Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family
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吉普赛家族中与听神经病相关的遗传性运动和感觉神经病
DOI：
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发表时间：
2000
期刊：
影响因子：
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通讯作者：
D. Butinar
中科院分区：
文献类型：
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作者：
L. Leonardis;J. Zidar;Mara Popović;Vincent Timmerman;A. Löfgren;C. Broeckhoven;D. Butinar
在一个斯洛文尼亚吉普赛家族四代19人中，发现3例具有遗传性运动和感觉神经病--Lom（HMSNL）临床特征的患者，他们有严重的远端和较轻的近端肌肉萎缩和无力，伴有肌收缩痉挛反射消失。两人面部无力的时候已经坐上了轮椅。所有的感觉方式都受到影响的四肢远端。瞳孔对光反应迟钝，瞳孔会聚，骨骼异常。1例患者手部有多指畸形。神经传导研究与脱髓鞘性多发性神经病相符。神经活检主要表现为轴索丢失，无肥大改变。所有患者均诊断为听神经病变。没有患者在蛋白零、外周髓磷脂蛋白和连接蛋白32基因中具有17p1.2 -12的重复或点突变。类似的疾病映射到8 q24之前在一些保加利亚和意大利吉普赛家庭中描述过。我们家族的成员可能患有相同的遗传性疾病，并可能携带相同的祖先突变，这是在过去的欧洲吉普赛人口传播。
Abstract In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy -Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. All sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17pl.2-12 or point mutations in the Protein zero, Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q24 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditary disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations.
影响因子：
56.9
作者：
BERGOFFEN, J;SCHERER, SS;FISCHBECK, KH
通讯作者：
FISCHBECK, KH