我国Joseph病黄氏家系的临床研究

STUDIES ON A LARGE HUANG'S CHINESE FAMILY WITH JOSEPH DISEASE

本文报告了对Joseph病黄氏家系的综合性研究及流行病学调查的结果。该家系包括5代共76人,其直系亲属56人中27人发病,已死亡9人。本文报告18例病例简介,临床表现智力正常,卷发、突眼、面肌抽搐、小脑性共济失调、锥体系及锥体外系症状、下肢痉挛性瘫及周围神经受损,肌电图示有高而宽大的运动电位,周围神经运动传导速度低于正常。按其临床特性进行了分型。对部分患者还进行了血液中LPO、SOD值、脑脊液HVA值检查,氮基酸分析,小脑CT及MRI检查,染色体检查,皮肤、肌肉、神经活检,成纤维细胞培养及免疫组化研究。Joseph病的研究,对我国的优生优育有重要意义。

Detailed neurological examination were made in 27 patients (male 13, female 14) from 56 directly related offsprings of a large Chinese Huang's family with Joseph disease, which consisted of 76 persons in 5 generations. The family is the largest one of the Joseph disease family in Asia, and this is the first report in China. The Huang's family lives in the area of Beijing, Tianjin and Tangshan. And beginning from May 1988, we have made a systematic study in the Joseph disease in different respects, including clinical classification, peripheral neuropathology, karyotype and haplotype analysis, electrophysiology, histochemical and submicroscopic obsearvations. The clinical features showed various combinations of the following symptoms: normal intellegence, bulging eyes, nystagsmus, curling hair, wide metatarsals, facial muscular spasm, tongue muscle fasiculation, ocular paralysis, cerebellar ataxia, pyramidal and extrapyramidal signs, marked. spasticity with pathololgical reflexes, clonus and peripheral neuropathy. Normal karyotype findings suggested that the disease of Huang' s family is a hereditary disease of genetic type. Haplotype analysis showed that the Joseph disease gene might loosely link with HLA with a lods score equals to 1. 27. HVA and dopamine metabolites were siginificanty low as compared with other non degeneration disease. Needle EMG disclosed a systematic neurogenic change with high amplitude potentials and reduced interference pattern. Sensory evoked potentials were adnormal. Atrophy of the cerebellum was remarkable in the cranial CT and MRI. Peripheral nerve biopsis were taken from 3 patients. 2 patients were found to be type Ⅰ and type Ⅱ. another one was type sub Ⅲ. All cases shared the same pathological features, which consisted of a reduction in density of myelinated and unmyelinated fibers, myelin degeneration and an increase in endoneurial collagen. It was also observed that some Schwann cells were not near to axons. whilst others showed numerous budding processes. These results might be valuable data for the research of the Joseph disease and would be of great importance for eurololgy eugenics.