Table 1.
motor | sensory | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Pt. No. |
Age | Gen der |
Onset | Initial sympto ms steppage gait |
UL | LL | Reflex | Claw hands |
Pes cavus/ varus |
pain / Touch |
Deep sense |
NFL family NF-L Pro22Ser | |||||||||||
III-6 | 70 | F | 0 - 10 | + | + | + | Absent Ankle |
+ | + | + | + |
III-16 | 63 | F | 10 - 20 | + | + | + | A | + | + | − | + |
III-18 | 57 | F | 0 - 10 | + | + | + | A | + | + | + | + |
IV-1 | 48 | F | 0 - 10 | + | + | + | Absent Ankle |
+ | + | + | + |
IV-4 | 51 | M | 0 - 10 | + | + | + | A | + | + | + | + |
IV-11 | 42 | F | 0 - 10 | + | − | + | Absent Ankle |
− | − | + | + |
IV-13 | 33 | F | 0 - 10 | + | + | + | Absent Ankle |
+ | − | + | + |
V-1 | 23 | M | not done | not done | − | + | facilitation | − | + | − | − |
V-2 | 25 | F | 0 - 10 | + | − | + | facilitation | − | + | − | + |
NFL+AN family NF-L Glu397Lys | |||||||||||
III-1 | 51 | M | 10 - 20 | + | + | + | A | + | + | + | + |
III-4 | 56 | M | 10 - 20 | + | − | + | A | − | + | + | + |
IV-1 | 19 | M | 10 - 20 | + | + | + | A | − | + | + | + |
IV-2 | 26 | M | 10 - 20 | + | + | + | A | − | + | + | + |
IV-3 | 37 | F | 10 - 20 | + | + | + | A | − | − | + | − |
IV-4 | 29 | F | 20 - 30 | pain in the legs |
− | + | Absent Ankle |
− | + | − | + |
IV-5 | 25 | M | 10 - 20 | + | − | + | A | − | + | + | + |
V-1 | 17 | F | 10 - 20 | + | − | + | Absent Ankle |
− | + | − | + |
F = female; M = male; A = absent all reflexes; + = present; − = absent