Table 3.

Imaging and Testing Documented as Obtained Prior to Referral to Subspecialist

Laboratory studies, N (%)
Complete blood count	45 (47.4%)
Vitamin B12	45 (47.4%)
Serum electrolytes	41 (43.2%)
Renal function	40 (42.1%)
Thyroid stimulating hormone	39 (41.1%)
Liver function	36 (37.9%)
Anti-nuclear antibodies	34 (35.8%)
Erythrocyte sedimentation rate	34 (35.8%)
Vitamin E	28 (29.5%)
Rapid plasma reagin/fluorescent treponemal antibody	24 (25.3%)
Folate	23 (24.2%)
Hemoglobin A1C	15 (15.8%)
Homocysteine	13 (13.7%)
Methylmalonic acid	13 (13.7%)
All of these laboratory studies	0 (0%)
None of these laboratory studies	27 (28.4%)
Imaging studies, N (%)
Brain MRI	87 (91.6%)
Spine MRI	49 (51.6%)
CT scan of chest/abdomen/pelvis	12 (12.6%)
All of these imaging studies	8 (8.4%)
None of these imaging studies	0 (0%)
Genetic testing, N (%)
Any prior genetic testing	39 (41.1%)
Mixed dominant and recessive multi-gene testing	17 (17.9%)
Dominant multi-gene testing	9 (9.5%)
Individual gene testing	13 (13.7%)
Early use of genetic testing prior to referral, N (%)
No definite or possible family history of ataxia, a full laboratory workup for acquired causes was not obtained, and genetic testing had been obtained	27 (28.4%)
Definite or possible family history of an unknown ataxia, none of the 14 laboratory tests had been obtained, and genetic testing had been obtained	3 (3.2%)