Table 3

Clinical findings and mutations in HMN/CMT2 patients

PtAge (years); sexOnset ageOnset symptomsMotor deficitDeformitiesSensory deficitCNSOtherGeneVariant
A:II,155;F18GaitdUL and dLLPes cavusParesthesiaSubtle SIGMAR1 p.Glu138Lys
A:II,261;F10DeformitiesdUL; pLL and dLLPes cavus; clawhand and scoliosisParesthesiaNo SIGMAR1 p.Glu138Lys
B:II,132;M2–5Frequent fallsdLLPes equinus; clawhand and scoliosisNoNoHigh CK (×3) ARHGEF28 p.Arg475Thr and
p.Cys1458Trp
B:II,229;M2–5Frequent fallsdLLPes cavus and scoliosisNoNoHigh CK (×6) ARHGEF28 p.Arg475Thr and
p.Cys1458Trp
C:II,144;M10WeaknessdUL; pLL and dLLPes planumNoYes VRK1 p.Arg321Cys
C:II,256;M30WeaknessdUL; pLL and dLLPes cavusNoYesHigh CK (×3) VRK1 p.Arg321Cys
D:II,140;M Asymptomatic Pes cavusHypopallesthesiaNoHigh CK (×3) PNKP c.1295_1298+6 del and p.Gln50Glu
D:II,239;M30CrampsdLLPes cavusHypopallesthesiaNoHigh CK (×3) PNKP c.1295_1298+6 del and p.Gln50Glu
D:II,330;F Asymptomatic Pes cavusHypopallesthesiaNo PNKP c.1295_1298+6 del and p.Gln50Glu
E:II,265;F29GaitdLLPes cavusNoYes KBTBD13 p.Ala55Gly
E:II,364;M30GaitdLLPes cavusNoYes KBTBD13 p.Ala55Gly
F:II,153;M36WeaknessdLL and pLLPes equinusHypopallesthesiaNo GNE p.Glu33Gly and p.Tyr706His
F:II,251;Ms30WeaknesspUL; dUL; pLL and dLLPes equinusHypopallesthesia and hypoesthesiaNo GNE p.Glu33Gly and p.Tyr706His
F:II,349;M30WeaknessdLLPes cavus No GNE p.Glu33Gly and p.Tyr706His
G:III,150;F2–5Clumsy gait and fallsdLL; pLL and dULPes cavus; clawhand and scoliosisHypopallesthesia and hypokinaesthesiaNoNystagmus AGRN p.Leu991Phe and p.Gln1135Arg
G:III,234;M2–5Clumsy gait and fallsdLL; pLL and dULPes cavus and clawhandHypopallesthesia and hypokinaesthesiaYes AGRN p.Leu991Phe and p.Gln1135Arg

  • CMT2, Charcot-Marie-Tooth neuropathy type 2; HMN, distal hereditary motor neuropathy; Pt, patient; dLL, distal lower limbs; dUL, distal upper limbs; pLL, proximal lower limbs; pUL, proximal upper limbs.