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Träfflista för sökning "L773:1466 0822 OR L773:1743 4483 srt2:(2010)"

Sökning: L773:1466 0822 OR L773:1743 4483 > (2010)

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1.
  • Blumen, Sergiu C, et al. (författare)
  • Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation.
  • 2010
  • Ingår i: Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders. - : Informa Healthcare. - 1466-0822 .- 1743-4483. ; 11:1-2, s. 228-231
  • Tidskriftsartikel (refereegranskat)abstract
    • We studied two sisters with rapidly progressing ALS starting at the ages of 46 and 48 years and leading to death after 14 months. Both fulfilled the El Escorial criteria for definite ALS and had marked upper motor neuron (UMN) predominance. Brain MRI, on fluid attenuation recovery (FLAIR) mode, showed outstanding hyperintensities of the precentral gyrus, centrum semiovale, corona radiata and along the corticospinal pathways in the brainstem. Screening for the SOD1 gene disclosed, at codon 140, a base substitution of adenine for thymine (GGT>CCA) known as the A140A 'silent' mutation since it does not change the amino acid (alanine) encoded for at that position. The severe UMN involvement and the fast progression of the disease may correlate with the MRI findings. It is also possible that the A140A mutation is not incidental; the mutated mRNA might be cytotoxic.
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2.
  • Holmøy, Trygve, et al. (författare)
  • G127R : a novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome
  • 2010
  • Ingår i: Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders. - : Informa UK Limited. - 1466-0822 .- 1743-4483. ; 11:5, s. 478-480
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe a patient with apparently sporadic amyotrophic lateral sclerosis (SALS) with a novel g > c point mutation at position 382 in the SOD1 gene, leading to a substitution of glycine for arginine in amino acid position 127 (G127R). The disease presented with flaccid leg paresis, and progressed rapidly with generalized paresis resulting in respiratory failure after seven months. In addition to a predominating lower motor neuron syndrome, the phenotype was characterized by a severe lower back and leg pain syndrome which was treated successfully with spinal anaesthesia.
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