Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Table 1 Clinical and genetic features of SPG5 patients

No	Family	Gender	Mutation cDNA	Consanguineous family/family history	Age at onset(y)	Age at enrollment(y)	Disease duration (y)	SPRS†	Disability score‡
1	F1-II-2	Female	c.259 + 2T > C c.1190C > T	No/No	3	27	24	38	6
2	F2-II-1	Male	c. 334C > T hom	No/No	12	21	9	15	3
3	F3-II-1	Female	c. 334C > T hom	No/No	27	41	14	14	3
4	F4-II-2	Male	c. 334C > T hom	No/No	10	30	20	21	5
5	F5-II-1	Female	c. 334C > T hom	No/No	17	31	14	24	5
6	F6-IV-1	Male	c. 334C > T hom	Yes/No	12	26	14	13	3
7	F7-II-3	Male	c. 334C > T hom	No/No	4	14	10	25	5
8	F8-II-1	Male	c. 334C > T hom	No/No	1	17	16	15	3
9	F9-IV-2	Male	c. 334C > T hom	Yes/Yes	11	34	23	4	2
10	F10-II-3	Male	c. 334C > T hom	No/No	26	42	16	19	4
11	F11-IV-3	Male	c. 334C > T hom	Yes/Yes	8	45	37	26	4
12	F14-II-1	Male	c. 334C > T hom	No/No	11	17	6	11	3
13	F17-II-1	Female	c. 334C > T hom	No/No	10	18	8	14	3
14	F9-IV-1	Female	c. 334C > T hom	Yes/Yes	25	37	12	2	2
15	F11-IV-1	Male	c. 334C > T hom	Yes/Yes	9	49	40	22	5
16	F18-III-1	Male	c. 334C > T hom	No/Yes	5	13	8	8	3
17	F18-II-7	Female	c. 334C > T hom	No/Yes	18	38	20	6	3

No	Harding classification	MMSE	Dorsal column dysfunction	Urinary symptoms	Cerebellar ataxia	Other symptoms
1	Pure	24	Yes	No	No	No
2	Pure	27	Yes	No	No	No
3	Pure	30	Yes	No	No	No
4	Pure	29	Yes	No	No	No
5	Pure	29	Yes	No	No	No
6	Complex	29	Yes	No	No	Epilepsy
7	Pure	29	Yes	No	No	No
8	Pure	29	Yes	No	No	No
9	Pure	29	Yes	No	No	No
10	Pure	28	Yes	Yes	No	No
11	Pure	29	Yes	No	No	No
12	Pure	29	Yes	No	No	No
13	Pure	29	Yes	No	No	No
14	Pure	28	Yes	No	No	No
15	Pure	29	Yes	No	No	No
16	Pure	27	Yes	No	No	No
17	Pure	28	Yes	No	No	No

SPG5, spastic paraplegias type 5; MMSE, mini-mental state examination
^†Spastic Paraplegia Rating Scale (SPRS), range from zero (no disease manifestation) to a maximum of 52 points (most severe disease manifestation)
^‡Disability score (0 = no functional handicap, 1 = no functional handicap but signs at examination; 2 = mild, able to run, walking unlimited; 3 = moderate, unable to run, limited walking without aid; 4 = severe, walking with one stick; 5 = walking with two sticks; 6 = unable to walk, requiring wheelchair; 7 = confined to bed)

ISSN: 1750-1172