Molecular epidemiology of hereditary ataxia in Finland

BMC Neurology

Table 2 Clinical findings in Finnish patients with genetically confirmed ataxic disorders

ID	Sex	AOO	AAE	Gene	CI	DM	E	HI	VI	PNP	Tonus	EyeM	Dysph	Dysar	KPS [18]
1	F	NA	NA	ATXN8/OS	-	-	-	-	-	-	NA	NA	NA	NA	NA
2	F	50	76	ATXN8/OS	-	-	-	+	-	-	N	N	+	-	80
3	F	57	72	ATXN8/OS	-	-	-	-	-	-	N	N	-	+	80
4	F	36	64	ATXN8/OS	-	-	-	-	-	-	N	N	+	+	70
5	F	35	36	ATXN8/OS	-	-	-	-	-	-	N	I	-	+	80
6	F	33	36	ATXN8/OS	-	-	-	-	-	-	N	N	+	+	80
7	M	40	64	ATXN8/OS	+	+	-	-	+	+	NA	NA	+	+	80
8	F	32	55	POLG	-	-	+	-	-	+	N	I	-	+	20
9	M	45	59	POLG	+	-	-	+	-	+	N	N	-	-	70
10	M	24	45	POLG	-	-	+	-	+	+	N	I	+	+	60
11	M	50	58	POLG	-	-	-	-	-	-	N	NA	-	+	80
12	F	30	43	POLG	-	-	-	-	-	+	N	I	-	-	80
13	F	40	42	POLG	+	+	-	-	+	+	N	I	+	+	80
14	F	40	72	RFC1	+	-	+	-	-	+	N	I	+	+	40
15	M	45	57	RFC1	-	-	-	-	-	+	N	I	-	+	60
16	F	52	64	RFC1	-	-	-	-	+	+	N	I	-	+	70
17	F	64	74	RFC1	-	+	-	-	-	+	N	I	+	+	50
18	M	48	71	RFC1	-	-	-	-	-	+	N	I	-	-	90
19	F	20	58	SACS	-	-	-	-	-	+	S, R	I	-	+	50
20	M	10	65	SACS	-	-	-	-	-	+	S	I	-	+	40
21	M	7	63	SACS	-	-	-	-	-	+	S	I	-	+	40
22	M	1	NA	CACNA1A	-	-	-	-	+	-	N	I	-	+	NA
23	M	10	44	CACNA1A	-	-	-	-	-	-	N	N	-	-	90
24	F	11	20	CACNA1A	-	-	-	-	-	-	N	N	-	-	90
25	F	5	37	FXN	-	+	-	-	-	+	S	I	-	+	50
26	F	22	29	FXN	-	-	-	-	-	+	S	I	-	-	80
27	M	20	64	MT-ATP6/8	-	+	-	+	-	+	N	N	+	+	60
28	F	20	59	MT-ATP6/8	-	+	-	-	-	-	N	N	-	+	60
29	F	32	38	SAMD9L	+	-	-	-	-	-	N	I	+	-	80
30	M	70	85	ATM	+	-	-	-	-	-	N	I	+	+	50
31	M	57	63	FMRI	+	-	-	-	-	-	N	N	+	+	80
32	F	2	28	RARS2	+	-	+	-	-	-	N	I	+	-	70
33	M	4	26	mtDNA del	+	+	-	+	+	-	N	I	-	-	40

AAE age at examination, AOO age of onset, CI cognitive impairment, del deletion, DM diabetes mellitus, Dysar dysarthria, dysph dysphagia, E epilepsy, EyeM eye movements, HI hearing impairment, I impaired eye movements include double vision, impaired saccades, impaired smooth pursuit or nystagmus, KPS Karnofsky performance score, N normal, NA not analyzed, PNP polyneuropathy, R rigidity, S spasticity, VI visual impairment

ISSN: 1471-2377