An ALS case with a novel D90N-SOD1 heterozygous missense mutation

作者：Calvo Andrea^*; Ilardi Antonio; Moglia Cristina; Canosa Antonio; Carrara Giovanna; Valentini Consuelo; Ossola Irene; Brunetti Maura; Restagno Gabriella; Chio Adriano

来源：Amyotrophic Lateral Sclerosis, 2012, 13(4): 393-395.

DOI：10.3109/17482968.2012.673170

• ALS
• genetics
• SOD1

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 %26gt; 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.

• 出版日期2012-6