ArticleAnnals of Indian Academy of Neurology
Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 10 citations in OpenAlex.
- Genetically Engineered Hamster Models of Dyslipidemia and Atherosclerosis.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Genetically-engineered hamster models: applications and perspective in dyslipidemia and atherosclerosis-related cardiovascular disease.Medical review (2021) · 2021Article
- Myelin Defects in Niemann-Pick Type C Disease: Mechanisms and Possible Therapeutic Perspectives.International journal of molecular sciences · 2021Review
- A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation.Journal of postgraduate medicineArticle
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis.
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