Colomer J, Iturriaga C, Kalaydjieva L, Angelicheva D, King R H, Thomas P K
Servei de Neurologia, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.
Neuromuscul Disord. 2000 Dec;10(8):578-83. doi: 10.1016/s0960-8966(00)00149-8.
The clinical, electrophysiological, pathological and genetic findings are described in the first Spanish family diagnosed with hereditary motor and sensory neuropathy type Lom (HMSNL) initially identified by Kalaydjeva et al. in 1996. The three affected patients belong to a non-consanguineous family with Gypsy background that were followed up over 10 years. Serial clinical and neurophysiological examinations and genetic analysis were undertaken in every patient. Sural nerve biopsy was performed in the oldest patient. The clinical features are similar to those previously described in HMSNL and all of them showed abnormal brain auditory evoked potentials. The oldest brother developed sensorineural deafness at the age of 20. Conduction velocities were unobtainable in all patients and nerves tested except for the median nerve in the youngest child in whom conduction was severely slowed. Neuropathological examination revealed a severely depleted nerve with very few surviving myelinated fibers which possessed thin myelin sheaths. Schwann cell processes were arranged in circular configurations without typical onion bulb configuration. Genetic analysis showed that the maternal chromosome inherited by all three affected siblings displayed a very unusual haplotype. Our patients show the characteristic clinical, electrophysiological and pathological findings described in HMSNL and represent the first reported Spanish family affected from the disease. The genetic findings in this family have contributed to refine the HMSNL critical linkage region.
本文描述了首个被诊断为洛姆型遗传性运动和感觉神经病（HMSNL）的西班牙家族的临床、电生理、病理及基因学发现。该家族最初由卡拉伊杰娃等人于1996年确定。三名患病患者来自一个具有吉普赛背景的非近亲家庭，随访时间超过10年。对每位患者进行了系列临床和神经生理学检查以及基因分析。对年龄最大的患者进行了腓肠神经活检。临床特征与先前报道的HMSNL相似，且所有患者均显示脑听觉诱发电位异常。年龄最大的哥哥在20岁时出现感音神经性耳聋。除最小的孩子的正中神经传导严重减慢外，所有患者及所检测的神经均无法测得传导速度。神经病理学检查显示神经严重萎缩，存活的有髓纤维极少，且髓鞘薄。施万细胞突起呈圆形排列，无典型的洋葱球样结构。基因分析表明，三名患病同胞所继承的母系染色体呈现出非常罕见的单倍型。我们的患者表现出HMSNL所描述的典型临床、电生理和病理特征，是首个报道的受该病影响的西班牙家族。该家族的基因学发现有助于细化HMSNL关键连锁区域。
