伴有视神经萎缩的遗传性运动和感觉性神经病VI型
Hereditary motor and sensory neuropathy type VI with optic atrophy.
作者信息
Voo Irene, Allf Bryan E, Udar Nitin, Silva-Garcia Rosamaria, Vance Jeffrey, Small Kent W
机构信息
Department of Ophthalmology, UCLA School of Medicine, Jules Stein Eye Institute, Los Angeles, California 90095, USA.
出版信息
Am J Ophthalmol. 2003 Oct;136(4):670-7. doi: 10.1016/s0002-9394(03)00390-8.
PURPOSE
To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy.
DESIGN
Observational case series.
METHODS
A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing.
RESULTS
Twelve of 97 family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy, thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene.
CONCLUSIONS
This family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. No association was found with changes in the OPA1 gene.
目的
呈现一个患有遗传性运动和感觉性神经病VI型（HMSN VI）的大家族的详细临床发现，该综合征的特征为视神经萎缩。
设计
观察性病例系列。
方法
获取了详细病史，并对先证者的大家庭进行了体格检查，以寻找神经功能障碍的证据。通过直接DNA测序筛查OPA1基因的突变。
结果
在接受检查的97名家庭成员中，有12人出现HMSN VI的体征。另外3名成员患有视神经萎缩或周围神经病，从而得以全面了解该疾病的临床谱。未在OPA1基因中发现突变。
结论
这个家族证明了该疾病的可变表达性以及不完全外显率。这是已知的最大的HMSN VI家族。未发现与OPA1基因变化有关联。
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