Table 1.
Clinical and Paraclinical Features of 22 SPG15 Patients
| Family/Patient | Sex/Age at onset (yrs) | Disease Duration (yrs) | Functional Handicap (Scale) | LL/UL Reflexes | Cognition |
Cerebellar Signs | Visual Function | Other Signs | ENMG | Brain MRI | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Mental Retardation | Cognitive Deterioration | ||||||||||
| 16/161 | M/12 | 20 | Severe (6/7) | Brisk/Brisk | + (Moderate) | No | No | Normal | Pes cavus, pseudo bulbar dysarthria, severe UL and LL amyotrophy | Axonal PNP | Normal |
| 30/274 | F/11 | 17 | Severe (6/7) | Very brisk/Brisk | + (Moderate) | No | No | Normal | Pes cavus, scoliosis, pseudo bulbar dysarthria, moderate LL amyotrophy | Axonal PNP | Normal |
| 30/275 | F/8 | 19 | Severe (5/7) | Very brisk/Brisk | + (Moderate) | No | No | Normal | Severe LL amyotrophy | ND | ND |
| 30/279 | F/8 | 1 | Mild (2/7) | Very brisk/Normal | + (Mild) | No | No | Normal | None | ND | Normal |
| 761/3 | M/12 | 26 | Severe (6/7) | Very brisk/Very brisk | No | + (Severe) | + | Reduced visual acuity | Pseudo bulbar dysarthria; oral and hand dystonia- Sensorineural hearing deficit | Axonal PNP | TCC, WMA, marked cortical atrophy, mild cerebellar atrophy |
| 761/5 | F/12 | 22 | Severe (6/7) | Very brisk/Normal | No | + (Mild) | + | Normal | Pseudo bulbar dysarthria. Sensorineural hearing deficit | Axonal PNP | TCC, cortical and cerebellar atrophy |
| 761/9 | M/9 | 12 | Severe(5/7) | Very brisk/Brisk | No | + (Mild-Moderate) | No | Pigmentary retinopathy | Pseudo bulbar dysarthria and nystagmus Sensorineural hearing deficit | Axonal PNP | TCC and WMA |
| 761/10 | M/5 | 12 | Moderate (4/7) | Very brisk/Normal | + | No | No | Normal | Pseudo bulbar dysarthria | Normal | TCC |
| 17/168 | F/14 | 6 | Moderate (3/7) | Brisk/Normal | No | No | No | Normal | Pes cavus | ND | TCC, cortical and mild cerebellar atrophy |
| 1007/3 | F/13 | 20 | Severe (6/7) | Brisk/Brisk | + | + | + | Macular pigmentation | Epilepsy, distal amyotrophy, bladder dysfunction | Normal | Diffuse cerebral atrophy |
| 1007/4 | M/14 | 18 | Severe (6/7) | Brisk/Brisk | + | + | + | Macular pigmentation | Bladder dysfunction, pseudo bulbar dysarthria, distal amyotrophy, | Normal | ND |
| 1007/5 | M/16 | 14 | Severe (6/7) | Brisk/Brisk | + | + | + | Normal | Focal dystonia, distal amyotrophy, bladder dysfonction | Normal | ND |
| 353/3 | F/12 | 20 | Severe (6/7) | Brisk/Brisk | No | + | + | Normal | Decreased vibration sense, distal amyotrophy, pes cavus, bladder dysfunction | Axonal PNP | ND |
| 353/4 | M/10 | 20 | Severe (6/7) | Brisk/Brisk | No | No | + | Normal | Decreased vibration sense, distal amyotrophy, pes cavus | ND | ND |
| 353/6 | F/10 | 15 | Moderate (4/7) | Brisk/Normal | No | No | No | Normal | Decreased vibration sense | ND | ND |
| 353/10 | M/10 | 6 | Moderate (3/7) | Brisk/Normal | No | No | + | Normal | Pes cavus, | Axonal PNP | ND |
| 444/7 | F/12 | 15 | Severe (7/7) | Brisk/Brisk | No | + | + | ND | Decreased vibration sense | ND | ND |
| 444/6 | M/12 | 15 | Severe (5/7) | Brisk/Brisk | No | No | + | ND | Decreased vibration sense | ND | ND |
| 444/9 | F/16 | 2 | Moderate (3/7) | Brisk/Brisk | No | No | No | ND | Pes cavus, | ND | ND |
| 671/10 | F/<10 | >13 | Moderate (4/7) | Very brisk/Brisk | No | + | No | Normal | Decreased vibration sense, distal amyotrophy, bladder dysfunction | ND | ND |
| 671/4 | F/18 | 6 | Moderate (4/7) | Very brisk/Brisk | No | + | No | Normal | Raynaud phenomenon, high-arched palate, wide interdental spaces, distal amyotrophy, bladder dysfunction | Axonal PNP | TCC, WMA, mild cortical atrophy |
| 671/5 | F/19 | 4 | Moderate (3/7) | Brisk/Brisk | No | + | No | Normal | Hands extrapyramidal rigidity, mild hand tremor, decreased vibration sense, distal amyotrophy, | ND | TCC, WMA |