Table 1. Patient characteristics and phenotypic stratification.

A) The demographics of the patient population screened for the seven genes in this study is shown. F, female; SD, standard deviation; y, year. B) The phenotypic categorization of the patient population screened is shown for each individual gene. Features guiding patient selection for a particular genetic test were selected to maximize discovery based on published clinical presentations (see text). Note that patients are listed only by a single phenotypic descriptor although individuals with overlapping features were included in multiple test categories.

A.
Gene	N	Age (y)	SD (y)	Sex (%F)
LMNB1	40	46.1	15.8	55.0
PDYN	119	52.8	15.4	51.7
SACS	39	46.5	16.0	56.4
SCA31	101	56.0	14.2	53.5
SETX	11	43.1	18.0	66.7
SYNE1	80	53.3	15.2	58.8
TGM6	118	52.6	15.4	51.3

B.	Gene
Phenotype	LMNB1	PDYN	SACS	SCA31	SETX	SYNE1	TGM6
Pure cerebellar	2	12	2	48	0	51	12
Spastic ataxia	29	30	28	0	0	17	30
Spastic paraplegia	6	8	7	0	0	3	8
Spinocerebellar ataxia	1	69	1	53	11	4	68
Episodic ataxia	0	0	0	0	0	5	0
Leukodystrophy	2	0	1	0	0	0	0
Total	40	119	39	101	11	80	118