Table 1

Clinical features of patients in seven families with MPZ mutations

Family		MPZ mutation		Age (y)/ sex		Onset age (y)	Initial symptom		Motor				Sensory		ADL	Adie's pupil	Deafness	CSF protein (mg/dl)	CK (IU/l)
Family		MPZ mutation		Age (y)/ sex		Onset age (y)	Initial symptom		UE	LE			pain/touch	deep sense	ADL	Adie's pupil	Deafness	CSF protein (mg/dl)	CK (IU/l)
1-II-1	Thr124Met	66/M	56	Hypaesthesia	1+	2+	3+	2+	1	0	0	32	ND
1-II-5	Thr124Met	60/F	50	Weakness	Normal	2+	1+	1+	1	+	0	ND	ND
1-II-7	Thr124Met	50/F	41	Weakness	1+	3+	2+	2+	2	+	+	ND	674
1-II-8	Thr124Met	47/M	37	Calf cramp	Normal	1+	2+	1+	1	+	+	87	362
2-II-2	Thr124Met	58/F	48	Hypaesthesia	Normal	1+	2+	2+	1	+	+	22	295
2-III-1	Thr124Met	33/F	ND	Photophobia	Normal	Normal	Normal	Normal	0	+	ND	ND	ND
2-III-2	Thr124Met	30/F	ND	Photophobia	Normal	Normal	Normal	Normal	0	+	ND	ND	ND
3-III-3	Thr124Met	82/M	60	Weakness	2+	3+	3+	3+	2	+	+	67	587
4-II-5	Thr124Met	82/F	40	Weakness	3+	3+	1+	1+	3	0	0	ND	131
4-III-6	Thr124Met	55/F	40	Paraesthesia	Normal	1+	1+	2+	1	0	0	ND	271
5-II-3	Asp75Val	74/F	60	Paraesthesia	2+	3+	2+	2+	3	+	+	ND	120
6-II-2	Asp75Val	66/F	61	Paraesthesia	Normal	3+	2+	2+	2	+	0	39	376
7-III-2	Asp75Val	64/F	61	Paraesthesia	Normal	1+	1+	1+	1	0	0	ND	ND

CK=Serum creatine kinase concentration, normal value 45-245 IU/l, 1+, 2+, and 3+=minimal, moderate, and severe involvement for muscle weakness and sensory deficit; 0=absent; +=present; ADL 0 to 5 was based on modified Rankin score (van Swieten et al. Stroke 1988; 19: 604–7). ND=not determined.