Table 2.

Patients' personal data and investigations

Pt. No.	Age	Gen der	PTA R/L	Speech	Stap edial refle x R/L	DPOAE R&L	ABR	CV motor media n nerve m/sec	CV sensor y median nerve	MEP	Gap r/l
NFL family NF-L Pro22Ser
III-6	70	F	25/30			+	N	36	−		7/5
III-16	63	F	45/40			−	N	−	−		3/2
III-18	57	F	20/20			+	N	38	−		5/9
IV-1	48	F	30/40			−/+	N	41	−		3/5
IV-4	51	M	20/20			−	N	41	−		3/6
IV-11	42	F	12/10	N	+/+	+	N	39	−		3/4
IV-13	33	F	15/15			+	N	54	−		5/2
V-1	23	M	10/10			+	N	34	−		3/5
V-2	25	F				+	N	32	−		5/6
NFL+AN family NF-L Glu397Lys
III-1	51	M	13/3	N	−/−	+	−	46	−	A	6/5
III-4	56	M	18/31	A	−/−	+	−	42	−		184/17 6
IV-1	19	M	10/11	N	−/−	+	−	39	−	A	2/3
IV-2	26	M	10/10	N	+/−	+	A*	46	−	A	3/3
IV-3	37	F	11/11	A	−/−	+	A*	37	−		5/4
IV-4	29	F	10/10	N	−/−	+	A	46	−		5/6
IV-5	25	M	10/10	N	+/+	+	A*	51	−		5/3
V-1	17	F	10/10	N	+/+	+	A	34	−		3/5

F = female; M = male; A = abnormal; + = present; − = absent; blank = not done; A*= abnormal and central auditory pathway lesion; PTA= pure tone audiogram; DPOAE=distortion product otoacoustic emissions; ABR= auditory brainstem response; CV= conduction velocity; MEP= motor evoked potentials