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Table 1 Clinical features of patients with NEFH mutations

From: Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

Family/Patient Gender/Age (years) Age at onset (years) Initial symptoms Pattern of muscle weakness Scoliosis Sensory involvement Pyramidal signs Additional clinical signs Ambulation
UL (prox) UL (dist.) LL (prox.) LL (dist.) UL LL
1 / II – 1
F/70
40 Waling difficulties ++ ++ +++ +++ + + Yes
Brisk achilean reflexes
No Bedridden
1 / II – 5
M/68
38 Walking difficulties + + ++ + No
Areflexia 4 limbs
No Ambulant without help
1 / III – 2
F/55
30 Walking difficulties ++ ++ + No
Achilles tendon areflexia
No Ambulant without help
1 / III – 3
F/51
15 Feet dysesthesia
Walking difficulties at age 27
+ ++ +++ + No Hypophonia Ambulant With a walker
1 / III – 4
M/50
30 Walking difficulties ++ + ++ +
Vibration hypoesthesia
No No Ambulant without help
I / III - 5
M/49
43 Walking difficulties + + + + No
Achilles tendon areflexia
No Ambulant without help
1 / III - 6
F/46
40 Walking difficulties ++ + No No
LL areflexia
No Ambulant without help
1 / III - 7
F/44
34 Walking difficulties ++ +++ Distal pinprick hypoesthesia Yes
Spread of patellar reflexes
No Ambulant with one can
1 / IV - 1
M/23
15 Running difficulties + Yes
Brisk reflexes in 4 limbs
No Ambulant without help
1 / IV – 5
F/23
Asymptomatic No
LL areflexia
No Ambulant
1 / IV - 6
M/17
Asymptomatic No
Achilles tendon areflexia
No Ambulant
2 / II - 1
M/23
5 Walking difficulties + + ++ +++ + + No
Areflexia
Gastroparesis Ambulant without help
  1. M = male. F = female. Y = years. - = absent. + = mild. ++ = moderate. +++ = severe. UL = upper limb. LL = lower limb. Prox = proximal. Dist = distal