Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration

Neurology

Volumn 49, Issue 6, 1997, Pages 1598-1604

  Bandmann, O ^a   Sweeney, M G ^a   Daniel, S E ^a   Wenning, G K ^a   Quinn, N ^a   Marsden, C D ^a   Wood, N W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CILIARY NEUROTROPHIC FACTOR; SOMATOMEDIN C;

ADULT; AGED; ARTICLE; BRAIN ATROPHY; CELL LOSS; DISEASE ASSOCIATION; DOPAMINERGIC NERVE CELL; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MALE; OXIDATIVE STRESS; PRIORITY JOURNAL; SHY DRAGER SYNDROME; SPINOCEREBELLAR DEGENERATION;

EID: 0031454722     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.6.1598     Document Type: Article

References (73)

1. Quinn N. Multiple system atrophy. In: Marsden C, Fahn S, ed. Movement disorders 3. London: Butterworth-Heinemann, 1994:262-281.
2. Wenning G, Tison F, Elliott L, Quinn N, Daniel S. Olivopontocerebellar pathology in multiple system atrophy. Mov Disord 1996;11:157-162.
3. Daniel S. The neuropathology and neurochemistry of multiple system atrophy. In: Bannister R, Mathias C, ed. Autonomic failure: a textbook of clinical disorders of the autonomic nervous system. Oxford: Oxford University Press, 1992:564-585.
4. Fearnley J, Lees A. Striatonigral degeneration. Brain 1990; 113:1823-1842.
5. Lantos P, Papp M. Cellular pathology of multiple system atrophy: a review. J Neurol Neurosurg Psychiatry 1994;57:129-133.
6. Schapira AHV, Mann VM, Cooper JM, et al. Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease. J Neurochem 1990;55:2142-2145.
7. Sian J, Dexter D, Lees A, et al. Alterations in glutathione levels in Parkinson's disease and other neurodegenerative disorders affecting the basal ganglia. Ann Neurol 1994;36:348-355.
8. Nee L, Gomey M, Dambrosia J, Bale S, Eldridge R, Polinski R. Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation. Clin Auton Res 1991;1:9-13.
9. Gotoda T, Arita M, Arai H, et al. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 1995;333:1313-1318.
10. Johnson W, Hodge S, Duvoisin R. Twin studies and the genetics of Parkinson's disease - a reappraisal. Mov Disord 1990;5: 187-194.
11. Duvoisin R, Golbe L. Kindreds of dominantly inherited Parkinson's disease: keys to the riddle. Ann Neurol 1995;38:355-356.
12. Lazzarini A, Myers R, Zimmermann T, et al. A clinical genetic study of Parkinson's disease: evidence for dominant transmission. Neurology 1994;44:499-506.
13. Maraganore D, Harding A, Marsden C. A clinical and genetic study of familial Parkinson's disease. Mov Disord 1991;6:205-211.
14. Yebenes J, Sarasa J, Daniel S, Lees A. Familial progressive supranuclear palsy - description of a pedigree and review of the literature. Brain 1995;118:1095-1103.
15. Tetrud J, Golbe L, Forno L, Farmer P. Autopsy-proven progressive supranuclear palsy in two siblings. Neurology 1996; 46:931-934.
16. Orr H, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
17. Kawaguchi Y, Okamoto T, Tanikawi M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228.
18. Giunti P, Sweeney M, Spadaro M, et al. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 1994;117:645-649.
19. Giunti P, Sweeney M, Harding A. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 1995; 118:1077-1085.
20. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996;39:490-499.
21. Junck L, Fink J. Machado-Joseph disease and SCA3: the genotype meets the phenotype. Neurology 1996;46:4-8.
22. Genis D, Matilla T, Volpini V, et al. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 1995;45:24-30.
23. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-153.
24. Gilman S, Sima A, Junck L, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996;39:241-255.
25. Tuite P, Rogaeva E, St. George-Hyslop P, Lang AE. Doparesponsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 1995; 38:684-687.
