A new type of hereditary motor and sensory neuropathy linked to chromosome 3

Annals of Neurology

Volumn 41, Issue 6, 1997, Pages 771-780

  Takashima, Hiroshi ^a,b   Nakagawa, Masanori ^a   Nakahara, Keiichi ^a   Suehara, Masahito ^a   Matsuzaki, Toshio ^a,b   Higuchi, Itsuro ^a   Higa, Hidemasa ^c   Arimura, Kimiyoshi ^a   Iwamasa, Teruo ^d   Izumo, Shuji ^a   Osame, Mitsuhiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b National Hospital Organization Okinawa National Hospital   (Japan)

^c Naha City Hospital   (Japan)

^d UNIVERSITY OF THE RYUKYUS   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DNA MARKER;

ADULT; AGED; AREFLEXIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 3P; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; FAMILY; FASCICULATION; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; JAPAN; MALE; MUSCLE CRAMP; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 3; DIABETES MELLITUS, TYPE 2; ELECTROPHYSIOLOGY; FEMALE; GLUCOSE INTOLERANCE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLES; PEDIGREE; SENSATION DISORDERS;

EID: 15644377763     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410613     Document Type: Article

References (49)

1. Tyler HR, Shefner J. Amyotrophic lateral sclerosis. In: de Jong JMBV, ed. Handbook of clinical neurology, vol 15 (59): diseases of the motor system. Amsterdam: Elsevier Science, 1991: 169-215
2. Mulder DW, Kurland LT, Offord KP, Beard CM. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986;36:511-517
3. Horton WA, Eldridge R, Brody JA. Familial motor neuron disease. Evidence for at least three different types. Neurology 1976;26:460-465
4. Swash M, Leigh N, European FALS Collaborative Group. Criteria for diagnosis of familial amyotrophic lateral sclerosis. Neuromusc Disord 1992;2:7-9
5. Metcalf CW, Hirano A. Amyotrophic lateral sclerosis: clinicopathological studies of a family. Arch Neurol 1971;24:518-523
6. Williams DB. Familial amyotrophic lateral sclerosis. In: de Jong JMBV, ed. Handbook of clinical neurology, vol 15(59): diseases of the motor system. Amsterdam: Elsevier Science, 1991:241-251
7. Pearn J. Classification of spinal muscular atrophies. Lancet 1980;1:919-922
8. Emery AEH. Review: the nosology of the spinal muscular atrophies. J Med Genet 1971;8:481-495
9. Pearn J. Autosomal dominant spinal muscular atrophy. J Neurol Sci 1978;38:263-275
10. International SMA Collaboration members. Workshop report: International SMA Collaboration. Neuromusc Disord 1991; 1:81
11. Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, Thomas PK, Griffin JW, et al, eds. Peripheral neuropathy. 3rd ed. Philadelphia: WB Saunders, 1993:1051-1064
12. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al, eds. Peripheral neuropathy. 3rd ed. Philadelphia: WB Saunders, 1993:1094-1136
13. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron disease with peroneal muscular atrophy: I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-618
14. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron disease with peroneal muscular atrophy: II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625
15. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103: 259-280
16. Dyck PJ, Litchy WJ, Minnerath S, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994;35:608-615
17. Vogel P, Gabriel M, Goebel HH, Dyck PJ. Hereditary motor sensory neuroparhy type II with neurofilament accumulation: new finding or new disorder? Ann Neurol 1985;17:455-461
18. Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996;46: 569-571
19. Berciano J, Combarros O, Figols J, et al. Hereditary motor and sensory neuropathy type II: Clinicopathological study of a family. Brain 1986;109:897-914
20. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 1968;18:671-680
21. Nagashima T, Seko K, Hirose K, et al. Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome): autopsy case report of two brothers. J Neurol Sci 1988;87:141-152
22. Guidetti D, Motti L, Marcello N, et al. Kennedy disease in an Italian kindred. Eur Neurol 1986;25:188-196
23. Rietschel M, Rudnik-Schöneborn S, Zerres K. Clinical variability of autosomal dominant spinal muscular atrophy. J Neurol Sci 1992;107:65-73
24. Zellweger H, Simpson J, McCormick WF, Ionasescu V. Spinal muscular atrophy with autosomal dominant inheritance: report of new kindred. Neurology 1972;22:957-963
25. Tsukagoshi H, Nakanishi T, Kondo K, Tsubaki T. Hereditary proximal neurogenic muscular atrophy in adult. Arch Neurol 1965;12:597-603
26. Armstrong RM, Fogelson MH, Silberberg DH. Familial proximal spinal muscular atrophy. Arch Neurol 1966;14:208-212
27. Quarfordt SH, De Vivo DC, Engel WK, et al. Familial adultonset proximal spinal muscular atrophy: report of a family with type II hyperlipoproteinemia. Arch Neurol 1970;22:541-549
28. Marshall A, Duchen LW. Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 1975;26:349-359
29. Vance JM, Nicholson GA, Yamaoka LH, et al. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol 1989;104:186-189
30. Guiloff RJ, Thomas PK, Contreras M, et al. Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. J Neurol Neurosurg Psychiatry 1982;45:669-674
31. 0 gene. Nature Genet 1993;5:31-34
32. Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992;1:159-162
33. 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 1993;5: 266-268
34. Roa BB, Dyck PJ, Marks HG, et al. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet 1993;5:269-273
35. Ben Othmane K, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth type 2 to chromosome 1p and evidence for genetic heterogeneity. Genomics 1993;17:370-375
36. Kwon JM, Elliott JL, Yee W, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;57:853-858
37. Ionasescu VV, Trofatter J, Haines JL, et al. Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet 1991;48:1075-1083
38. Bergoffen J, Trofatter J, Pericak-Vance MA, et al. Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 1993;52:312-318
39. Kimura J. Electrodiagnosis in disease of nerve and muscle. 2nd ed. Philadelphia: FA Davis, 1989
40. Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nature Genet 1994;7:246-339
41. Lathrop GM, Lalouel J. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36: 460-465
42. Terwilliger JD, Ott J. Linkage disequilibrium and disease loci. In: Handbook of human genetic linkage. Baltimore: Johns Hopkins University Press, 1994:199-210
43. Kondo K, Tsubaki T, Sakamoto F. The Ryukyuan muscular atrophy: an obscure heritable neuromuscular disease found in the islands of Southern Japan. J Neurol Sci 1970;11:359-382
44. Siddique T, Figlewicz DA, Pericak-Vance MA, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 1991;324:1381-1384
45. Deng H-X, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu, Zn Superoxide dismutase. Science 1993:261:1047-1051
46. La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79
47. Morrison PJ, Graham CA, Nevin NC. Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95 and D4S111 in Northern Ireland. J Med Genet 1993;30:1018-1019
48. Neville CE, Mahadevan MS, Barcelo JM, Korneluk G. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet 1994;3:45-51
49. Oudet C, Mornet E, Serre JL, et al. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet 1993;52:297-304