Table 1.
Comparison of Clinical Details for Patients II.3 and II.1 With Other Cases in the Literature With Predominant Spastic Paraparesis Phenotype
| Verdura et al.5 | This study | |||
| Patient 9 | Patient 10 | II.3 | II.1 | |
| Sex | Male | Male | Female | Female |
| Ethnicity | European | Latin American | European | European |
| Age at onset | 17 y | 2 y | 12 y | Late teenage years |
| Age at last examination | 40 y | 18 y | 51 y | 56 y |
| Variant | c.5459_5461delAAG c.6156_6159delGACA |
c.4666G>A c.5159C>T |
c.3883C>A c.5785A>C |
c.3883C>A c.5785A>C |
| p.(Glu1820del) p.(Thr2053SerfsTer4) |
p.(Val1556Met) p.(Thr1720Ile) |
p.(His1295Asn) p.(Thr1929Pro) |
p.(His1295Asn) p.(Thr1929Pro) |
|
| Spasticity | ✓ | ✓ | ✓ | ✓ |
| Ataxia | — | — | — | ✓ Mild, upper limb |
| Upgoing plantar response | + Bilateral |
N/A | + Bilateral |
+ Bilateral |
| Epilepsy | — | — | — | — |
| Gross motor development | No delay | Delayed | No delay | No delay |
| Intellectual disability | Normal | Mild | Normal | Normal |
| Polymicrogyria | — | — | — | — |
| Cerebellar and/or brainstem abnormalities | Arachnoid cyst of posterior fossa | — | — | — |
| Leukodystrophy | — | — | — | — |
| Spinal cord abnormalities | Cervical spinal cord atrophy | Cervical spinal cord atrophy | Diffuse cervical spinal cord atrophy | L3 nerve root impingement |
| Other clinical information | Moderate mid-lumbar scoliosis | |||
Abbreviation: N/A = not available.