Machado－Joseph病中国家系的临床和病理研究  

Machado┐JosephdiseaseinChinesefamilies:aclinicalandpathologicalstudy

作　　者：王国相[1] 周永兴[1] 李玉芬[1] 周联生[1] 刘兴洲[1] 桂德超[1] 周宝玉[1] 王泰龄[1] 杨秉贤[1] 

机构地区：[1]中日友好医院神经内科 保健科 病理科

出　　处：《中华神经科杂志》1996年第5期293-297,共5页Chinese Journal of Neurology

基　　金：国家科委自然科学基金;卫生部课题基金

摘　　要：为了探讨Ｍａｃｈａｄｏ－Ｊｏｓｅｐｈ病在我国的发病情况，我们将１９８８年５月以来在国内相继发现的Ｍａｃｈａｄｏ－Ｊｏｓｅｐｈ病２７家系的临床、分子生物学、病理等方面进行了研究。结果显示，所有家系谱均符合常染色体显性遗传模式。发病年龄平均２９（５～３８）岁。临床突出特点为进行性共济失调、张力障碍、痉挛性肌张力增高。舌与面肌纤维性颤搐、腱反射亢进、眼球震颤等可为早期表现。姿势和运动障碍、站立不稳、趔趄步态、构音障碍、眼球快速扫视动作丧失、上视活动受限、水平性眼球震颤、眼球突出为最常见的临床表现。晚期病例除上述症状明显加重外，可见四肢远端肌肉萎缩、腱反射消失、夜间惊恐。没有明确的认知功能障碍为本病的另一临床特征。在同一家系中，可见有不同的临床类型以及型间过渡和重叠。可见后代发病年龄比先代提前的遗传早显现象。没有发现种族和地域差别。病理特征为黑质、齿状核、苍白球内侧、脑干运动神经核、克拉克柱、脊髓前角细胞、脊髓小脑束及周围神经变性和／或细胞脱失。大脑及小脑皮质正常。４个家系经基因学研究，ＭＪＤ１ＣＡＧ重复序列为７２～８６。familiesofnon-portugueseMachado-Josephdisease(MJD)wereidentifiedin16provincesofChina.Amulti-disciplinarystudywiththesesofclinicalneurology,neuropathology,andmoleculargeneticswasperformedforeightyears.AlpedigreesoftheMJDfamilieswerecorrespon-dentwithautosomaldominantinheritancetype,withanaverageage-of-onsetof29(5～38)years.Thediseasewasclinicalycharacterizedbyprogressiveataxia,dystoniaandspasticity.Faciolingualmyokymia,brisktendonjerksandnystagmusmightbepresentataninitialstage.Themostcommonclinicalmanifestationswerethose,withvariouscombinations,oftrunkataxia,athetoticmovements,lurchingandspasticgaits,dysarthria,lossofsaccadiceyemovements,upwardgazepalsy,horizontalnystagmusandbulgingeyes.Adeteriorationofthesedisorderssuperimposedtoneurogenicdistalmuscleatrophy,dystonicandspasticcontractures,andlossoftendonjerkscoulddominatetheclini-calfeaturesinadvancedcases.Thecognitivefunctionsnnomarkedlydiminishedevenintheterminalstagewouldbeanotherfeatureofthedisease.Thereappearedtobediferentvarietiesintransitionaloroverlappingformsofthediseasesyndromesinonekinshipfamily.Adramaticclinicaltendencyofage-of-onsetdecreasinginsubsequentgenerations('anticipation')wasobserved,especialyinthoseofmaternaltransmission.Pathologicalfeatureswerethoseofdegenerationandlossofneuronsinthedentatenucleiofthecerebelum,substantianigra,medialpalidum,cranialnuclei,Clack′scolumn,anteriorhorncels,spinocerebelartractsandperipheralnerves.Thecorticesofthecerebrumandcerebelumspared.AltestedpatientsinthefourpedigreeshadtheirCAGrepeatexpansionupto72to86intheMJD1gene.

关 键 词：神经病 M-J病 Joseph病 病理学 家系 中国 

分 类 号：R741.02[医药卫生—神经病学与精神病学] R744.7[医药卫生—临床医学]