Table 3.
XP-D Patient Findings
| Patient | Age at Test Date | Sex | Neuropathy | Audiology | MRI/CT Imaging | IQ Testing | DTR | |||
|---|---|---|---|---|---|---|---|---|---|---|
| ID # (Protocol designated ID) | Abn SNC | Abn MNC | SNHL | Cerebral Atrophy | Cerebellar Atrophy | Hypo- myelination | IQ < 80 | Absent | ||
| XPD1 (XP29BE)a-c | 22 | M | + | – | Mod | 3 | 2 | – | + | + |
| XPD2 (XP528BE) | 19 | M | + | – | Mild | 1 | 0 | – | + | + |
| XPD3 (XP32BE) | 42 | M | + | – | Mild | 2 | 1 | ND | ND | + |
| XPD4 (XP33BE)a | 31 | F | + | – | Mod | 2 | 1 | – | + | + |
| XPD5 (XP400BE) | 17 | M | + | – | Mild | 1 | 0 | – | + | + |
| XPD6 (XP116BE) | 5 | F | – | – | Normal | 0 | 0 | – | – | + |
| XPD7 (XP82BE) | 11 | F | – | – | Normal | 0 | 0 | – | – | ND |
| XPD8 (XP30BR-D) | 13 | M | – | – | Normal | 0 | 0 | – | – | ND |
| XPD9 (XP341BE) | 3 | M | – | – | Normal | 0 | 0 | – | + | _ |
| XPD10 (XP416BE) | 13 | F | – | – | Normal | 0 | 0 | – | + | – |
Abbreviations: XPD Xeroderma pigmentosum – D, F Female, M Male, Abn Abnormal, SNC Sensory nerve conduction studies, MNC Motor nerve conduction studies (fibular nerve), MRI Magnetic resonance imaging, CT Computed tomography, IQ Intelligence quotient, DTR Deep tendon reflexes, ND Not done, Mod Moderate
Footnotes: a Totonchy MB, et al. 2013 (Ref. [5]), b Ueda T, et al. 2009 (Ref. [14]), c Zhou X, et al. 2013 (Ref. [15])