Inherited Neuronal Atrophy and Degeneration Predominantly of Lower Motor Neurons

Peripheral Neuropathy

Volumn 2, Issue , 2005, Pages 1603-1621

  Harding, A E ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 34248655571     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-7216-9491-7.50071-5     Document Type: Chapter

References (116)

1. Aberfeld D.C., Namba T. Progressive ophthalmoplegia in Kugelberg-Welander disease. Arch. Neurol. 1969, 20:253.
2. Alexander M.P., Emery E.S., Koerner F.C. Progressive bulbar paresis in childhood. Arch. Neurol. 1976, 33:66.
3. Armstrong R.M., Fogelson M.H., Silberberg D.H. Familial proximal spinal muscular atrophy. Arch. Neurol. 1966, 14:208.
4. Bertini E., Gadisseux J.L., Palmieri G., et al. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am. J. Med. Genet. 1989, 33:328.
5. Brzustowicz L.M., Lehner T., Castilla L.H., et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990, 344:540.
6. Buchthal F., Olsen P.Z. Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 1970, 93:15.
7. Bundey S., Lovelace R.E. A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain 1975, 98:455.
8. Cao A., Cianchetti C., Calisti L., Tangheroni W. A family of juvenile proximal spinal muscular atrophy with dominant inheritance. J. Med. Genet. 1976, 13:131.
9. Clarke A., Davies K.E., Gardner-Medwin D., et al. Xp21 DNA probe in diagnosis of muscular dystrophy and spinal muscular atrophy. Lancet 1989, 1:443.
10. Davidenkow S. Über die neurotische Muskelatrophie Charcot-Marie: Klinisch-genetische studien. Z. Ges. Neurol. Psychiat. 1927, 107:259.
11. Davidenkow S. Scapuloperoneal amyotrophy. Arch. Neurol. Psychiatry 1939, 41:694.
12. Davis C.J.F., Bradley W.G., Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. J. Génét. Hum. 1978, 26:311.
13. Drachman D.B., Murphy S.R., Nigam M.P., Hill J.R. quot;Myopathic" changes in chronically denervated muscle. Arch. Neurol. 1967, 16:14.
14. Dubowitz V. Infantile muscular atrophy: a prospective study with particular reference to a slowly progressive variety. Brain 1964, 87:707.
15. Dubowitz V. The floppy infant-a practical approach to classification. Dev. Med. Child Neurol. 1968, 10:706.
16. Dubowitz V. Muscle Disorders in Childhood 1978, 149. W. B. Saunders, Philadelphia.
17. Dubowitz V., Brooke M. Muscle Biopsy: A Modern Approach 1973, 105. W. B. Saunders, Philadelphia.
18. 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, 18:619.
19. Emery A.E.H. Review: the nosology of the spinal muscular atrophies. J. Med. Genet. 1971, 8:481.
20. Emery A.E.H., Hausmanowa-Petrusewicz I., Davie A.M., et al. International collaborative study of the spinal muscular atrophies. Part I. J. Neurol. Sci. 1976, 29:83.
21. Emery A.E.H., Hausmanowa-Petrusewicz I., Davie A.M., et al. International collaborative study of the spinal muscular atrophies. Part II. J. Neurol. Sci. 1976, 30:375.
22. Emery E.S., Fenichel G.M., Engel G. A spinal muscular atrophy with scapuloperoneal distribution. Arch. Neurol. 1968, 18:129.
23. Fazio M. Ereditarietà della paralisi bulbare progressiva. Riforma Med. 1892, 8:327.
24. Feigenbaum J.A., Munsat T.L. A neuromuscular syndrome of scapuloperoneal distribution. Bull. Los Angeles Neurol. Soc. 1970, 35:47.
25. Fenichel G.M., Emery E.S., Hunt P. Neurogenic atrophy simulating facioscapulohumeral dystrophy. Arch. Neurol. 1967, 17:257.
