Chapter 42 Specific painful neuropathies

Handbook of Clinical Neurology

Volumn 81, Issue , 2006, Pages 635-652

  Ginsberg, Lionel ^a  

^a ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 67649399035     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0072-9752(06)80046-1     Document Type: Article

References (102)

1. Anderson K.E., Sassa S., Bishop D.F., and Desnick R.J. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th edn. vol. 2. (2001), McGraw-Hill, New York 2991-3062
2. Apartis E., Leger J.M., Musset L., Gugenheim M., Cacoub P., Lyon-Caen O., Pierrot-Deseilligny C., Hauw J.J., and Bouche P. Peripheral neuropathy associated with essential mixed cryoglobulinaemia: a role for hepatitis C virus infection?. J Neurol Neurosurg Psychiatry 60 (1996) 661-666
3. Asbury A.K. Sensory neuronopathy. Semin Neurol 7 (1987) 58-66
4. Assmann G., Von Eckardstein A., and Brewer Jr. H.B. Familial analphalipoproteinemia: Tangier disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th edn. vol. 2. (2001), McGraw-Hill, New York 2937-2960
5. Barohn R.J., Gronseth G.S., LeForce B.R., McVey A.L., McGuire S.A., Butzin C.A., and King R.B. Peripheral nervous system involvement in a large cohort of human immunodeficiency virus-infected individuals. Arch Neurol 50 (1993) 167-171
6. Beck M., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Houge G., Ramaswami U., Gal A., and Mehta A. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34 (2004) 838-844
7. Behse F., and Buchthal F. Alcoholic neuropathy: clinical, electrophysiological, and biopsy findings. Ann Neurol 2 (1977) 95-110
8. Bejaoui K., Wu C., Scheffler M.D., Haan G., Ashby P., Wu L., de Jong P., and Brown Jr. R.H. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 27 (2001) 261-262
9. Bennett G.J. The role of the sympathetic nervous system in painful peripheral neuropathy. Pain 45 (1991) 221-223
10. Bird S.J., and Sladky J.T. Corticosteroid-responsive dominantly inherited neuropathy in childhood. Neurol 41 (1991) 437-439
11. Bodzioch M., Orso E., Klucken J., Langmann T., Bottcher A., Diederich W., Drobnik W., Barlage S., Buchler C., Porsch-Ozcurumez M., Kaminski W.E., Hahmann H.W., Oette K., Rothe G., Aslanidis C., Lackner K.J., and Schmitz G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 22 (1999) 347-351
12. Bradley W.G., Shapshak P., Delgado S., Nagano I., Stewart R., and Rocha B. Morphometric analysis of the peripheral neuropathy of AIDS. Muscle Nerve 21 (1998) 1188-1195
13. Bressler A.M., Zimmer S.M., Gilmore J.L., and Somani J. Peripheral neuropathy associated with prolonged use of linezolid. Lancet Infect Dis 4 (2004) 528-531
14. Brooks-Wilson A., Marcil M., Clee S.M., Zhang L.H., Roomp K., van Dam M., Yu L., Brewer C., Collins J.A., Molhuizen H.O., Loubser O., Ouelette B.F., Fichter K., Ashbourne-Excoffon K.J., Sensen C.W., Scherer S., Mott S., Denis M., Martindale D., Frohlich J., Morgan K., Koop B., Pimstone S., Kastelein J.J., and Hayden M.R. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 22 (1999) 336-345
15. Browne M.J., Mayer K.H., Chafee S.B., Dudley M.N., Posner M.R., Steinberg S.M., Graham K.K., Geletko S.M., Zinner S.H., and Denman S.L. 2',3'-didehydro-3'-deoxythymidine (d4T) in patients with AIDS or AIDS-related complex: a phase I trial. J Infect Dis 167 (1993) 21-29
16. Chaudhry V., Eisenberger M.A., Sinibaldi V.J., Sheikh K., Griffin J.W., and Cornblath D.R. A prospective study of suramin-induced peripheral neuropathy. Brain 119 (1996) 2039-2052
17. Collins M.P., and Periquet M.I. Non-systemic vasculitic neuropathy. Curr Opin Neurol 17 (2004) 587-598
18. Collins M.P., Periquet M.I., Mendell J.R., Sahenk Z., Nagaraja H.N., and Kissel J.T. Nonsystemic vasculitic neuropathy: insights from a clinical cohort. Neurology 61 (2003) 623-630
