TABLE 1.
Clinical features and mutation details of HSP patients with SPG7 and SPAST mutations.
| Participant ID | L-6709* | L-7632* | N22090010 | 610080001# | 610080002# | 610080006# |
| Gene | SPG7 | SPG7 | SPG7 | SPAST | SPAST | SPAST |
| Mutation(s) | c.1529C > T (het), c.1454_1462del (het) | c.1529C > T (het), c.1727C > G (het) | c.1529C > T (het), c.1449 + 1G > A (het) (novel) | c.1392A > T | c.583C > G | c.1096G > A |
| Patient ID | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 |
| Ethnic background | European | European | European | European | European | European |
| Phenotype | Complex | Complex | Complex | Complex | Pure | Pure |
| Family History | Sporadic | AR | AR | Sporadic | AD | AD |
| UL amyotrophy | No | No | No | No | No | No |
| UL spasticity | No | No | No | Moderate | No | No |
| UL weakness | No | No | No | Yes | No | No |
| UL reflexes | +++ | ++ | ++ | +++ | +++ | +++ |
| LL amyotrophy | No | No | No | No | No | No |
| LL spasticity | Moderate | Moderate | Severe | Severe | Mild | Moderate |
| LL weakness | Mild | No | Moderate | Severe | Mild | Moderate |
| LL reflexes | ++++ | ++++ | +++ | ++++ | +++ | +++ |
| Babinski | Yes | Yes | Yes | Yes | No | Yes |
| Sensory disturbance | Temp/Noci | No | No | Vibr/Temp/Noci | No | Vibr |
| Urinary disturbance | No | Yes, urgency | Yes, urinary incontinence | Yes, suprapubic catheter | No | Yes |
| Ophthalmoplegia | Yes, bilateral external ophthalmoplegia with limitation of upgaze | No | No | No | No | No |
| Ptosis | Yes, mild bilateral ptosis | No | No | No | No | No |
| Dysarthria | No | No | Yes | Yes | No | No |
| Cerebellar ataxia | No | Yes | Yes | No | No | No |
| Walking aids | Walking stick | No | Wheelchair | Wheelchair | No | Walking stick |
| Brain MRI | Normal | Normal | Cerebellar atrophy | Normal | N/A | N/A |
| Spinal MRI | Normal | Mild cervical spinal stenosis, with no improvement following cervical decompression. | N/A | Cervical spondylosis | N/A | N/A |
| NCS/EMG | Normal | Normal | N/A | Normal | N/A | N/A |
| MEP | Normal for the UL, absent for the lower limb | Normal for the UL, prolonged CMCT for the LL (27.65, N < 13) | Normal for the UL, prolonged CMCT for the LL (17.35, N < 13) | N/A | N/A | N/A |
| Muscle biopsy features of mitochondrial cytopathy | Not performed | Yes, increased COX-negative/SDH-positive fibers for the patient’s age | Not performed | Not performed | Not performed | Not performed |
UL, upper limb; LL, lower limb; M, male; F, female; Vibr/Prop/Temp/Noci impairment of vibration sense/proprioception/temperature sensation/nociception, CMCT ms central motor conduction time in milliseconds, N/A not available. Reflex grading: 0 absent, + reduced, ++ normal, +++ brisk without clonus, ++++ brisk with clonus. *Previously reported by Kumar et al. (2013). #Previously reported by Abrahamsen et al. (2013) and Vandebona et al. (2012).