Table 1 Neurological abnormalities in XP-CS patients
Clinical feature | #/total (%) |
|---|---|
Intellectual disability | 38/38 (100) |
Progressive neurological problems | 26/26 (100) |
Ataxia, any form (sometimes unspecified) | 15/15 (100) |
Microcephaly | 30/32 (94) |
Abnormalities of myelination (CNS) | 14/15 (93) |
Brain atrophy or ventriculomegaly | 19/21 (90) |
Hearing loss (sensorineural) | 18/21 (86) |
Slowed nerve conduction velocity | 12/14 (86) |
Seizures | 8/11 (73) |
Brain calcifications | 10/16 (63) |
Lost or reduced deep tendon reflexes | 3/11 (27) |