Table 2.
Genetic and clinical characteristics of patients with AARS-related neuropathy in the UK/Irish cohort
| Family/patient/age/sex | Origin | Nucleotide/amino acid change | Age onset | Clinical course | First sign | Clinical signs | Mobility/orthotics | Nerve conduction study | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Distal lower limb | Distal upper limb | Motor NCV (m/s) | Motor/sensory | |||||||||||
| Motor | Sensory | Deformity | Motor | Sensory | Deformity | |||||||||
| F1/PIII.1/50 years/M | UK | c.986G>A/p.Arg329His | 30 years | Rapid fluctuant Symmetric LL Asymmetric UL |
UL | ++ | ++ | Bilateral pes cavus
Bilateral foot drop |
++ | ++ | R>L mild split hand |
Walking difficulties/ Walking stick Bilateral hand splint |
m 38–50 p absent |
MS |
| F1/PII.4/77 years/M | UK | c.986G>A/p.Arg329His | <10 years | Slow progress Symmetric |
LL | +++ | ++ | Bilateral pes cavus
Bilateral foot drop Bilateral toe drop |
+ | ++ | None | Walking difficulties/ Bilateral AFOs Crutches |
intermed. | MS |
| F1/PII.6/70 years/M | UK | c.986G>A/p.Arg329His | 53 years | Slow progress Symmetric |
LL | ++ | ++ | Bilateral foot drop | None | None | None | walking difficulties/ bilateral AFOs |
intermed. | MS |
| F2/PIII.1/20 years/M | UK | c.986G>A/p.Arg329His | 12 years | Slow progress Symmetric |
LL | +++ | + | Bilateral tight Achilles pes cavo-equinus |
None | None | None | Tiptoe walking / Insoles |
m 40 p 24 |
MS |
| F3/PIII.1/32 years/M | UK | c.986G>A/p.Arg329His | 28 years | Rapid progress Asymmetric |
UL LL |
++ | ++ | Bilateral pes cavus | ++ | ++ | None | Walking difficulties/ AFO |
m 43 p 34 |
MS |
| F3/PII.1/59 years/M | UK | c.986G>A/p.Arg329His | birth | Slow progress Symmetric |
LL | +++ | + | Bilateral tight Achilles Bilateral foot drop |
None | None | None | Walking difficulties/ Feet surgeries |
n/a | n/a |
| F4/PII.2/55 years/M | UK | c.986G>A/p.Arg329His | 30 years | Slow progress Asymmetric |
LL | +++ | ++ | Bilateral foot drop Bilateral toe drop |
+++ | ++ | SPLIT hand | Walking difficulties/ Bilateral AFO Hand surgery |
m 26 u 34 |
MS |
| F4/PII.5/49 years/M | UK | c.986G>A/p.Arg329His | 18 years | Slow progress Symmetric |
LL | +++ | + | Bilateral pes cavus
Bilateral foot drop |
+ | None | Mild split hand | Walking difficulties | intermed. | MS |
| F1/PIV.5/46 years/F | Ireland | c.986G>A/p.Arg329His | <10 years | Slow progress Symmetric |
LL | ++ | ++ | Bilateral foot drop | + | None | None | Walking difficulties | m 39 u 44.9 |
MS |
| F1/PV.1/10 years/F | Ireland | c.986G>A/p.Arg329His | <10 years | Slow progress Symmetric |
LL | + | + | Bilateral tight Achilles | None | None | None | Tiptoe walking | m 47.6 p 31.6 |
MS |
| F2/PII.3/37 years/M | Ireland | c.2063A>G/p.Glu688Gly | <10 years | Slow progress Symmetric |
LL | +++ | ++ | Bilateral tight Achilles Bilateral foot drop |
++ | ++ | Split hand | Tiptoe walking | u 28.7 | MS |
| F2/PIII.1/6 years/M | Ireland | c.2063A>G/p.Glu688Gly | <1 years | Slow progress Symmetric |
LL | ++ | n/a | Bilateral tight Achilles Bilateral foot drop |
+ | n/a | Mild split hand | Tiptoe walking bilateral AFOs | m 36.8 p 27.6 |
MS |
| F2/PIII.2/5 years/F | Ireland | c.2063A>G/p.Glu688Gly | <1 years | Slow progress Symmetric |
LL | + | n/a | Bilateral tight Achilles Bilateral foot drop |
+ | n/a | Mild split hand | Tiptoe walking bilateral AFOs | m 29.3 | MS |
F family, P patient, M male, F female, UL upper limb, LL lower limb, + mild, ++ moderate, +++ severe, AFO ankle foot orthesis, n/a not available, m/s metre per second, m median nerve, p peroneal nerve, u ulnar nerve, intermed. intermediate, MS motor and sensory