Clinical heterogeneity in a sibship with Niemann‐Pick disease type C
Clinical heterogeneity in a sibship with Niemann‐Pick disease type C
复制标题
患有 C 型尼曼-皮克病的同胞的临床异质性
DOI：
10.1111/j.1399-0004.1983.tb01860.x
复制
发表时间：
1983
影响因子：
3.5
通讯作者：
G. Bach
中科院分区：
文献类型：
--
作者：
S. Yatziv;Z. Leibovitz‐Ben Gershon;A. Ornoy;G. Bach
The clinical presentation of Niemann‐Pick type C is variable. However, in families hitherto described, the affected individuals in a given sibship show a similar clinical course. A family with histological and biochemical findings of Niemann‐Pick type C is described. Four of the affected siblings presented with an early onset and a fulminant course resembling Niemann‐Pick type A, whereas in the fifth sibling a later onset and a much slower neurological deterioration was observed. Genetic counseling in families with Niemann‐Pick type C should take into consideration the possibility of clinical heterogeneity within the same sibship.
