Tangier disease
Evidence-based neurology checklist on tangier disease: Genetics This is caused by mutations in the ABCA1 gene This is on chromosome 9q31 The transmission is autosomal co-dominant Most cases are from Tangier in Morocco Pathology Lymphoid-related features Peripheral neuropathy (PN) Ophthalmic…
Genetics
- This is caused by mutations in the ABCA1 gene
- This is on chromosome 9q31
- The transmission is autosomal co-dominant
- Most cases are from Tangier in Morocco
Pathology
Lymphoid-related features
Peripheral neuropathy (PN)
Ophthalmic features
Other features
Differential diagnosis
Acronym
References
- Schippling S, Orth M, Beisiegel U, et al. Severe Tangier disease with a novel ABCA1 gene mutation. Neurology 2008; 71:1454-1455.
- Zuchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schroder JM. A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. Brain 003; 126:920-927.
- Sinha S, Mahadevan A, Lokesh L, et al. Tangier disease- a diagnostic challenge in countries endemic for leprosy. JNNP 2004; 75:301-304.
- Subramaniam K, Babu LA, Shah N. A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation. J Postgrad Med 2021; 67:29-32.
