Kneer Katharina, Straub Stephanie, Wittlinger Julia, Stahl Jan-Hendrik, Winter Natalie, Timmann Dagmar, Schöls Ludger, Synofzik Matthis, Bender Friedemann, Grimm Alexander
Department of Epileptology, Center of Neurology, Universitätsklinikum Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany.
Hertie Institute for Clinical Brain Research, Eberhard-Karls University Tübingen, Tübingen, Germany.
J Neurol. 2024 May;271(5):2494-2502. doi: 10.1007/s00415-023-12159-2. Epub 2024 Jan 23.
To specify peripheral nerve affection in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) by correlating high-resolution nerve ultrasound and nerve conduction studies.
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.
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.
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.
通过关联高分辨率神经超声和神经传导研究，明确魁北克-萨格奈常染色体隐性遗传性痉挛性共济失调（ARSACS）中的周围神经病变情况。
我们对11例ARSACS患者进行了标准化的神经传导研究和周围神经高分辨率超声检查，并将神经超声检查结果与年龄、性别、身高和体重相匹配的健康对照组进行比较。
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。所有患者均表现为痉挛、共济失调和周围神经病变。11例中有9例神经病变主要表现为脱髓鞘，2例因无法引出电位而无法分类。神经超声显示，每位ARSACS患者的超声模式总分（UPSS）正常，与对照组相比，神经无明显增粗。
ARSACS中的周围神经病变主要表现为脱髓鞘而非轴索性特征，且无神经增粗。由于脱髓鞘性神经病变通常会出现神经增粗，因此我们建议对出现这种脱髓鞘性神经病变且无神经增粗的患者进一步进行SACS基因检测。最初仅表现为神经病变而无痉挛或共济失调，因此被误诊为夏科-马里-图斯病的ARSACS病例支持了这一建议。
