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Table 1 Clinical comparison of all reported patients carrying PMP2 mutations

From: Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Patient A.III-1 A.II-2 B.II-2 B.II-1 Hong YB et al. Motley W et al. 2016 Gonzaga-Jauregui et al. 2015 Punetha J et al. 2018
II-4 III-1 III-3 Family I/II.3 Family I/III.2 Family II/II.3.1 Family II/IV.5 Family II/IV.1
Mutation in PMP2 p.M114 T p.M114 T p.V115A p.V115A p.I43N p.I43N p.I43N p.I52T p.I52T p.T51P p.T51P p.T51P p.I43N p.I52T
Sex F M M M F M M M M F F F M F
Age at onset 1.5 y 1 y 2–3 y 2–3 y 18 y 6 y 8 y 17 y 3 y 5 y NR 18 mo 6 5
First symptoms Delay in starting to walk, frequent falls Walking with frequent falls Slight clumsiness during physical activities Slight clumsiness foot deformity Distal leg muscle weakness Frequent falling Distal leg muscle weakness Foot drop, frequent falling Impaired coordination, frequent falling Distal leg muscle weakness Distal leg muscle weakness Delay in starting to walk NR Distal leg muscle weakness
Age of involvement of upper limbs 29 y 34 y 40 y 40 y 41 y 20 y 28 y NR No involvement NR NR No involvement NR NR
Age at last examination 37 y 34 y 44 y 45 y 58 y 38 y 36 y 48 y 13 y 37 y 13 y 24 y NR 21
WEAKNESS: LOWER LIMBS (MRC SCALE)
 Knee flexion/extension 4/5 4/5 5/5 5/5 NR NE NE 5/5 5/5 NR NR 5/5 NR NR
 Foot dorsiflexion 1/5 2/5 4/5 5/5 4/5 < 4/5 4/5 4−/5 3/5 0/5 NR 1/5 NR NR
 Plantar flexion 3/5 3/5 4/5 5/5 NR NR NR 5/5 5/5 0/5 NR 4/5 NR NR
 Great toe extension 0/5 1/5 4/5 5/5 NR NR NR 0/5 3/5 0/5 NR 0/5 NR NR
WEAKNESS: UPPER LIMBS (MRC SCALE)
 Elbow flexion/extension 5/5 5/5 5/5 5/5 NR NR NR 5/5 5/5 NR NR 5/5 NR NR
 Wrist flexion 4/5 5/5 5/5 5/5 NR NR NR 5/5 5/5 NR NR 5/5 NR NR
 Wrist extension 4/5 5/5 5/5 5/5 NR NR NR 5/5 5/5 NR NR 5/5 NR NR
 Finger flexion 3+/5 45 5/5 5/5 4/5 NR < 4/5 5/5 5/5 NR 4/5 3–4/5 NR NR
 Finger extension 4/5 4/5 5/5 5/5 4/5 NR < 4/5 5/5 5/5 NR 4/5 3–4/5 NR NR
 Thumb abduction 3/5 4/5 5/5 5/5 NR NR NR 4−/5 5/5 More affected than the other intrinsic hand muscles 4/5 1/5 NR NR
REFLEXES
 Brachioradial +/− +/− NR NR NR NR +/− +/− +
 Biceps +/− +/− NR NR NR +/− +/− +
 Triceps +/− +/− NR NR NR NR +/− +/− +
 Patellar +/−
 Achille +/−
SENSATION MODALITIES: LOWER LIMBS
 Superficial D D N N D D D D D D N D D NR
 Vibration D D N N D D D D D NR N D D NR
 Romberg sign + + NE NE NR NR NR NR NR NR N + NR NR
SENSATION MODALITIES: UPPER LIMBS
 Superficial N N N N D D D N N NR N D D NR
 Vibration N N N N D D D N N NR N D D NR
 Independent ambulation Preserved/steppage Preserved/steppage Preserved Preserved Preserved Preserved Preserved Preserved Preserved Preserved with difficulties Preserved Preserved NR Preserved/steppage
 Walking aids used No No Orthopedic shoes No Ankle-foot orthoses Ankle-foot orthoses Ankle-foot orthoses Ankle foot orthoses NR NR NR NR NR No
 Skeletal deformities Pes cavus and equinovarus Pes cavus and equinovarus Pes varus L > R Pes varus Pes cavus Pes cavus Pes cavus NR Pes cavus Pes cavus and equinovarus Pes equinovarus Pes equinovarus Pes cavus, Pes cavus at the age of 12 y Pes planus at the age of 20 y
 Foot deformity surgery No Yes, at the age of 26 y On the left foot at the age of 41 y No     NR No Achilles tendon lengthening Surgery at the age of 11 NR At the age of 11 y NR Two on the right foot
 Muscle atrophy Severe for calf, peroneal, foot muscles and milder for thenar and hypothenar muscles Moderate for calf, peroneal, foot muscles Mild for calf, peroneal, foot muscles No Mild (U < L) Moderate (U < L) Mild (U < L) NR Atrophy of calf, peroneal, foot muscles Atrophy of calf, peroneal, foot, intrinsic hand muscles Atrophy of calf, peroneal, and foot muscles Atrophy of calf, peroneal, and foot muscles Atrophy of calf, peroneal, foot, intrinsic hand muscles NR
 CMT neuropathy score 15 NE NE NE 9 20 13 14 12 NR NR NR NR NR
 9HPT 25.7 s NE NE NE 22.7 s 31.4 s 26.3 s NR NR NR NR NR NR NR
 Any additional features No No No Epilepsy with generalized seizures since adolescence Hand tremor Hand tremor Hand tremor No No No No No No NR
 Muscle MRI findings Predominant signal changes in the anterior and lateral compartments of the lower leg muscles NE NE NE Predominant signal changes in the anterior and lateral compartments of the lower leg muscles Predominant signal changes in the anterior and lateral compartments of the lower leg muscles Predominant signal changes in the anterior and lateral compartments of the lower leg muscles NE NE NE NE NE NE NE
 Sural nerve biopsy NE NE NE NE Onion bulbs and degenerating fibers with various myelin abnormalities NE NE Onion bulbs, reduced density of myelinated axons NE NE NE NE Demyelinating neuropathy; onion bulb formation NE
  1. M- male, F- female mo- months, y- years, D- decreased, N- normal, L-left, R- right, 9HPT- nine hole peg test, NE- not examined, NR- not reported