26. Fischbeck K.H., Ionasescu V., Ritter A.W., et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology 1986, 36:1595.
27. FurGBRawa T., Akagami N., Maruyama S. Chronic neurogenic quadriceps amyotrophy. Ann. Neurol. 1977, 2:528.
28. FurGBRawa T., Toyokura Y. Chronic spinal muscular atrophy of facioscapulohumeral type. J. Med. Genet. 1976, 13:285.
29. Gallai V., Hockaday J.M., Hughes J.T., et al. Ponto-bulbar palsy with deafness (Brown-Vialetto-van Laere syndrome): a report on 3 cases. J. Neurol. Sci. 1981, 50:250.
30. Gamstorp I. Progressive spinal muscular atrophy with onset in infancy or early childhood. Acta Paediatr. Scand. 1967, 56:408.
31. Gardner-Medwin D., Hudgson P., Walton J.N. Benign spinal muscular atrophy arising in childhood and adolescence. J. Neurol. Sci. 1967, 5:121.
32. Gilgoff I.S., Kahlstrom E., MacLaughlin E., Keens T.G. Long-term ventilatory support in spinal muscular atrophy. J. Pediatr. 1989, 115:904.
33. Gilliam T.C., Brzustowicz L.M., Castilla L.H., et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990, 345:823.
34. Gomez M.R., Clermont V., Berstein J. Progressive bulbar paralysis in childhood (Fazio-Londé disease). Arch. Neurol. 1962, 6:317.
35. Greenberg F., Fenolio K.R., Hejtmancik J.F., et al. X-linked infantile spinal muscular atrophy. Am. J. Dis. Child. 1988, 142:217.
36. Harding A.E., Bradbury P.G., Murray N.M.F. Chronic asymmetrical spinal muscular atrophy. J. Neurol. Sci. 1983, 59:69.
37. Harding A.E., Thomas P.K. Hereditary distal spinal muscular atrophy: a report on 34 cases and a review of the literature. J. Neurol. Sci. 1980, 45:337.
38. Harding A.E., Thomas P.K., Baraitser M., et al. X-linked recessive bulbo-spinal neuronopathy: a report of ten cases. J. Neurol. Neurosurg. Psychiatry 1982, 45:1012.
39. Hausmanowa-Petrusewicz I. Electrophysiological findings in childhood spinal muscular atrophies. Rev. Neurol. (Paris) 1988, 144:716.
40. Hausmanowa-Petrusewicz I., Askanas W., Badurska B. Infantile and juvenile spinal muscular atrophy. J. Neurol. Sci. 1968, 6:269.
41. Hausmanowa-Petrusewicz I., Zaremba J., Borkowska J. Chronic form of childhood spinal muscular atrophy: are the problems of its genetics really solved?. J. Neurol. Sci. 1979, 43:313.
42. Hausmanowa-Petrusewicz I., Zaremba J., Borkowska J. Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. J. Med. Genet. 1985, 22:350.
43. Hausmanowa-Petrusewicz I., Zaremba J., Borkowska J., Prot J. Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy. J. Neurol. 1976, 213:335.
44. Hawkins S.A., Nevin N.C., Harding A.E. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with possible autosomal dominant inheritance. J. Med. Genet. 1990, 27:176.
45. Hoffmann J. Über chronische spinal Muskelatrophie im Kindesalter, auf familiärer Basis. Dtsch. Z. Nervenheilkd. 1893, 3:427.
46. Hurwitz L., Lapresle J., Garcin R. Atrophie musculaire neurogene de topographie proximale et symmetrique simulant une myopathie: étude de deux observations. Rev. Neurol. (Paris) 1961, 104:97.
47. Kaeser H.E. Scapuloperoneal muscular atrophy. Brain 1965, 88:407.
48. Kennedy W.R., Alter M., Sung J.H. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology (Minneap.) 1968, 18:671.
49. Kondo K., Tsubaki T., Sakamoto F. The RyGBRyuan muscular atrophy: an obscure heritable disease found in the islands of southern Japan. J. Neurol. Sci. 1970, 11:359.
