Thomas P K, Kalaydjieva L, Youl B, Rogers T, Angelicheva D, King R H, Guergueltcheva V, Colomer J, Lupu C, Corches A, Popa G, Merlini L, Shmarov A, Muddle J R, Nourallah M, Tournev I
Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Ann Neurol. 2001 Oct;50(4):452-7. doi: 10.1002/ana.1137.
A novel peripheral neuropathy of autosomal recessive inheritance has been identified in Balkan Gypsies and termed hereditary motor and sensory neuropathy-Russe (HMSN-R). We investigated 21 affected individuals from 10 families. Distal lower limb weakness began between the ages of 8 and 16 years, upper limb involvement beginning between 10 and 43 years, with an average of 22 years. This progressive disorder led to severe weakness of the lower limbs, generalized in the oldest subject (aged 57 years), and marked distal upper limb weakness. Prominent distal sensory loss involved all modalities, resulting in neuropathic joint degeneration in two instances. All patients showed foot deformity, and most showed hand deformity. Motor nerve conduction velocity was moderately reduced in the upper limbs but unobtainable in the legs. Sensory nerve action potentials were absent. There was loss of larger myelinated nerve fibers and profuse regenerative activity in the sural nerve. HMSN-R is a new form of autosomal recessive inherited HMSN caused by a single founder mutation in a 1 Mb interval on chromosome 10q.
在巴尔干吉普赛人中发现了一种常染色体隐性遗传的新型周围神经病变，称为遗传性运动和感觉神经病变-鲁塞型（HMSN-R）。我们对来自10个家庭的21名患者进行了研究。下肢远端无力始于8至16岁之间，上肢受累始于10至43岁之间，平均为22岁。这种进行性疾病导致下肢严重无力，在年龄最大的患者（57岁）中全身受累，上肢远端明显无力。明显的远端感觉丧失涉及所有感觉模式，导致两例出现神经性关节退变。所有患者均有足部畸形，多数有手部畸形。上肢运动神经传导速度中度降低，但下肢无法测得。感觉神经动作电位消失。腓肠神经有较大的有髓神经纤维丢失和大量再生活动。HMSN-R是常染色体隐性遗传的HMSN的一种新形式，由10号染色体长臂上1 Mb区间的一个单一奠基者突变引起。
