家族性发作性运动诱发性运动障碍六个家系的临床及遗传特点分析.pdf

# 726# 2006 11 39 11 Chin JNeurol, N ovem ber 2006, Vol 39, No1 11 # # 周瑾瑕 李国良 刘鼎 陈婵娟 章蓓 吴志国 肖波 ( paroxysm al inesigenic dys inesia, PKD) 6 PKD 122, 26, 6 26, 18 , 8( B= 2. 25B1) 4~ 30, , , , 1m in, , , 6 4 2, ; 2, /, , 4 , ( anticipation) PKD, , ( heterogeneity) PKD ; ; C lin ical and gene tic analy sis of six fam ilies of paroxy sm al k inesigen ic dy sk inesia ZHO U J in-x ia, LI Guo-liang, LIU D ing, CH EN Chan-j uan, ZHAN G Bei, WU Zh i-g uo, X IA O Bo. D ep a tmen t of N eu o logy, X iangya H osp ital of Cen t al Sou th Unive sity, Chang sha 410008, China Co esp onding autho : LI Guo-liang, Emai:l tvtv tv06@ yahoo. com. cn A bstract O bj ective To study the clin ical and genetic features of fam ilial paroxysm al inesigen ic dys inesia ( PKD ). M e thods 122 m embers in 6 Chinese ped igrees w ere follow ed up, includ ing 26 patients. C lin ical inform ation was analyzed. Resu lts There w ere 26 patients in the 6 pedigrees, including 18 m ales and 8 fem ales ( M BF= 2. 25B 1) . A ll of the patients appeared involuntary choreic, dyston ic or ballistic movements always induced by sudden movements, lasting for several seconds w ithout loss of consciousness. These m an ifestations could be relieved naturally or by antiep ileptic drugs. Physical exam inations and laboratory exam s w ere not abnormal. The genetic inheritance showed not only autosom al dom inan t ( AD ), but also autosom al recessive( AR ) . Through analys is, w e found that in the 4 AD ped igrees, the onset age was earlier and the severity w as increasing in the subsequent generations, w hich suggested genetic anticipation. Conc lu sion s PKD is a clin ically and genetically heterogeneous neurogenerative