Early onset axonal CMT 4A: Novel mutations in the GDAP1 gene in patients

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Neuromuscul Disord. 2009 Jun 3.

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal

Charcot-Marie-Tooth type 4A.

Moroni I, Morbin M, Milani M, Ciano C, Bugiani M, Pagliano E, Cavallaro T,

Pareyson D, Taroni F.

Division of Child Neurology, Fondazione IRCCS Istituto Neurologico " Carlo

Besta " , Milan, Italy.

We report a detailed study of eight patients from four Italian families

presenting with autosomal recessive axonal Charcot-Marie-Tooth disease

(AR-CMT2), characterized by early-onset and progressive severe weakness of all

limbs. Vocal cord paresis was present in two cases. Sural nerve biopsy performed

in three patients showed a severe neuropathy characterized by a predominant

axonal involvement. Five novel mutations (p.Gln99stop, p.Gln122Lys,

p.Arg125stop, p.Val219Asp, p.Asn297Lys) and one previously reported mutation

(p.Leu239Phe) were identified in GDAP1 gene. GDAP1 mutations should be

considered both in recessive and sporadic cases of early-onset axonal CMT.