26. Wenning G, Ben Shlomo Y, Magalhaes M, Daniel S, Quinn N. Clinical features and natural history of multiple system atrophy. Brain 1994;117:835-845.
27. Gupta M, Felten D, Ghetti B. Selective loss of monoaminergic neurons in weaver mutant mice - an immunocytochemical study. Brain Res 1987;402:379-382.
28. Schmidt M, Sawyer B, Perry K, Fuller R, Foreman M, Ghetti B. Dopamine deficiency in the weaver mutant mouse. J Neurosci 1982;2:376-380.
29. Verney C, Febvret-Muzerelle A, Gaspar P. Early postnatal changes of the dopaminergic mesencephalic neurons in the weaver mouse. Dev Brain Res 1995;89:115-119.
30. Triarhou L, Norton J, Ghetti B. Mesencephalic dopamine cell deficit involves the areas A8, A9 and A10 in weaver mutant mice. Exp Brain Res 1988;70:256-265.
31. Oo TF, Blazeski R, Harrison SMW, et al. Neuron death in the substantia nigra of weaver mouse occurs late in the development and is not apoptotic. J Neurosci 1996;16:6134-6145.
32. Graybiel A, Ohta K, Roffler-Tarlov S. Patterns of cell and fiber vulnerability in the mesostriatal system of the mutant mouse weaver I gradients and compartments. J Neurosci 1990;10: 720-733.
33. Gaspar P, Ben Jelloun N, Febvret A. Sparing of the dopaminergic neurons containing calbindin-D28k and of the dopaminergic mesocortical projections in weaver mutant mouse. Neuroscience 1994;61:293-305.
34. Yamada T, McGeer P, Baimbridge K, McGeer E. Relative sparing in Parkinson's disease of substantia nigra dopamine neurons containing calbindin-D28k. Brain Res 1990;526:303-307.
35. Patil N, Cox D, Bhat D, Faham M, Myers R, Peterson A. A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. Nat Genet 1995;11:126-129.
36. Goldowitz D, Smeyne R. Tune into the weaver channel. Nat Genet 1995;11:107-109.
37. Tsaur M-L, Menzel S, Lai F, et al. Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIIDM. Diabetes 1995;44:592-596.
38. Ferrer J, Nichols C, Makhina E, et al. Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels. J Biol Chem 1995;270:26086-26091.
39. Heckroth J, Eisenman L. Olivary morphology and olivocerebellar topography in adult lurcher mutant mice. J Comp Neurol 1991;312:641-651.
40. Bondy C. Transient IGF-I gene expression during the maturation of functionally related central projection neurons. J Neurosci 1991;11:3442-3455.
41. Nieto-Bona M, Garcia-Segura L, Torres-Aleman I. Orthograde transport and release of insulin-like growth factor I from the inferior olive to the cerebellum. J Neurosci Res 1993;36:520-527.
42. Torres-Aleman I, Pons S, Santo-Benito F. Survival of Purkinje cells in cerebellar culture is increased by insulin-like growth factor I. J Neurosci Res 1992;4:864-869.
43. Rubin J, Shia M, Pilch P. Stimulation of tyrosine-specific phosphorylation in vitro by insulin-like growth factor I. Nature 1983;305:438-440.
44. Aguado F, Sanchez-Franco F, Cacidedo L, Fernandez T, Rodrigo J, Martinez-Murillo R. Subcellular localization of insulin-like growth factor I (IGF-I) in Purkinje cells of the adult rat: an immunocytochemical study. Neuroscience 1992; 135:171-174.
45. Bondy C, Werner H, Roberts CJ, Le Roith D. Cellular pattern of type-1 insulin-like growth factor receptor gene expression during maturation of the rat brain: comparison with insulin-like growth factors I and II. Neuroscience 1992;46:909-923.
46. De-Keyser J, Wilczak N, De-Backer J, Herroelen L, Vauquelin G. Insulin-like growth factor-I receptors in human brain and pituitary gland: an autoradiographic study. Synapse 1994;17: 196-202.
47. Vig P, Desaiah D, Joshi P, Subramony S, Fratkin J, Currier R. Decreased insulin-like growth factor I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and lurcher mutant mouse. J Neurol Sci 1994;124:38-44.
48. Lärkfors L, Lindsay R, Alderson R. Ciliary neurotrophic factor enhances the survival of Purkinje cells in vitro. Eur J Neurosci 1994;6:1015-1024.
