【摘要】 目的报道一个五代母系遗传的未知神经变性疾病家系。方法家系调查、临床资料收集、线粒体DNA分子遗传学检测。结果本家系5代,共43人,17人患病,男性9人,女性8人,发病年龄5～40岁,呈母系遗传。所有患者均有视神经萎缩,部分患者伴严重肌张力障碍和双侧基底节异常MR信号。分子遗传学检测未发现与Leber遗传性视神经病(LHON)有关的已知突变,亦未发现与神经性肌无力-共济失调-色素性视网膜炎(NARP)有关的8893位点突变。结论本家系临床表现独特,且未见与此表型类似的已知线粒体疾病突变位点存在,可能是一种与已知突变不同的LHON或新型线粒体疾病。更多还原

【Abstract】 Objective To report a five-generation Chinese family with unidentified maternally transmitted hereditary neurodegenerative disease.Methods Pedigree investigation, clinical material collection and molecular genetic analysis. Results The pedigree consisted of five generations with 43 members and 17 affected (male:9;female:8),the onset age was 5～40, the hereditary model is maternally transmitted. All affected members had optic neuropathy ,some with severe dystonia associated with bilateral basal ganglia lesions on MRI. Molecular genetic analysis show the patients didn’t harbor the identified mutations associated with Leber hereditary optic neuropathy(LHON) and NARP (neurogenic muscle weakness, ataxia,and retinitis pigmentosa) . Conclusions The patients of this pedigree show special clinical presentations and do not harbor the identified mutations associated with mitochondrial disorders such as LHON and NARP which resemble the cases from this family in clinical phenotype. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome.更多还原