19. Cornblath D.R., and McArthur J.C. Predominantly sensory neuropathy in patients with AIDS and AIDS-related complex. Neurology 38 (1988) 794-796
20. Cornblath D.R., McArthur J.C., Kennedy P.G., Witte A.S., and Griffin J.W. Inflammatory demyelinating peripheral neuropathies associated with human T-cell lymphotropic virus type III infection. Ann Neurol 21 (1987) 32-40
21. Coxon A., and Pallis C.A. Metronidazole neuropathy. J Neurol Neurosurg Psychiatry 39 (1976) 403-405
22. D'Amour M.L., and Butterworth R.F. Pathogenesis of alcoholic peripheral neuropathy: direct effect of ethanol or nutritional deficit?. Metab Brain Dis 9 (1994) 133-142
23. Dalakas M.C., Semino-Mora C., and Leon-Monzon M. Mitochondrial alterations with mitochondrial DNA depletion in the nerves of AIDS patients with peripheral neuropathy induced by 2'3'-dideoxycytidine (ddC). Lab Invest 81 (2001) 1537-1544
24. Dawkins J.L., Hulme D.J., Brahmbhatt S.B., Auer-Grumbach M., and Nicholson G.A. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27 (2001) 309-312
25. Dellagi K., Dupouey P., Brouet J.C., Billecocq A., Gomez D., Clauvel J.P., and Seligmann M. Waldenstrom's macroglobulinemia and peripheral neuropathy: a clinical and immunologic study of 25 patients. Blood 62 (1983) 280-285
26. Desnick R.J., Ioannou Y.A., and Eng C.M. α-Galactosidase A deficiency: Fabry disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. 8th edn. vol. 2 (2001), McGraw-Hill, New York 3733-3774
27. Dubinsky R.M., Yarchoan R., Dalakas M., and Broder S. Reversible axonal neuropathy from the treatment of AIDS and related disorders with 2',3'-dideoxycytidine (ddC). Muscle Nerve 12 (1989) 856-860
28. Dyck P.J. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck P.J., Thomas P.K., Griffin J.W., Low P.A., and Poduslo J.F. (Eds). Peripheral Neuropathy. 3rd edn. vol. 2 (1993), WB Saunders, Philadelphia 1065-1093
29. Dyck P.J., Ellefson R.D., Yao J.K., and Herbert P.N. Adult onset of Tangier disease: I. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. J Neuropath Exp Neurol 37 (1978) 119-137
30. Dyck P.J., Swanson C.J., Low P.A., Bartleson J.D., and Lambert E.H. Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc 57 (1982) 239-246
31. Dyck P.J., Low P.A., Stevens J.C.,. "Burning feet" as the only manifestation of dominantly inherited sensory neuropathy. Mayo Clin Proc 58 (1983) 426-429
32. Dyck P.J., Benstead T.J., Conn D.L., Stevens J.C., Windebank A.J., and Low P.A. Nonsystemic vasculitic neuropathy. Brain 110 (1987) 843-853
33. Dyck P.J., Chance P., Lebo R., and Carney J.A. Hereditary motor and sensory neuropathies. In: Dyck P.J., Thomas P.K., Griffin J.W., Low P.A., and Poduslo J.F. (Eds). Peripheral Neuropathy. 3rd edn. vol. 2 (1993), WB Saunders, Philadelphia 1094-1136
34. Engel W.K., Dorman J.D., Levy R.I., and Fredrickson D.S. Neuropathy in Tangier disease. Alpha-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. Arch Neurol 17 (1967) 1-9
35. Falk R.H., Comenzo R.L., and Skinner M. The systemic amyloidoses. N Engl J Med 337 (1997) 898-909
36. Fauci A.S. The vasculitis syndromes. In: Braunwald E., Fauci A.S., Kasper D.L., Hauser S.L., Longo D.L., and Jameson J.L. (Eds). Harrison's Principles of Internal Medicine (2001), McGraw-Hill, New York 1956-1968
37. Feldman R.G., Niles C.A., Kelly-Hayes M., Sax D.S., Dixon W.J., Thompson D.J., and Landau E. Peripheral neuropathy in arsenic smelter workers. Neurol 29 (1979) 939-944
38. Fuller G.N., Jacobs J.M., and Guiloff R.J. Axonal a trophy in the painful peripheral neuropathy in AIDS. Acta Neuropathol (Berl) 81 (1990) 198-203
39. Fullerton P.M., and Kremer M. Neuropathy after intake of thalidomide (Distaval). Br Med J 2 (1961) 855-858
