Department of Neurology, College of Medicine, Jeju National University, 1 Ara 1-dong, Jeju-si, Jeju-do 690-756, Korea.
J Neurol. 2009 Oct;256(10):1724-7. doi: 10.1007/s00415-009-5191-6. Epub 2009 Jun 2.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy linked to mutations in the Notch3 gene. The cerebral impairments of CADASIL are well-known, but peripheral nervous impairments such as polyneuropathy are less clear. Recently, peripheral neuropathy was proposed as one of the CADASIL phenotypes. We investigated peripheral nerve involvement in CADASIL patients. Forty-three CADASIL patients with confirmed Notch3 gene mutations underwent a nerve conduction studies using a conventional surface technique in 86 upper and lower extremities. Nerve conduction abnormalities were apparent in seven of the 43 patients. Of the seven patients, four displayed nerve entrapment syndromes (carpal tunnel syndrome, n = 3; ulnar neuropathy, n = 1), and three displayed sensorimotor polyneuropathy. Of the latter three, two patients had diabetes mellitus. We suggest that peripheral neuropathy may not be part of the CASASIL phenotype. However, genotype-phenotype heterogeneity can not be excluded.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是一种与 Notch3 基因突变相关的遗传性脑小血管病。CADASIL 的脑损伤众所周知，但周围神经损伤，如多发性神经病，尚不清楚。最近，多发性神经病被提议作为 CADASIL 的表型之一。我们研究了 CADASIL 患者的周围神经受累情况。43 名经 Notch3 基因突变证实的 CADASIL 患者在 86 个上下肢中使用常规表面技术进行了神经传导研究。在 43 名患者中有 7 名患者出现了神经传导异常。在这 7 名患者中，有 4 名出现了神经卡压综合征（腕管综合征，n = 3；尺神经病变，n = 1），3 名出现了感觉运动性多发性神经病。在后 3 名患者中，有 2 名患有糖尿病。我们认为，周围神经病可能不是 CADASIL 表型的一部分。然而，不能排除基因型-表型异质性。
