Genetic testing in inherited peripheral neuropathies

Journal of the Peripheral Nervous System

Volumn 10, Issue 1, 2005, Pages 77-84

  Klein, Christopher J ^a   Dyck, Peter J ^a  

^a MAYO CLINIC   (United States)

Author keywords

Charcot Marie Tooth; Genetic; Inherited; Metabolic; Neuropathy

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA TOCOPHEROL; CHENODEOXYCHOLIC ACID; PHYTANIC ACID; PHYTOL; RETINOL; VITAMIN K GROUP;

ATAXIA TELANGIECTASIA; BONE MARROW TRANSPLANTATION; CANCER SCREENING; CANCER SURGERY; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISORDERS OF PEROXISOMAL FUNCTIONS; DNA SEQUENCE; FAMILIAL AMYLOID POLYNEUROPATHY; GENE MUTATION; GENETIC SCREENING; GIANT AXON; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; LEUKODYSTROPHY; LIPOPROTEIN DEFICIENCY; LIVER TRANSPLANTATION; MASS SPECTROMETRY; NERVE BIOPSY; NEUROFIBROMATOSIS; NEUROLOGIC EXAMINATION; PERIPHERAL NEUROPATHY; PORPHYRIA; PRIORITY JOURNAL; REVIEW; XERODERMA PIGMENTOSUM;

ALGORITHMS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 14244263190     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1085-9489.2005.10111.x     Document Type: Review

References (22)

1. Bergen HR, Zeldenrust S, Snow D, Butz M, Thibodeau SN, Dyck PJ, Dyck PJB, Klein CJ, O'Brien J, Muddiman DC (2004). Clinical analysis of transthyretin variants. Clin Chem 50:1544-1552.
2. Brady RO, Schiffmann R (2005). Fabry's disease. In: Peripheral Neuropathy. Dyck PJ, Thomas PK (Eds). W.B. Saunders, Philadelphia, pp 1893-1904.
3. Burns TM, Ryan MM, Darras B, Jones HR Jr (2003). Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders. Mayo Clin Proc 78:858-868.
4. Charcot JM, Marie P (1886). Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 6:97-138.
5. Davidenkow S (1927). Uber die neurotische muskelatrophie Charcot Marie: Klinisch-Genetische studien. Z Ges Neurol Psychiatr 107:259-320.
6. Dyck PJ (1993). Neuronal atrophy and degeneration affecting primary sensory and autonomic neurons. In: Peripheral Neuropathy. Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (Eds). W.B. Saunders, Philadelphia, pp 1065-1093.
7. Dyck PJ (2002). Peripheral nerves. In: Greenfields Neuropathology. Graham DI, Lantos PL (Eds) (Chapter 9). Arnold, London, pp 551-675.
8. Dyck PJ, Chance P, Lebo R, Carney JA (1993). Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy. Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (Eds). W.B. Saunders, Philadelphia, pp 1094-1136.
9. Dyck PJ, Karnes JL, Lambert EH (2003). Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 39:1302-1308.
10. Dyck PJ, Oviatt KF, Lambert EH (1981). Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 10:222-226.
11. Eichorst U (1873). Ueber Heredtat de Progresiven Muskelatrophie. Berl Klin Wochenschr 10:497.
12. Freeman M, O'Neill GN (2005). Tangiers disease. In: Peripheral Neuropathy. Dyck PJ, Thomas PK (Eds). W.B. Saunders, Philadelphia, pp 1905-1920.
13. Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ (2004b). Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve 29:323-328.
14. Klein CJ, Dyck PJ (2005). Molecular genetics of HMSN II (CMT 2). In: Peripheral Neuropathy. Dyck PJ, Thomas PK (Eds). W.B. Saunders, Philadelphia, pp 1717-1752.
15. Klein CJ, Kim CM, Zeldenrust S, Dyck PJD, Bergen HR, O'Brien J, Nepomuceno AI, Thibodeau S, Butz B, Muddiman DC, Dyck PJ (2004a). Accurate and Expedited Diagnosis of Amyloidotic Transthyretin Neuropathy. American Neurologic Association, Toronto. Ann Neurol Abstract 71. (2004) 56 (Suppl 8): S29.
16. Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, Dyck PJB, Klein DM, Thibodeau S, Dyck PJ (2005). SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies. J Neurol Neurosurg Psychiatry (in press).
17. McKusick V (1998). Mendelian inheritance in man: http:// www3.ncbi.nlm.nih.gov/omim. Johns Hopkins University Press, Baltimore.
18. Reilly M (2005). Hereditary amyloid neuropathy. In: Peripheral Neuropathy. Dyck PJ, Thomas PK (Eds). W.B. Saunders, Philadelphia, pp 1921-1936.
19. Thomas P (1993). Other inherited neuropathies. In: Peripheral Neuropathies. Dyck P (Ed). Saunders, Philadelphia, pp 1194-1218.
20. Tooth HH (1886). The Peroneal Type of Progressive Muscular Atrophy. H.K. Lewis, London.
21. Virchow E (1855). Ein Fall von progressiven Muskelatrophie. Arch Pathol Anat 8:537.
22. Windebank AJ (2005). Porphyria. In: Peripheral Neuropathy. Dyck PJ, Thomas PK (Eds). W.B. Saunders, Philadelphia, pp 1883-1892.