40. Gardne -T.^C., and Benjamin S. Peripheral neuropathy after disulfiram administration. J Neurol Neurosurg Psychiatry 34 (1971) 253-259
41. Gertz M.A., Lacy M.Q., Gastineau D.A., Inwards D.J., Chen M.G., Tefferi A., Kyle R.A., and Litzow M.R. Blood stem cell transplantation as therapy for primary systemic amyloidosis (AL). Bone Marrow Transplant 26 (2000) 963-969
42. Gherardi R., Louarn F., Benvenuti C., Perrier M., Lejonc J.L., Schaeffer A., and Degos J.D. Peripheral neuropathy in patients treated with almitrine dimesylate. Lancet 1 (1985) 1247-1250
43. Gibbels E., Schaefer H.E., Runne U., Schroder J.M., Haupt W.F., and Assmann G. Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy Clinical, biochemical, electrophysiological, and morphological evaluation, includi electron microscopy of nerve, muscle, and skin biopsies. J Neurol 232: (1985) 283-294
44. Ginsberg L., Malik O., Kenton A.R., Sharp D., Muddle J.R., Davis M.B., Winer J.B., Orrell R.W., and King R.H.M. Co-existent hereditary and inflammatory neuropathy. Brain 127 (2004) 193-202
45. Ginsberg L., Valentine A., and Mehta A. Neurological rarity: Fabry disease. Pract Neurol 5 (2005) 110-113
46. Gorson K.C., and Ropper A.H. Idiopathic distal small fiber neuropathy. Acta Neurol Scand 92 (1995) 376-382
47. Griffin J.W., Cornblath D.R., Alexander E., Campbell J., Low P.A., Bird S., and Feldman E.L. Ataxic sensory neuropathy and dorsal root ganglionitis associated with Sjögren's syndrome. Ann Neurol 27 (1990) 304-315
48. 123I-labeled serum amyloid P component. N Engl J Med 323 (1990) 508-513
49. Hoffmann B., Garcia de Lorenzo A., Mehta A., Beck M., Widmer U., and Ricci R. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 42 (2005) 247-252
50. Holland N.R., Stocks A., Hauer P., Cornblath D.R., Griffin J.W., and McArthur J.C. Intraepidermal nerve fiber density in patients with painful sensory neuropathy. Neurol 48 (1997) 708-711
51. Holland N.R., Crawford T.O., Hauer P., Cornblath D.R., Griffin J., and McArthur J.C. Small-fiber sensory neuropathies: clinical course and neuropathology of idiopathic cases. Ann Neurol 44 (1998) 47-59
52. Houlden H., King R.H., Muddle J.R., Warner T.T., Reilly M.M., Orrell R.W., and Ginsberg L. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol 56 (2004) 586-590
53. Jaspan J.B., Wollman R.L., Bernstein L., and Rubenstein A.H. Hypoglycemic peripheral neuropathy in association with insulinoma: implication of glucopenia rather than hyperinsulinism. Case report and literature review. Medicine (Baltimore) 61 (1982) 33-44
54. Jebsen R.H., Tenckhoff H., and Honet J.C. Natural history of uremic polyneuropathy and effects of dialysis. N Engl J Med 277 (1967) 327-333
55. Joy R.J., Scalettar R., and Sodee D.B. Optic and peripheral neuritis. Probable effect of prolonged chloramphenicol therapy. JAMA 173 (1960) 1731-1734
56. Kaltreider H.B., and Talal N. The neuropathy of Sjögren's syndrome. Trigeminal nerve involvement. Ann Intern Med 70 (1969) 751-762
57. Kelleher T., Cross A., and Dunkle L. Relation of peripheral neuropathy to HIV treatment in four randomized clinical trials including didanosine. Clin Ther 21 (1999) 1182-1192
58. Kelly Jr. J.J., Kyle R.A., Miles J.M., O'Brien P.C., and Dyck P.J. The spectrum of peripheral neuropathy in myeloma. Neurology 31 (1981) 24-31
59. Khella S.L., Frost S., Hermann G.A., Leventhal L., Whyatt S., Sajid M.A., and Scherer S.S. Hepatitis C infection, cryoglobulinemia, and vasculitic neuropathy. Treatment with interferon alfa: case report and literature review. Neurol 45 (1995) 407-411
60. Kieburtz K.D., Seidlin M., Lambert J.S., Dolin R., Reichman R., and Valentine F. Extended follow-up of peripheral neuropathy in patients with AIDS and AIDS-related complex treated with dideoxyinosine. J Acquir Immune Defic Syndr 5 (1992) 60-64
