Table 1C.
Clinical and electrophysiological features from 14 IPN index patients with hereditary sensory and autonomic neuropathy (HSAN), distal hereditary motor neuropathy (dHMN) and intermediate CMT, for whom a candidate variant was identified
| Patient | Disease | Gene | Gender | Age at onset | Deep tendon reflexes | Foot deformities | Muscular weakness and wasting of distal muscles | Sensory loss | Other clinical signs | Median nerve motor MNCV (m/s) | Median nerve distal CMAP (mV) | Median nerve sensitive (m/s) | Nerve biopsy |
| 6 | dHMN AD | TRPV4 | M | 2 years | + | + | + | − | Scoliosis | Normal | NA | NA | – |
| 30 | dHMN AR | SPG11 | M | 19 years | − | NA | + | − | NA | NA | NA | NA | |
| 39 | dHMN AD | REEP1 | F | 33 years | + | + | + | − | Dysphagia | NA | NA | NA | NA |
| 55 | dHMN SPO | DYNC1H1 | F | 12 years | NA | − | + | − | NA | NA | NA | NA | |
| 57 | dHMN SPO | MYH14 | M | 50 years | − | + | + | − | Scoliosis | 67 | NA | NA | – |
| 13 | HSAN AD | SPTLC2 HSPB3 | M | 24 years | − | + | + | + | NA | NA | NA | – | |
| 25 | HSAN AD | NEFL | F | 20 years | − | − | − | + | 46 | 9.79 | 38 | – | |
| 48 | HSAN AR | FAM134B | F | 12 years | − | + | + | + | Ulcero-mutilating neuropathy | NA | NA | NA | NA |
| 49 | HSAN AD | HSPB1 | M | 49 years | NA | − | − | + | Sensorineural hearing loss | 49 | 9.2 | 31 | – |
| 56 | HSAN AD | SPTLC2 MYH14 | M | 10 years | NA | − | − | + | Neurological pain | NA | NA | NA | NA |
| 36 | CMT inter AD | DNM2 | M | 41 years | − | + | NA | NA | 54 | 3.6 | NA | Fibre loss | |
| 40 | CMT inter AD | KIF5A | F | 53 years | + | + | + | − | 48,9 | NA | NA | – | |
| 50 | CMT inter AD | YARS | M | 14 years | + | + | + | + | 34 | 2.2 | NA | Axonal loss | |
| 52 | CMT inter AD | INF2 | F | NR | NA | NA | NA | NA | NA | NA | NA | NA |
+, presence; −, absence; AD, autosomal dominant; AR, autosomal recessive; CMAP, compound muscle action potential; CMT, Charcot-Marie-Tooth disease; F, female; M, male; MNCV, motor nerve conduction velocity; NA, not available; SPO, sporadic.