Key result
ABCA1 gene mutation linked to severe premature atherosclerosis and progressive syringomyelia-like syndrome in Tangier disease.
Why the study?
Mutations in the ABCA1 gene cause Tangier disease, but no genotype–phenotype correlation has been established, especially in severe syringomyelia-like phenotypes.
Case Report (n=1)
This case report describes a novel ABCA1 gene mutation in a patient with severe Tangier disease, highlighting a rare phenotypic presentation of progressive syringomyelia-like syndrome and premature atherosclerosis.
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TD case reports merit consideration in low-HDL neuropathy; leaves open ABCA1 roles in neurological disease.
Schippling et al. (2008) conducted a case report in Tangier disease (n=1). ABCA1 gene mutation was evaluated. A 49-year-old Afghan patient with Tangier disease presented with a 15-year history of progressive syringomyelia-like syndrome and severe premature atherosclerosis linked to an ABCA1 gene mutation.
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