50. Jagganathan K. Juvenile motor neurone disease. Tropical Neurology 1973, 127. Oxford University Press, London. J.D. Spillane (Ed.).
51. Kugelberg E., Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch. Neurol. Psychiatry 1956, 75:500.
52. La Spada A.R., Wilson E.M., Lubahn D.B., et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77.
53. Lander C.M., Eadie M.J., Tyrer J.H. Hereditary motor peripheral neuropathy predominantly affecting the arms. J. Neurol. Sci. 1976, 28:389.
54. Londe P. Paralysie bulbaire progressive infantile et familiale. Rev. Mèd. 1894, 14:212.
55. Lugaresi E., Gambetti P., Rossi P.G. Chronic neurogenic muscle atrophies of infancy: their nosological relationship with Werdnig-Hoffmann's disease. J. Neurol. Sci. 1966, 3:399.
56. Magee K.R., de Jong R.N. Neurogenic muscular atrophy simulating muscular dystrophy. Arch. Neurol. 1960, 2:677.
57. Matawari S., Katayama K. Scapulo-peroneal muscular atrophy with cardiopathy. Arch. Neurol. 1973, 28:55.
58. Matsunaga M., Inokuchi T., Ohnishi A., Kuroiwa Y. Oculopharyngeal involvement in familial neurogenic muscular atrophy. J. Neurol. Neurosurg. Psychiatry 1973, 36:104.
59. McLeod J.G., Prineas J.W. Distal type of chronic spinal muscular atrophy-clinical, electrophysiological and pathological studies. Brain 1971, 94:703.
60. Meadows J.C., Marsden C.D. A distal form of chronic spinal muscular atrophy. Neurology (Minneap.) 1969, 19:53.
61. Meadows J.C., Marsden C.D. Scapuloperoneal amyotrophy. Arch. Neurol. 1969, 20:9.
62. Meadows J.C., Marsden C.D., Harriman D.G.F. Chronic spinal muscular atrophy in adults. Part 1. The Kugelberg-Welander syndrome. J. Neurol. Sci. 1969, 9:527.
63. Meadows J.C., Marsden C.D., Harriman D.G.F. Chronic spinal muscular atrophy in adults. Part 2. Other forms. J. Neurol. Sci. 1969, 9:551.
64. Melki J., Abdelhak S., Sheth P., et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990, 344:767.
65. Melki J., Sheth P., Abdelhak S., the French Spinal Muscular Atrophy Investigators, et al. Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990, 336:271.
66. Mercelis R., Demeester J., Martin J.J. Neurogenic scapuloperoneal syndrome in childhood. J. Neurol. Neurosurg. Psychiatry 1980, 43:888.
67. Merlini L., Granata C., Bonfiglioli S., et al. Scoliosis in spinal muscular atrophy: natural history and management. Dev. Med. Child Neurol. 1989, 31:501.
68. Mikol J., Bourdarias H., Dellanave J., Perie G. Familial bulbospinal atrophy in adults. Rev. Neurol. (Paris) 1988, 144:748.
69. Munsat T.L. Infantile scapuloperoneal muscular atrophy. Neurology (Minneap.) 1968, 18:285.
70. Munsat T.L., Woods R., Fowler W., Pearson C.M. Neurogenic muscular atrophy of infancy with prolonged survival. Brain 1969, 92:9.
71. Namba L., Aberfeld D.C., Grob D. Chronic proximal spinal muscular atrophy. J. Neurol. Sci. 1970, 11:401.
72. Nelson J.W., Amick L.D. Heredofamilial progressive spinal muscular atrophy: a clinical and electromyographic study of a kinship. Neurology 1966, 16:306.
73. O'Sullivan D.G., McLeod J.G. Distal chronic spinal muscular atrophy involving the hands. J. Neurol. Neurosurg. Psychiatry 1978, 41:653.
