X连锁痉挛性截瘫
X-linked spastic paraplegia.
作者信息
Ulkü A, Karasoy H, Karatepe A, Gökçay F
机构信息
Aegean University, Pediatric Neurology Unit, Izmir, Turkey.
出版信息
Acta Neurol Scand. 1991 Jun;83(6):403-6. doi: 10.1111/j.1600-0404.1991.tb03972.x.
This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia. The disease was characterized by hyperreflexia, progressive spastic gait disorder, extensor plantar responses and mental retardation in all of the affected members of the family we studied. In addition to these symptoms, the older patients had cerebellar findings, severe disability and contractures. This is the 13th family manifesting x-linked spastic paraplegia reported in the literature.
本文描述了一个有10名男性患X连锁痉挛性截瘫的家族。在单纯型和复杂型遗传性痉挛性截瘫中，X连锁遗传很少见。在我们研究的这个家族的所有患病成员中，该疾病的特征为反射亢进、进行性痉挛性步态障碍、跖伸反应和智力迟钝。除这些症状外，年长患者还有小脑病变、严重残疾和挛缩。这是文献中报道的第13个表现为X连锁痉挛性截瘫的家族。
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