Unusual Peripheral Neuropathies. Part III: Intrinsic Inherited Causes

ABSTRACT

Peripheral neuropathy is common and has many different etiologies. This is the last of three articles that review the less-common causes of peripheral neuropathy. Part III reviews the genetically coded causes of peripheral neuropathy, including those related to amyloidosis, neoplasm, paraproteinemias, as well as autosomal dominant, autosomal recessive, and x-linked causes. The extrinsic causes of neuropathy and the reactive or induced causes of neuropathy are covered in separate articles, Part I and Part II, respectively. The brief series reviews unusual causes of neuropathy and describes common presentations and the constellation of clinical findings. The goal is to help the clinician increase the diagnostic yield when sorting out the unusual causes of peripheral neuropathy.

Peripheral neuropathy - neuropathy - amyloidosis - paraneoplastic - paraproteinemia - inherited neuropathy

REFERENCES

• 1 Baldereschi M, Inzitari M, Di Carlo A, Farchi G, Scafato E, Inzitari D. ILSA Working Group . Epidemiology of distal symmetrical neuropathies in the Italian elderly.  Neurology. 2007;  68(18) 1460-1467
• 2 Martyn C N, Hughes R A. Epidemiology of peripheral neuropathy.  J Neurol Neurosurg Psychiatry. 1997;  62(4) 310-318
• 3 Planté-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy.  Curr Opin Neurol. 2000;  13(5) 569-573
• 4 Adams D. Hereditary and acquired amyloid neuropathies.  J Neurol. 2001;  248(8) 647-657
• 5 Benson M D, Kincaid J C. The molecular biology and clinical features of amyloid neuropathy.  Muscle Nerve. 2007;  36(4) 411-423
• 6 Honnorat J, Antoine J C. Paraneoplastic neurological syndromes.  Orphanet J Rare Dis. 2007;  2 22
• 7 Darnell R B, Posner J B. Paraneoplastic syndromes involving the nervous system.  N Engl J Med. 2003;  349(16) 1543-1554
• 8 Greenlee J E, Boyden J W, Pingree M, Brashear H R, Clawson S A, Keeney P M. Antibody types and IgG subclasses in paraneoplastic neurological syndromes.  J Neurol Sci. 2001;  184(2) 131-137
• 9 Antoine J C, Mosnier J F, Absi L, Convers P, Honnorat J, Michel D. Carcinoma associated paraneoplastic peripheral neuropathies in patients with and without anti-onconeural antibodies.  J Neurol Neurosurg Psychiatry. 1999;  67(1) 7-14
• 10 Keime-Guibert F, Napolitano M, Delattre J Y. Neurological complications of radiotherapy and chemotherapy.  J Neurol. 1998;  245(11) 695-708
• 11 Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.  Lancet Neurol. 2009;  8(7) 654-667
• 12 Dyck P J, Lambert E H. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.  Arch Neurol. 1968;  18(6) 619-625
• 13 Albers J W, Fink J K. Porphyric neuropathy.  Muscle Nerve. 2004;  30(4) 410-422
• 14 Macalpine I, Hunter R, Rimington C. Porphyria in the royal houses of Stuart, Hanover, and Prussia. A follow-up study of George 3d's illness.  BMJ. 1968;  1(5583) 7-18
• 15 Pischik E, Kazakov V, Kauppinen R. Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?.  J Neurol. 2008;  255(7) 974-979
• 16 Flügel K A, Druschky K F. Electromyogram and nerve conduction in patients with acute intermittent porphyria.  J Neurol. 1977;  214(4) 267-279
• 17 Di Donato S. Multisystem manifestations of mitochondrial disorders.  J Neurol. 2009;  256(5) 693-710
• 18 McFarland R, Turnbull D M. Batteries not included: diagnosis and management of mitochondrial disease.  J Intern Med. 2009;  265(2) 210-228
• 19 Vital C, Deminière C, Bourgouin B, Lagueny A, David B, Loiseau P. Waldenström's macroglobulinemia and peripheral neuropathy: deposition of M-component and kappa light chain in the endoneurium.  Neurology. 1985;  35(4) 603-606
• 20 Dyck P J, Oviatt K F, Lambert E H. Intensive evaluation of referred unclassified neuropathies yields improved diagnosis.  Ann Neurol. 1981;  10(3) 222-226
• 21 Gertz M A, Fonseca R, Rajkumar S V. Waldenström's macroglobulinemia.  Oncologist. 2000;  5(1) 63-67
• 22 Levine T, Pestronk A, Florence J et al.. Peripheral neuropathies in Waldenström's macroglobulinaemia.  J Neurol Neurosurg Psychiatry. 2006;  77(2) 224-228
• 23 Dimopoulos M A, Panayiotidis P, Moulopoulos L A, Sfikakis P, Dalakas M. Waldenström's macroglobulinemia: clinical features, complications, and management.  J Clin Oncol. 2000;  18(1) 214-226
• 24 Ropper A H, Gorson K C. Neuropathies associated with paraproteinemia.  N Engl J Med. 1998;  338(22) 1601-1607
• 25 Fisher M A, Wilson J R. Characterizing neuropathies associated with monoclonal gammopathy of undetermined significance (MGUS): a framework consistent with classifying injuries according to fiber size.  Neurol Clin Neurophysiol. 2002;  2002(3) 2-7
• 26 Suarez G A, Kelly Jr J J. Polyneuropathy associated with monoclonal gammopathy of undetermined significance: further evidence that IgM-MGUS neuropathies are different than IgG-MGUS.  Neurology. 1993;  43(7) 1304-1308
• 27 George E D, Sadovsky R. Multiple myeloma: recognition and management.  Am Fam Physician. 1999;  59(7) 1885-1894
• 28 Créange A, Chater A, Brouet J C et al.. A case of POEMS syndrome treated by autologous hematopoietic stem-cell transplantation.  Nat Clin Pract Neurol. 2008;  4(12) 686-691
• 29 Scarlato M, Previtali S C, Carpo M et al.. Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.  Brain. 2005;  128(Pt 8) 1911-1920
• 30 Ferri C. Mixed cryoglobulinemia.  Orphanet J Rare Dis. 2008;  3 25
• 31 Nemni R, Sanvito L, Quattrini A, Santuccio G, Camerlingo M, Canal N. Peripheral neuropathy in hepatitis C virus infection with and without cryoglobulinaemia.  J Neurol Neurosurg Psychiatry. 2003;  74(9) 1267-1271
• 32 Camdessanche J P, Antoine J C, Honnorat J et al.. Paraneoplastic peripheral neuropathy associated with anit-Hu antibodies. A clinical and electrophysiological study of 20 patients.  Brain. 2002;  125(Pt 1) 166-175
• 33 Antoine J C, Honnorat J, Camdessanche J P et al.. Paraneoplastic anti-CV2 antibodies react with peripheral nerve and are associated with a mixed axonal and demyelinating peripheral neuropathy.  Ann Neurol. 2001;  49(2) 214-221
• 34 Lahrmann H, Albrecht G, Drlicek M et al.. Acquired neuromyotonia and peripheral neuropathy in a patient with Hodgkin's disease.  Muscle Nerve. 2001;  24(6) 834-838
• 35 Low P A, Vernino S, Suarez G. Automatic dysfunct on in peripheral nerve disease.  Muscle Nerve. 2003;  27(6) 646-661