2 BROTHERS WITH A VARIANT OF HEREDITARY SENSORY NEUROPATHY

被引:9
作者
PAVONE, L
HUTTENLOCHER, P
SICILIANO, L
MICALI, G
RIZZO, R
ANASTASI, M
MAIMONE, D
WOOLMANN, R
机构
[1] MARSALA HOSP,DIV PEDIAT,MARSALA,ITALY
[2] UNIV SIENA,DEPT NEUROL SCI,I-53100 SIENNA,ITALY
[3] UNIV CATANIA,DERMATOL CLIN,I-95125 CATANIA,ITALY
[4] UNIV CHICAGO,DEPT NEUROPEDIAT,CHICAGO,IL 60637
[5] UNIV CHICAGO,DEPT PATHOL,CHICAGO,IL 60637
关键词
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE-IV; SURAL NERVE; ELECTRON MICROSCOPY;
D O I
10.1055/s-2008-1071319
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report two brothers with the clinical symptoms and neuropathological findings of hereditary sensory and autonomic neuropathy (HSAN) type IV but with normal sweating function and absence of recurrent fever. We propose that our patients may have a lower degree of expression of the genetic defect underlying HSAN ty pe IV or that they represent a separate genetic entity.
引用
收藏
页码:92 / 95
页数:4
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