Chinese CMT patients: Analysis of pathological features & gene mutations

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Zhonghua Yi Xue Za Zhi. 2005 Sep 7;85(34):2382-5.

Analysis of the pathological features and gene mutations of Chinese

patients with Charcot-Marie-Tooth disease

Guo P, Tang BS, Zhao GH, Liu XM, Zhang FF, Zhang RX, Shen L, Jiang H,

Liang JH.

Department of Neurology, Xiangya Hospital, Central South University,

Changsha 410008, China.

OBJECTIVE: To analyze the relationship of the pathological features

and the gene mutations of Chinese patients with Charcot-Marie-Tooth

disease.

METHODS: The clinical manifestations and pathological investigations

of 26 Chinese patients with Charcot-Marie-Tooth disease, 17 males and

9 females, aged 19.0 (4 - 49), with an average disease course of 0.5

approximately 30 years, 16 being with CMT1 type and 10 being with

CMT2 type. Biopsy of sural nerve was conducted in 26 cases, and gene

diagnosis was carried out in 13 cases.

RESULTS: Five patients were with peripheral myelin protein-22 (PMP22)

duplication, 4 of which showed demyelination, 4 of which showed

incrassation of myelin sheath, and two of which showed " onion bulb "

change without axonal denaturation. Four cases were with connexin 32

(Cx32) point mutations, 3 of which showed demyelination and one of

which showed incrassation of myelin sheath and absence of axonal

denaturation. The 2 patients with heat shock protein 22 (Hsp22) and

heat shock protein 27 (Hsp27) point mutations both showed axonal

atrophy, axonal loss and axonal regeneration.

CONCLUSION: The pathological findings of the Chinese CMT patients

performed by mutation screening were not completely consistent with

the pathological features reported abroad. The results of the

mutation screening are consistent with the pathological features;

mutation screening has the character of high accuracy, little harm

and helps diagnose early, so it is suggested to be performed widely

clinically, especially to the patients who has family history or to

their lineal relatives.