND	ND	ND	ND

*Number indicating family history and family number.
CSF, cerebrospinal fluid; FAB, Frontal Assessment Battery; MMSE, Mini-Mental State Examination; ND, not done; NIID, neuronal intranuclear inclusion disease.