74. Palmer H.D. Familial scapuloperoneal amyotrophy. Arch. Neurol. Psychiatry 1932, 28:473.
75. Parnes S., Karpati G., Carpenter S., et al. Hexosaminidase A deficiency presenting as atypical juvenile-onset spinal muscular atrophy. Arch. Neurol. 1985, 42:1176.
76. Pearn J.H. Fetal movements and Werdnig-Hoffmann disease. J. Neurol. Sci. 1973, 18:373.
77. Pearn J.H. The gene frequency of acute Werdnig-Hoffmann disease (SMA type I): a total population survey in North-East England. J. Med. Genet. 1973, 10:260.
78. Pearn J.H. Autosomal dominant spinal muscular atrophy: a clinical and genetic study. J. Neurol. Sci. 1978, 38:263.
79. Pearn J.H. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet. 1978, 15:409.
80. Pearn J.H. Classification of the spinal muscular atrophies. Lancet 1980, 1:919.
81. Pearn J.H., Bundey S., Carter C.O., et al. A genetic study of subacute and chronic spinal muscular atrophy in childhood: a nosological analysis of 124 index patients. J. Neurol. Sci. 1978, 37:227.
82. Pearn J.H., Carter C.O., Wilson J. The genetic identity of acute infantile spinal muscular atrophy. Brain 1973, 96:463.
83. Pearn J.H., Gardner-Medwin D., Wilson J. A clinical study of chronic and childhood spinal muscular atrophy: a review of 141 cases. J. Neurol. Sci. 1978, 38:23.
84. Pearn J.H., Hudgson P. Anterior horn cell degeneration and gross calf hypertrophy with adolescent onset. Lancet 1978, 1:1059.
85. Pearn J.H., Hudgson P. Distal spinal muscular atrophy-a clinical and genetic study of 8 kindreds. J. Neurol. Sci. 1979, 43:183.
86. Pearn J.H., Hudgson P., Walton J.N. A clinical and genetic study of adult-onset spinal muscular atrophy: the autosomal recessive form as a discrete disease entity. Brain 1978, 101:591.
87. Pearn J.H., Wilson J. Acute Werdnig-Hoffmann disease (acute infantile spinal muscular atrophy). Arch. Dis. Child. 1973, 48:425.
88. Pearn J.H., Wilson J. Chronic generalized spinal muscular atrophy of infancy and childhood. Arch. Dis. Child. 1973, 48:768.
89. Pestronk A., Chaudhry V., Feldman E.L., et al. Lower motor neuron syndromes defined by patterns of weakness, nerve conduction abnormalities, and high titers of antiglycolipid anti-bodies. Ann. Neurol. 1990, 27:316.
90. Peters H.A., Opitz J.M., Goto I., Reese H.H. The benign proximal spinal progressive muscular atrophies. Acta Neurol. Scand. 1968, 44:542.
91. Pouget J. Amyotrophies scapulo-péronières chroniques de type stark-Kaeser (à propos de 10 observations). Rev. Neurol. (Paris) 1976, 132:823.
92. Ricker K., Mertens H.G., Schimrigk K. The neurogenic scapulo-peroneal syndrome. Eur. Neurol. 1968, 1:257.
93. Ringel S.P., Lava N.S., Treihaft M.M., et al. Late-onset X-linked recessive spinal and bulbar muscular atrophy. Muscle Nerve 1978, 1:297.
94. Schuchmann L. Spinal muscular atrophy of the scapulo-peroneal type. Z. Kinderheilkd. 1970, 109:118.
95. Schwartz M.S., Swash M. Scapulo-peroneal atrophy with sensory involvement: Davidenkow's syndrome. J. Neurol. Neurosurg. Psychiatry 1975, 38:1063.
