Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

被引:19
作者
Merlini, L
Villanova, M
Sabatelli, P
Trogu, A
Malandrini, A
Yanakiev, P
Maraldi, NM
Kalaydjieva, L
机构
[1] Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, Bologna, Italy
[2] Univ Siena, Inst Neurol Sci, Neuropathol Lab, I-53100 Siena, Italy
[3] CNR Bologna, Inst Normal & Pathol Cytomorphol, Bologna, Italy
[4] Univ Bologna, ORL Clin, Bologna, Italy
[5] Bulgarian Acad Sci, Inst Mol & Cell Biol, Sofia, Bulgaria
[6] Edith Cowan Univ, Perth, WA, Australia
关键词
nerve biopsy; hereditary motor and sensory neuropathy; Gypsy ethnic;
D O I
10.1016/S0960-8966(98)00023-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We describe a form of hereditary motor and sensory neuropathy (HMSN) affecting four siblings in an Italian family of Gypsy ethnic origin with both clinical and pathological findings very reminiscent of the HMSN Lom type (HMSNL), recently described in a group of Bulgarian Gypsies. Genetic analysis demonstrated linkage to chromosome 8q24 and conserved haplotypes in the HMSNL region, thus confirming that this is the first Gypsy family outside the Balkans suffering from the same disorder. (C) 1998 Elsevier Science B.V.
引用
收藏
页码:182 / 185
页数:4
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