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1.  Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in ALS 
Neurobiology of aging  2013;34(9):2234.e13-2234.e19.
Hexanucleotide repeat expansions in C9ORF72 are a common cause of familial and apparently sporadic amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The mechanism by which expansions cause neurodegeneration is unknown, but current evidence supports both loss-of-function and gain-of-function mechanisms. We used pooled next-generation sequencing of the C9ORF72 gene in 389 ALS patients to look for traditional loss-of-function mutations. Although rare variants were identified, none were likely to be pathogenic, suggesting that mutations other than the repeat expansion are not a common cause of ALS, and providing supportive evidence for a gain-of-function mechanism. We also show by repeat-primed PCR genotyping that the C9ORF72 expansion frequency varies by geographical region within the United States, with an unexpectedly high frequency in the Mid-West. Finally we also show evidence of somatic instability of the expansion size by Southern blot, with the largest expansions occurring in brain tissue.
doi:10.1016/j.neurobiolaging.2013.03.006
PMCID: PMC3679344  PMID: 23597494
Amyotrophic lateral sclerosis; genetics; C9ORF72 hexanucleotide repeat; C9ORF72
2.  Spinal gout mimicking paraspinal abscess: A case report 
Gout is usually thought of as a peripheral joint disease. However, case reports are available describing gouty lesions in the spine. We report a case of a 51 year old African American woman with no previous history of gout who presented with lower back pain and fever and was found to have multiple small fluid collections in the paraspinal muscles at the L3 to L5 levels on the MRI. She was empirically treated with antibiotics, since the fluid was not accessible for drainage initially. Unsuccessful antibiotic therapy and an episode of peripheral gout during this hospitalization prompted the diagnosis of axial gout as the cause for the paraspinal lesions in this patient. CT guided aspiration of the paraspinal lesions confirmed monosodium urate (gout) crystals under polarized microscopy.
doi:10.3941/jrcr.v4i6.332
PMCID: PMC3303413  PMID: 22470736
Axial gout; spinal lesions; paraspinal abscess; uric acid

Results 1-2 (2)