Table 2.
Clinical and diagnostic characteristics of two SEPT9 variant carriers (II.3 and III.4) compared to an unaffected family member (II.2)
| Subject | Sex | Genetics | Clinical features | Nerve conduction studies | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide Change | Age at Onset | Symptom at Onset | Amyotrophy | Weakness | Sensory loss | DTR | Ulnar nerve | Peroneal nerve | Sural nerve | |||||||
| (y) | UL/LL | UL/LL | UL/LL | UL/LL | CMAP | DL/MNCV | SNAP | SCV | CMAP | DL/MNCV | SNAP | SCV | ||||
| II.3† | F |
SEPT9, c.1406 T > C |
40# | ataxia, hyp-aesthesia | ++/++ | +/+ | +/+ | 1/0 | 5.3 | 4.6/37 | NR | 31 | 1.3 | 7.2/30 | NR | NR |
| III.2 | M | – | N/A | N/A | −/− | −/− | −/− | 2/2 | 8.9 | 2.9/62 | 17.8 | 50 | 10.1 | 3.8/50 | 17.8 | 47 |
| III.4 | M |
SEPT9, c.1406 T > C |
20# | ataxia, hyp-aesthesia | ++/++ | −/− | −/+ | 1/1 | 6.0 | 5.2/21 | NR | 27 | NR | NR | NR | NR |
Index case (†), M male, F female, LL lower limbs, UL upper limbs; amyotrophy (none, −; slight, +; moderate, ++; severe, +++); weakness (none, −; slight, +; moderate, ++; severe, +++); DTR, deep tendon reflexes, (areflexia 0, hyporeflexia 1, normal 2), NA not applicable. (#) approximately, Age at onset in years (y) CMAP compound muscle action potential [mV], SNAP sensory nerve action potential [μV], DL distal latency [ms], MNCV motor nerve conduction velocity [m/s], SCV sensory conduction velocity [m/s], NR no response. – none. Chromosomal position (GRCh37/hg19) 17:75488782, Reference sequence used: NM_006640.4