49. Hagg T, Varon S. Ciliary neurotrophic factor prevents degeneration of adult rat substantia nigra dopaminergic neurons in vivo. Proc Natl Acad Sci USA 1993;90:6315-6319.
50. Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nat Genet 1994;7:79-84.
51. Bakalian A, Kopmels B, Messer A, et al. Peripheral macrophage abnormalities in mutant mice with spinocerebellar degeneration. Res Immunol 1992;143:129-139.
52. Schwarz J, Weis S, Kraft E, et al. Signal changes on MRI and increases in reactive microgliosis, astrogliosis, and iron in the putamen of two patients with multiple system atrophy. J Neurol Neurosurg Psychiatry 1996;60:98-101.
53. Bannister R, Mowbray J, Sidgwick A. Genetic control of progressive autonomic failure: evidence for an association with an HLA antigen. Lancet 1983;i:1017.
54. Nee L, Brown R, Polinski R. HLA in autonomic failure. Arch Neurol 1989;46:758-759.
55. Limprasert P, Nouri N, Heyman R, et al. Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucelotide is associated with the number of CAG repeats. Hum Mol Genet 1996;5:207-213.
56. Watkins W, Bamshad M, Jorde L. Population genetics of trinucleotide repeat polymorphisms. Hum Mol Genet 1995;4: 1485-1491.
57. Ismanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T. Allele and haplotype frequencies for HLA and complement loci in various ethnic groups. In: Tsuji K, Aizawa M, Sasazuki T, ed. HLA 1991. Oxford: Oxford University Press, 1992:1065-1076.
58. Chung M, Ranum L, Duvick L, Servadio A, Zoghbi H, Orr H. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 1993;5:254-258.
59. Bandmann O, Davis M, Marsden C, Wood N. The human homologue of the weaver mouse gene in familial and sporadic Parkinson's disease. Neuroscience 1996;72:877-879.
60. Meloni R, Fougerousse F, Roudat C, Beckman J. Trinucleotide repeat polymorphism at the human insulin-like growth factor I receptor gene (IGF1R). Nucl Acid Res 1992;20:1427.
61. Krausa P, Bodmer J, Browning M. Defining the common subtypes of HLA A9, A10, A28 and A19 by use of ARMS/PCR. Tissue Antigens 1993;42:91-99.
62. Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T. A null mutation is not causally related to neurological diseases [erratum]. Nat Genet 1994;7:215.
63. Orrell R, King A, Lane R, de Belleroche J. Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis. J Neurol Sci 1995;132:126-128.
64. Daniel S, Geddes J, Revesz T. Glial cytoplasmic inclusions are not exclusive to multiple system atrophy. J Neurol Neurosurg Psychiatry 1995;58:262.
65. Okamura H, Yokoyama C, Ibata Y. Lateromedial gradient of the susceptibility of midbrain dopaminergic neurons to 6-hydroxydopamine toxicity. Exp Neurol 1995;136:136-142.
66. Torres-Aleman I, Barrios V, Lledo A, Berciano J. The insulin-like growth factor I system in cerebellar degeneration. Ann Neurol 1996;39:335-342.
67. Nöthen M, Propping P, Fimmers R. Association versus linkage studies in psychosis genetics. J Med Genet 1992;30:634-637.
68. Owen M, McGuffin P. Association and linkage: complementary strategies for complex disorders. J Med Genet 1993;30: 638-639.
69. Masu Y, Wolf E, Holtmann B, Sendtner M, Brem G, Thoenen H. Disruption of the CNTF gene results in motor neuron degeneration. Nature 1993;365:27-32.
70. Wright A, Carothers A. CNTF in the embryo. Nat Genet 1994; 7:60.
71. Plante-Bordeneuve V, Bandmann O, Wenning G, Quinn N, Daniel S, Harding A. CYP2D6-debrisoquine hydroxylase gene polymorphism in multiple system atrophy. Mov Disord 1995; 10:277-278.
72. Iwahashi K, Miyatake R, Tsuneoka Y, et al. A novel cytochrome P-450IID6 (CYPIID6) mutant gene associated with multiple system atrophy. J Neurol Neurosurg Psychiatry 1995;58:263-264.
73. Bandmann O, Wenning G, Quinn N, Harding A. Arg296 to Cys296 polymorphism in exon 6 of cytochrome P-450-2D6 (CYP2D6) is not associated with multiple system atrophy. J Neurol Neurosurg Psychiatry 1995;59:557.