METHODS: We assessed a cohort of 11 ARSACS patients with standardized nerve conduction studies and high-resolution ultrasound of peripheral nerves and compared nerve ultrasound findings to a healthy control group matched for age, sex, size and weight.
RESULTS: Mean age of patients was 39.0 (± 14.1) years and disease duration at assessment 30.6 (± 12.5) years. All patients presented with a spasticity, ataxia and peripheral neuropathy. Neuropathy appeared to be primarily demyelinating in 9/11 cases and was not classifiable in 2/11 cases due to not evocable potentials. Nerve ultrasound revealed a normal ultrasound pattern sum score (UPSS) in each ARSACS patient and no significant nerve enlargement compared to the control group.
CONCLUSIONS: Peripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion.
方法:我们评估了11名接受标准化神经传导研究和高分辨率周围神经超声检查的ARSACS患者的队列,并将神经超声检查结果与年龄相匹配的健康对照组进行了比较。性别,尺寸和重量。
结果:患者的平均年龄为39.0(±14.1)岁,评估时的病程为30.6(±12.5)年。所有的病人都出现痉挛,共济失调和周围神经病变。在9/11病例中,神经病变似乎主要是脱髓鞘,在2/11病例中由于无法唤起的潜力而无法分类。神经超声显示每位ARSACS患者的超声模式总和评分(UPSS)正常,与对照组相比无明显的神经扩大。
结论:ARSACS的周围神经病变主要表现为脱髓鞘,而不是轴突特征,并且没有神经肿大。由于脱髓鞘性神经病通常会表现出神经肿大,因此我们建议对患有这种脱髓鞘性神经病而没有神经肿大的患者进行SACS基因的进一步遗传检测。最初仅出现无痉挛或共济失调的神经病变,因此被误诊为Charcot-Marie-Tooth病的ARSACS病例支持这一建议。