Familial Madras motor neuron disease (FMMND): Study of 15 families from southern India
Familial Madras motor neuron disease (FMMND): Study of 15 families from southern India
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DOI：
10.1016/j.jns.2006.08.010
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发表时间：
2006-12-01
影响因子：
4.4
通讯作者：
Gope, R.
中科院分区：
文献类型：
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作者：
Nalini, A.;Yamini, B. K.;Gope, R.
马德拉斯运动神经元病(MMND)和马德拉斯运动神经元病变种(MMNDV)具有独特的地理分布，大多数病例集中在印度南部邦。以青年起病、四肢无力消瘦、多发性颅神经麻痹尤其累及第7、9~12位及感音神经性听力障碍为特征。此外，所有MMNDV患者都有双侧视神经萎缩。在过去的32年里，共有104名患者被诊断为MMND，其中25名具有家族形式的患者被进一步评估。在这份报告中，我们描述了这25例家族性Madras运动神经元病(FMMND)或家族性Madras运动神经元病变异型(FMMNDV)患者的临床特征，它们来自印度南部的15个家庭。确诊FMMND 10例，FMMNDV 15例，其中男性14例，女性11例，平均发病年龄13.0±6.2岁，平均病程73.6±74.0个月。值得注意的是，家族性MMNDV的发生率(25名患者中有15名)明显多于散发性MMND组[79名患者中有12名](p=0.0002)。(C)2006爱思唯尔B.V.保留所有权利。
Madras motor neuron disease (MMND) and Madras motor neuron disease variant (MMNDV) have an unique geographic distribution with concentration of majority of cases in the southern states of India. They have the characteristic features of onset in young, weakness and wasting of the limbs, multiple cranial nerve palsies particularly involving the 7th, 9th to 12th and sensorineural hearing impairment. In addition, all patients with MMNDV have bilateral optic atrophy. During the past 32 years, a total of 104 patients were diagnosed to have MMND and among these 25 patients with the familial form were further evaluated. In this report, we describe the clinical features of these 25 patients diagnosed to have familial Madras motor neuron disease (FMMND) or familial Madras motor neuron disease variant (FMMNDV), belonging to 15 families hailing from southern India. There were 10 patients diagnosed to have FMMND and 15 with FMMNDV There were 14 males and 11 females with mean age at onset of 13.0 +/- 6.2 years and mean duration of illness of 73.6 +/- 74.0 months. Notably, the occurrence of MMNDV in the familial group (15 of 25 patients) was significantly more as compared to occurrence in the group with sporadic MMND (SMMND) [12 of 79 patients] (p=0.0002). (c) 2006 Elsevier B.V. All rights reserved.