Tangier disease - A diagnostic challenge in countries endemic for leprosy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 2, 2004, Pages 301-304

  Sinha, S ^a   Mahadevan, A ^a   Lokesh, L ^a   Ashraf, V ^a   Chandrasekhar Sagar, B K ^a   Taly, A B ^a   Shankar, S K ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN; LEPROSTATIC AGENT; LOW DENSITY LIPOPROTEIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; CORRELATION ANALYSIS; DEMYELINATING NEUROPATHY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; ELECTRODERMAL RESPONSE; EMPIRICISM; ENDEMIC DISEASE; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; INDIA; LABORATORY TEST; LEPROSY; LONG TERM CARE; MALE; MEDIAN NERVE; MONONEUROPATHY; NERVE BIOPSY; NERVE CONDUCTION; PHYSIOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCHWANN CELL; SKIN BIOPSY; SURAL NERVE; TANGIER DISEASE; TROPICS; ULNAR NERVE; ULTRASTRUCTURE;

EID: 0842330674     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.022277     Document Type: Article

References (13)

1. Yao JK, Herbert PN. Lipoprotein deficiency and neuromuscular manifestations. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy, 3rd ed. Philadelphia: WB Saunders Co, 1993:1179-93.
2. Fredrickson DS, Altrocchi PH, Avioli LV, et al. Tangier disease. Ann Int Med 1961;55:1016-1031.
3. Assman G, Eckardstein AV, Brewer HB Jr, Familial An-alphalipoprotenemia: Tangier disease. In: Scriver CR, Beaudot AL, Sly WS, et al, eds. The metabolic and molecular basis of inherited diseases, 8th ed. New York: MacGraw Hill, 2001:2937-56.
4. Anonymous. Case reports of the Massachusetts General Hospital, weekly clinicopathological exercises - case 16-1996, a 36 year-old woman with bilateral facial and hand weakness and impaired truncal sensation. N Engl J Med 1996;334:1389.
5. Gibbels E, Schaefer HE, Runne U. Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. J Neurol 1985;232:283.
6. Pollock M, Nukada H, Frith RW, et al. Peripheral neuropathy in Tangier disease. Brain 1983;106:911-28.
7. Schmalbruch H, Stender S, Boysen G. Abnormalities in spinal neurons and dorsal root ganglion cells in Tangier disease presenting with a syringomyelia-like syndrome. J Neuropathol Exp Neurol 1987;46:533-43.
8. Antoine CA, Tommasi M, Boucheron S, et al. Pathology of roots, spinal cord and brain stem in syringomyelia-like syndrome of Tangier disease. J Neurol Sci 1991;106:179-85.
9. Francis GA, Knopp RH, Oram JF. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease. J Clin Invest 1995;96:78.
10. Bodzioch M, Orso E, Klucken J, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999;22:347-351.
11. Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999;22:352.
12. Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999;22:336-345.
13. Dyck PJ, Ellefson RD, Yao JK, et al. Adult onset of Tangier disease-1, Morphometric and pathological studies suggesting delayed degradation of neutral lipids after fiber degeneration. J Neuropathol Exp Neurol 1978;37:119-37.