Klein C J, Wu Y, Kruckeberg K E, Hebbring S J, Anderson S A, Cunningham J M, Dyck P J B, Klein D M, Thibodeau S N, Dyck P J
The Peripheral Neuropathy Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1022-4. doi: 10.1136/jnnp.2004.050062.
The variable clinical features of hereditary sensory and autonomic neuropathy (HSAN I) suggest heterogeneity. Some cases of idiopathic sensory neuropathy could be caused by missense mutations of SPTLC1 and RAB7 and not be recognised as familial.
To screen persons with dominantly inherited HSAN I and others with idiopathic sensory neuropathies for known mutations of SPTLC1 and RAB7.
DNA was examined from well characterised individuals of 25 kindreds with adult onset HSAN I for mutations of SPTLC1 and RAB7; 92 patients with idiopathic sensory neuropathy were also screened for known mutations of these genes.
Of the 25 kindreds, only one had a mutation (SPTLC1 399T-->G). This kindred, and 10 without identified mutations, had prominent mutilating foot injuries with peroneal weakness. Of the remainder, 12 had foot insensitivity with injuries but no weakness, one had restless legs and burning feet, and one had dementia with hearing loss. No mutation of RAB7 was found in any of these. No known mutations of SPTLC1 or RAB7 were found in cases of idiopathic sensory neuropathy.
Adult onset HSAN I is clinically and genetically heterogeneous and further work is required to identify additional genetic causes. Known SPTLC1or RAB7 mutations were not found in idiopathic sensory neuropathy.
遗传性感觉和自主神经病变（HSAN I）的临床特征多样，提示存在异质性。一些特发性感觉神经病变病例可能由SPTLC1和RAB7的错义突变引起，且未被识别为家族性疾病。
筛查显性遗传性HSAN I患者及其他特发性感觉神经病变患者中SPTLC1和RAB7的已知突变。
对25个成年发病的HSAN I家系中特征明确的个体进行DNA检测，以查找SPTLC1和RAB7的突变；还对92例特发性感觉神经病变患者进行了这两个基因已知突变的筛查。
在25个家系中，只有1个家系存在突变（SPTLC1 399T→G）。这个家系以及另外10个未发现突变的家系，均有严重的足部毁损性损伤并伴有腓骨肌无力。其余家系中，12个家系有足部感觉减退及损伤但无肌无力，1个家系有不宁腿和足部烧灼感，1个家系有痴呆伴听力丧失。这些家系中均未发现RAB7突变。特发性感觉神经病变患者中未发现SPTLC1或RAB7的已知突变。
成年发病的HSAN I在临床和遗传方面均具有异质性，需要进一步研究以确定其他遗传病因。特发性感觉神经病变中未发现已知的SPTLC1或RAB7突变。
