Butinar D, Zidar J, Leonardis L, Popovic M, Kalaydjieva L, Angelicheva D, Sininger Y, Keats B, Starr A
Institute of Clinical Neurophysiology, University of Ljubljana, Slovenia.
Ann Neurol. 1999 Jul;46(1):36-44. doi: 10.1002/1531-8249(199907)46:1<36::aid-ana7>3.0.co;2-j.
Members of a Roma (Gypsy) family with hereditary motor and sensory peripheral neuropathy (HMSN) and concomitant auditory and vestibular cranial neuropathies were identified in Kocevje, Slovenia. The illness begins in childhood with a severe and progressive motor disability and the deafness is delayed until the second decade. There are no symptoms of vestibular dysfunction. The family structure is consistent with an autosomal recessive pattern of inheritance and the genetic locus for the disorder is linked to the same region of chromosome 8q24 as other Roma families with HMSN and deafness from Lom, Bulgaria (HMSN-Lom). The present study shows that the deafness is caused by a neuropathy of the auditory nerve with preserved measures of cochlear outer hair cell function (otoacoustic emissions and cochlear microphonics) but absent neural components of auditory brainstem potentials. The hearing loss affects speech comprehension out of proportion to the pure tone loss. Vestibular testing showed absence of caloric responses. Physiological and neuropathological studies of peripheral nerves were compatible with the nerve disorder contemporaneously affecting Schwann cells and axons resulting in both slowed nerve conduction and axonal loss. Genetic linkage studies suggest a refinement of the 8q24 critical region containing the HMSN-Lom locus that affects peripheral motor and sensory nerves as well as the cranial auditory and vestibular nerves.
在斯洛文尼亚的科切维耶发现了一个罗姆（吉普赛）家族，其成员患有遗传性运动和感觉性周围神经病（HMSN），并伴有听觉和前庭性颅神经病。该病始于儿童期，伴有严重且进行性的运动残疾，耳聋则延迟至第二个十年出现。没有前庭功能障碍的症状。家族结构符合常染色体隐性遗传模式，该疾病的基因位点与来自保加利亚洛姆的其他患有HMSN和耳聋的罗姆家族（HMSN-Lom）一样，与8号染色体q24区域相连。本研究表明，耳聋是由听神经病引起的，耳蜗外毛细胞功能（耳声发射和耳蜗微音电位）的测量结果正常，但听觉脑干电位的神经成分缺失。听力损失对言语理解的影响与纯音损失不成比例。前庭测试显示无冷热反应。周围神经的生理和神经病理学研究与同时影响施万细胞和轴突的神经疾病相符，导致神经传导减慢和轴突损失。基因连锁研究表明，对包含HMSN-Lom基因位点的8q24关键区域进行了细化，该区域会影响周围运动和感觉神经以及颅听觉和前庭神经。
