Calvo Andrea, Ilardi Antonio, Moglia Cristina, Canosa Antonio, Carrara Giovanna, Valentini Consuelo, Ossola Irene, Brunetti Maura, Restagno Gabriella, Chiò Adriano
Department of Neuroscience, University of Turin, Turin, Italy.
Amyotroph Lateral Scler. 2012 Jun;13(4):393-5. doi: 10.3109/17482968.2012.673170.
Abstract Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. We describe the case of a patient with a rapidly progressive form of ALS characterized by both upper and lower motor neuron impairment, no early bulbar signs and severe pain in all four extremities. The patient had a heterozygous c.271G > A mutation in SOD1, leading to an amino acids substitution of asparagine to aspartate at position 90 of the protein chain (p.D90N). Our report confirms that ALS patients with D90 codon heterozygous mutations may be associated with rapid progression and a prominent pain syndrome.
摘要 肌萎缩侧索硬化症（ALS）是运动神经元病最常见的形式。我们描述了一例患有快速进展型ALS的患者，其特征为上下运动神经元均受损，无早期延髓症状，且四肢均有严重疼痛。该患者超氧化物歧化酶1（SOD1）基因存在杂合的c.271G＞A突变，导致蛋白质链第90位氨基酸由天冬酰胺替换为天冬氨酸（p.D90N）。我们的报告证实，具有D90密码子杂合突变的ALS患者可能与疾病快速进展及显著的疼痛综合征相关。
