PROGRESSIVE PONTOBULBAR PALSY WITH DEAFNESS - CLINICAL AND PATHOLOGICAL-STUDY OF 2 CASES
PROGRESSIVE PONTOBULBAR PALSY WITH DEAFNESS - CLINICAL AND PATHOLOGICAL-STUDY OF 2 CASES
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DOI：
10.1001/archneur.1981.00510030080012
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发表时间：
1981-01-01
影响因子：
--
通讯作者：
CARTON, H
中科院分区：
文献类型：
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作者：
BRUCHER, JM;DOM, R;CARTON, H
在遗传性的神经系统的影响与耳聋，一种罕见的条件称为进行性桥球麻痹与耳聋被描述。在这种缓慢进展的疾病中，听力丧失和前庭反射几乎总是第一症状，发生在儿童晚期或成年早期。仅有18例（一些是散发性的，一些是家族性的）未发表完整的病理报告。报告了2例新发病例的临床和病理资料，其中家族性1例，散发性1例。与其他形式的球麻痹、下运动神经元疾病和一些脊髓小脑遗传性疾病不同。从家族病例的同时性和同型性以及病理结果来看，进行性桥球麻痹伴耳聋似乎是一种常染色体隐性遗传的无生物营养过程。
Among the hereditary affections of the nervous system associated with deafness, a rare condition called progressive pontobulbar palsy with deafness is described. In this slowly progressive condition, hearing loss and vestibular areflexia are almost always the 1st symptoms, occurring in late childhood or early adulthood. Only 18 cases, some sporadic, several familial, were published without a full report of pathological findings. The clinical and pathological data of 2 new cases, 1 familial, 1 sporadic, are described. There are differences from other forms of bulbar paralysis, lower motor neuron diseases and some spinocerebellar hereditary affections. In view of the homochrony and homotypy in familial cases and the pathological findings, progressive pontobulbar palsy with deafness appears to be an abiotrophic process with autosomal recessive inheritance.