96. Serratrice G., Roux H., Aquaron R., et al. Myopathies scapulo-péroniéres. (A propos de 14 observations dont 8 avec atteinte faciale). Sem. Hp. Paris 1969, 45:2678.
97. Singh N., Sachdev K., Susheela A.K. Juvenile muscular atrophy localized to arms. Arch. Neurol. 1980, 37:297.
98. Smith J.B., Patel A. The Wohlfart-Kugelberg-Welander disease. Neurology 1965, 15:469.
99. Sobue G., Hashizume Y., MGBRai E., et al. X-linked recessive bulbospinal neuronopathy: a clinico-pathological study. Brain 1989, 112:209.
100. Sobue I., Saito N., Iida M., Ando K. Juvenile type of distal and segmental muscular atrophy of upper extremities. Ann. Neurol. 1978, 3:429.
101. Spiro A.J., Fogelson M.H., Goldberg A.C. Microcephaly and mental subnormality in chronic progressive spinal muscular atrophy of childhood. Dev. Med. Child Neurol. 1967, 9:594.
102. Stefanis C., Papapetropoulos T., Scarpalezos S., et al. X-linked spinal and bulbar muscular atrophy of late-onset. J. Neurol. Sci. 1975, 24:493.
103. Summers B.A., Swash M., Schwartz M.S., Ingram D.A. Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetto-van Laere syndrome or Madras-type motor neuron disease?. J. Neurol. 1987, 234:440.
104. Thomas P.K. Discussion on the scapuloperoneal syndrome. Peroneal Atrophies and Related Disorders 1979, 230. Masson, New York. G. Serratrice, H. Roux (Eds.).
105. Tohgi H., TsGBRagoshi H., Toyokura Y. Neurogenic scapuloperoneal syndrome with autosomal recessive inheritance. Clin. Neurol. (Tokyo) 1971, 11:215.
106. TsGBRagoshi H., Nakanishi T., Kondo K., Tsubaki T. Hereditary proximal neurogenic muscular atrophy in adult. Arch. Neurol. 1965, 12:597.
107. TsGBRagoshi H., Shoji H., FurGBRawa T. Proximal neurogenic atrophy in adolescence and adulthood with X-linked recessive inheritance-Kugelberg-Welander disease and its variant of late onset in one pedigree. Neurology (Minneap.) 1970, 20:1188.
108. TsGBRagoshi H., Sugita H., FurGBRawa T., et al. Kugelberg-Welander syndrome with dominant inheritance. Arch. Neurol. 1966, 14:378.
109. Van Laere J. Paralysie bulbo-pontine chronique progressive familiale avec surdité. Rev. Neurol. (Paris) 1966, 115:289.
110. Vialetto E. Contributo alla forma ereditaria della paralisi bulbare progressiva. Riv. Sper. Fren. 1936, 40:1.
111. Werdnig G. Zwei frühinfantile hereditäre Fälle von progressiven Muskelatrophie unter dem Bilder der Dystrophie, uber auf neurotischer Grundlage. Arch. Psychiat. 1891, 22:437.
112. Wohlfart G., Fex J., Eliasson S. Hereditary proximal spinal muscular atrophy: a clinical entity simulating progressive muscular dystrophy. Acta Psychiatr. Neurol. Scand. 1955, 30:395.
113. Young I.D., Harper P.S. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J. Neurol. Neurosurg. Psychiatry 1980, 43:413.
114. Zellweger H., Schneider D.R., Schuldt D.R., Mergner W. Heritable spinal muscular atrophies. Helv. Paediatr. Acta 1969, 24:92.
115. Zellweger H., Simpson J., McCormick W.F., Ionasescu V. Spinal muscular atrophy with autosomal dominant inheritance. Neurology (Minneap.) 1972, 22:957.
116. Zerres K. Genetics of proximal spinal muscular atrophies. Current Concepts in Childhood Spinal Muscular Atrophy 1989, 69. Springer, Vienna. L. Merlini, C. Granata, V. Dubowitz (Eds.).