61. Kieburtz K., Simpson D., Yiannoutsos C., Max M.B., Hall C.D., Ellis R.J., Marra C.M., McKendall R., Singer E., Dal Pan G.J., Clifford D.B., Tucker T., and Cohen B. A randomized trial of amitriptyline and mexiletine for painful neuropathy in HIV infection. AIDS Clinical Trial Group 242 Protocol Team. Neurology 51 (1998) 1682-1688
62. Kissel J.T., Collins M.P., and Mendell J.R. Vasculitic neuropathy. In: Mendell J.R., Kissel J.T., and Cornblath D.R. (Eds). Diagnosis and Management of Peripheral Nerve Disorders (2001), Oxford University Press, Oxford 202-232
63. Kocen R.S., and Thomas P.K. Peripheral nerve involvement in Fabry's disease. Arch Neurol (Chicago) 22 (1970) 81-88
64. Kyle R.A., Gertz M.A., Greipp P.R., Witzig T.E., Lust J.A., Lacy M.Q., and Therneau T.M. A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, prednisone, and colchicine. N Engl J Med 336 (1997) 1202-1207
65. Lipton R.B., Apfel S.C., Dutcher J.P., Rosenberg R., Kaplan J., Berger A., Einzig A.I., Wiernik P., and Schaumburg H.H. Taxol produces a predominantly sensory neuropathy. Neurology 39 (1989) 368-373
66. Logigian E.L. Peripheral nervous system Lyme borreliosis. Semin Neurol 17 (1997) 25-30
67. Luciano C.A., Russell J.W., Banerjee T.K., Quirk J.M., Scott L.J., Dambrosia J.M., Barton N.W., and Schiffmann R. Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve 26 (2002) 622-629
68. Marbini A., Gemignani F., Ferrarini G., Maccari S., Lucci B., Bragaglia M.M., Plancher C., and Vergani C. Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum. Acta Neuropathol (Berl) 67 (1985) 121-127
69. Martini R., and Toyka K.V. Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients. Lancet Neurol 3 (2004) 457-465
70. Matthews W.B. Sarcoidosis of the nervous system. J Neurol Neurosurg Psychiatry 28 (1965) 23-29
71. Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Ries M., and Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
72. Melgaard B., Hansen H.S., Kamieniecka Z., Paulson O.B., Pedersen A.G., Tang X., and Trojabörg W. Misonidazole neuropathy: a clinical, electrophysiological, and histological study. Ann Neurol 12 (1982) 10-17
73. Mellgren S.I., Conn D.L., Stevens J.C., and Dyck P.J. Peripheral neuropathy in primary Sjögren's syndrome. Neurology 39 (1989) 390-394
74. Morgan S.H., Rudge P., Smith S.J., Bronstein A.M., Kendall B.E., Holly E., Young E.P., Crawfurd M.D., and Bannister R. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency) - investigation of symptomatic and presymptomatic patients. QJM 75 (1990) 491-507
75. Moulignier A., Authier F.J., Baudrimont M., Pialoux G., Belec L., Polivka M., Clair B., Gray F., Mikol J., and Gherardi R.K. Peripheral neuropathy in human immunodeficiency virusinfected patients with the diffuse infiltrative lymphocytosis syndrome. Ann Neurol 41 (1997) 438-445
76. Moulin D.E., Hagen N., Feasby T.E., Amireh R., and Hahn A. Pain in Guillain-Barré syndrome. Neurology 48 (1997) 328-331
77. Newman L.S., Rose C.S., and Maier L.A. Sarcoidosis. N Engl J Med 336 (1997) 1224-1234
78. Nicholson G.A., Dawkins J.L., Blair I.P., Kennerson M.L., Gordon M.J., Cherryson A.K., Nash J., and Bananis T. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet 13 (1996) 101-104
79. Ochoa J.L. The human sensory unit and pain: new concepts, syndromes, and tests. Muscle Nerve 16 (1993) 1009-1016
80. Ohnishi A., and Dyck P.J. Loss of small peripheral sensory neurons in Fabry disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia and posterior columns. Arch Neurol 31 (1974) 120-127
81. Olivarius B.D. Polyneuropathy due to nitrofurantoin therapy. Ugeskr Laeg 118 (1956) 753-755
