Table 3.
Cases With Nondiagnostic Results Following Exome Sequencing
| Patient No./Sex/Age, y | Family History | Primary Symptom | Phenotype |
|---|---|---|---|
| ATX2/M/54 | Sporadic | Ataxia | PCA |
| ATX3/F/77 | Sporadic | Ataxia | PN |
| ATX4/M/59 | Sporadic | Ataxia | UMN |
| ATX7/F/24 | Sporadic | Ataxia | ID, PN, PSY, WMA |
| ATX11/F/41 | Affected brother | Ataxia | UMN |
| ATX14/F/60 | Sporadic | Ataxia | WMA |
| ATX15/M/40 | Sporadic | Ataxia | EP, PN |
| ATX16/F/62 | Sporadic | Ataxia | UMN |
| ATX19/F/35 | Sporadic | Ataxia | EO |
| ATX20/F/46 | Sporadic | Ataxia | DEM, EP, UMN, WMA |
| ATX22/M/69 | Sporadic | Ataxia | PN |
| ATX23/F/39 | Sporadic | Spasticity | UMN |
| ATX25/M/52 | Sporadic | Spasticity | UMN |
| ATX28/F/61 | Sporadic | Ataxia | PSY |
| ATX31/M/72 | Sporadic | Ataxia | PN |
| ATX33/F/23 | Sporadic | Ataxia | EO |
| ATX40/F/73 | Multiple members with diverse symptoms | Ataxia | EP, WMA |
| ATX41/F/69 | Sporadic | Ataxia | WMA |
| ATX42/M/78 | Sporadic | Ataxia | PCA |
| ATX44/M/66 | Affected sister | Ataxia | PN |
| ATX45/F/78 | Affected brother | Ataxia | DEM, EP, WMA |
| ATX47/F/55 | Sporadic | Spasticity | PN |
| ATX49/F/51 | Sporadic | Ataxia | PCA |
| ATX50/F/65 | 2 Affected sisters | Ataxia | MHA |
| ATX51/F/70 | Sporadic | Parkinsonism | PCA |
| ATX53/F/73 | Affected mother | Ataxia | PN |
| ATX56/M/14 | Sporadic | Spasticity | EO |
| ATX57/F/23 | Sporadic | Ataxia | EO, ID, PSY |
| ATX65/F/57 | Affected mother, daughter | Spasticity | PN |
| ATX71/M/60 | Sporadic | Spasticity | PN, WMA |
Abbreviations: DEM, dementia; EO, early onset (≤ age 20 years); EP, extrapyramidal features; F, female; ID, intellectual disability; M, male; MHA, migraine headaches; PCA, pure cerebellar ataxia; PN, polyneuropathy; PSY, psychiatric symptoms; UMN, upper motor neuron features; WMA, white matter hyperintensities on brain magnetic resonance imaging.