82. Polydefkis M., Yiannoutsos C.T., Cohen B.A., Hollander H., Schifitto G., Clifford D.B., Simpson D.M., Katzenstein D., Shriver S., Hauer P., Brown A., Haidich A.B., Moo L., and McArthur J.C. Reduced intraepidermal nerve fiber density in HIV-associated sensory neuropathy. Neurology 58 (2002) 115-119
83. Pomfret E.A., Lewis W.D., Jenkins R.L., Bergethon P., Dubrey S.W., Reisinger J., Falk R.H., and Skinner M. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation 65 (1998) 918-925
84. Rajkumar S.V., Gertz M.A., and Kyle R.A. Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy. Am J Med 104 (1998) 232-237
85. Reimann H.A., McKechnie W.G., and Stanisavljevic S. Hereditary sensory radicular neuropathy and other defects in a large family: reinvestigation after twenty years and report of a necropsy. Am J Med 25 (1958) 573-579
86. Ropper A.H., and Shahani B.T. Pain in Guillain-Barré syndrome. Arch Neurol 41 (1984) 511-514
87. Rust S., Rosier M., Funke H., Real J., Amoura Z., Piette J.C., Deleuze J.F., Brewer H.B., Duverger N., Denefle P., and Assmann G. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 22 (1999) 352-355
88. Sacktor N., Lyles R.H., Skolasky R., Kleeberger C., Selnes O.A., Miller E.N., Becker J.T., Cohen B., and McArthur J.C. HIV-associated neurologic disease incidence changes: Multicenter AIDS Cohort Study, 1990-1998. Neurol 56 (2001) 257-260
89. Said G. Perhexiline neuropathy: a clinicopathological study. Ann Neurol 3 (1978) 259-266
90. Said G. Leprous neuropathy. In: Mendell J.R., Kissel J.T., and Cornblath D.R. (Eds). Diagnosis and Management of Peripheral Nerve Disorders (2001), Oxford University Press, Oxford 561-564
91. Schiffmann R., Kopp J.B., Austin III H.A., Sabnis S., Moore D.F., Weibel T., Balow J.E., and Brady R.O. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
92. Schiffmann R., Floeter M.K., Dambrosia J.M., Gupta S., Moore D.F., Sharabi Y., Khurana R.K., and Brady R.O. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28 (2003) 703-710
93. Shlay J.C., Chaloner K., Max M.B., Flaws B., Reichelderfer P., Wentworth D., Hillman S., Brizz B., and Cohn DL.. Acupuncture and amitriptyline for pain due to HIV-related peripheral neuropathy: a randomized controlled trial. Terry Beirn Community Programs for Clinical Re. JAMA 280 (1998) 1590-1595
94. Simpson D.M., Olney R., McArthur J.C., Khan A., Godbold J., and Ebe -F.K. A placebo-controlled trial of lamotrigine for painful HIV-associated neuropathy. Neurology 54 (2000) 2115-2119
95. So Y.T., and Olney R.K. Acute lumbosacral polyradiculopathy in acquired immunodeficiency syndrome: experience in 23 patients. Ann Neurology 35 (1994) 53-58
96. Tatum W.O., and Zachariah S.B. Gabapentin treatment of seizures in acute intermittent porphyria. Neurology 45 (1995) 1216-1217
97. Tefferi A., Colgan J.P., and Solberg Jr. L.A. Acute porphyrias: diagnosis and management. Mayo Clin Proc 69 (1994) 991-995
98. Tyor W.R., Wesselingh S.L., Griffin J.W., McArthur J.C., and Griffin D.E. Unifying hypothesis for the pathogenesis of HIVassociated dementia complex, vacuolar myelopathy, and sensory neuropathy. J Acquir Immune Defic Syndr Hum Retrovirol 9 (1995) 379-388
99. Verhoeven K., De Jonghe P., Coen K., Verpoorten N., Auer-Grumbach M., Kwon J.M., FitzPatrick D., Schmedding E., De Vriendt E., Jacobs A., Van G.V., Wagner K., Hartung H.P., and Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 72 (2003) 722-727
100. Wells G.E.C. The natural history of neurosarcoidosis. Proc R Soc Med 60 (1967) 1172-1174
101. Worth C.T., and Hussein S.M.A. Peripheral neuropathy due to long term ingestion of allopurinol. Br Med J 291 (1985) 1688
102. Zuchner S., Sperfeld A.D., Senderek J., Sellhaus B., Hanemann C.O., and Schroder J.M. A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. Brain 126 (2003) 920-927