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Gepubliceerd in: Tijdschrift voor Gerontologie en Geriatrie 1/2010

01-02-2010 | Klinische les

Op onduidelijke wijze in een rolstoel beland

De ziekte van Kennedy, een erfelijke neurodegeneratieve aandoening gediagnosticeerd bij een octogenerian

Auteurs: L. M. Verkleij, A. L. M. van de Ven, M. Wohlgemuth, F. A. Kruyt

Gepubliceerd in: Tijdschrift voor Gerontologie en Geriatrie | Uitgave 1/2010

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Samenvatting

In deze klinische les beschrijven wij een patiënt bij wie op oudere leeftijd een zeldzame erfelijke neurologische ziekte, namelijk de ziekte van Kennedy of wel spinobulbaire musculaire atrofie (SBMA), werd vastgesteld. Naast de casus worden ook de genetische basis en ontwikkelingen op het gebied van therapie van deze ziekte besproken.
Literatuur
1.
go back to reference Kawahara H. A family of progressive bulbar palsy. Aichi Med J 1897; 16: 3–4 (in Japanese) Kawahara H. A family of progressive bulbar palsy. Aichi Med J 1897; 16: 3–4 (in Japanese)
2.
go back to reference Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968; 18: 671–680 Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968; 18: 671–680
3.
go back to reference Sobue G, Hashizume Y, Mukai E et al. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 1989; 112: 209–32 Sobue G, Hashizume Y, Mukai E et al. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 1989; 112: 209–32
4.
go back to reference Fischbeck KH. Kennedy disease. J Inherited Metab Dis 1997; 20: 152–158 Fischbeck KH. Kennedy disease. J Inherited Metab Dis 1997; 20: 152–158
5.
go back to reference Atsuta N, Watanabe H, Ito M et al. Natural history of spinal and bulbar muscular atrophy (SBMA). A study of 223 Japanese patients. Brain 2006; 129: 1446–55 Atsuta N, Watanabe H, Ito M et al. Natural history of spinal and bulbar muscular atrophy (SBMA). A study of 223 Japanese patients. Brain 2006; 129: 1446–55
6.
go back to reference Katsuno M, Adachi H, Waza M et al. Pathogenesis, animal models and therapeutics in Spinal and Bulbar muscular atrophy (SBMA). Exp neurol 2006; 200(1): 8-18 Katsuno M, Adachi H, Waza M et al. Pathogenesis, animal models and therapeutics in Spinal and Bulbar muscular atrophy (SBMA). Exp neurol 2006; 200(1): 8-18
7.
go back to reference Adachi H, Waza M, Katsuno M et al. Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. Neuropathol Appl Neurobiol 2007; 33(2): 135-51 Adachi H, Waza M, Katsuno M et al. Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy. Neuropathol Appl Neurobiol 2007; 33(2): 135-51
8.
go back to reference 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 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
9.
go back to reference Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanism and principles. Nat Rev Genet 2005; 6: 743–755 Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanism and principles. Nat Rev Genet 2005; 6: 743–755
10.
go back to reference Guidetti D, Vescovini E, Motti L et al. X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci 1996; 135: 140–8 Guidetti D, Vescovini E, Motti L et al. X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci 1996; 135: 140–8
11.
go back to reference Takeyama K, Ito S, Yamamoto H et al. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002; 35: 855-864 Takeyama K, Ito S, Yamamoto H et al. Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila. Neuron 2002; 35: 855-864
12.
go back to reference Katsuno M, Adachi H, Doyu M et al. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 2003; 9: 768-773 Katsuno M, Adachi H, Doyu M et al. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 2003; 9: 768-773
13.
go back to reference Banno H, Katsuno M, Suzuki K et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar atrophy. Ann Neurol 2009; 65(2): 140-150 Banno H, Katsuno M, Suzuki K et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar atrophy. Ann Neurol 2009; 65(2): 140-150
14.
go back to reference Fang Y, Fliss AE, Robins DM, Caplan AJ. Hsp90 regulates androgen receptor hormone binding affinity in vivo. J Biol Chem 1996; 271: 28679-702 Fang Y, Fliss AE, Robins DM, Caplan AJ. Hsp90 regulates androgen receptor hormone binding affinity in vivo. J Biol Chem 1996; 271: 28679-702
15.
go back to reference Georget V, Terouanne B, Nicolas JC, Sultan C. Mechanism of antiandrogen action, key role of Hsp90 in conformational change and transcriptional activity of the androgen receptor. Biochemistry 2002; 41: 11824-31 Georget V, Terouanne B, Nicolas JC, Sultan C. Mechanism of antiandrogen action, key role of Hsp90 in conformational change and transcriptional activity of the androgen receptor. Biochemistry 2002; 41: 11824-31
16.
go back to reference Pratt WB, Toft DO. Regulation of signaling protein function and trafficking by the hsp90/hsp70-based chaperone machinery. Exp Biol Med 2003; 228: 111-133 Pratt WB, Toft DO. Regulation of signaling protein function and trafficking by the hsp90/hsp70-based chaperone machinery. Exp Biol Med 2003; 228: 111-133
17.
go back to reference Waza M, Adachi H, Katsuno M et al. 17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration. Nat Med 2005; 11: 1088-95 Waza M, Adachi H, Katsuno M et al. 17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration. Nat Med 2005; 11: 1088-95
18.
go back to reference Bonvini P, Dalla Rosa H, Vignes N, Rosolen A. Ubiquination and proteasomal degeneration of nucleophosmin-anaplasitc lymphoma kinase induced by 17-allylamino-demethylgeldanamycin: role of the co-chaperone carboxyl heat shock protein 70-interacting protein. Cancer Res 2004; 64: 3256-64 Bonvini P, Dalla Rosa H, Vignes N, Rosolen A. Ubiquination and proteasomal degeneration of nucleophosmin-anaplasitc lymphoma kinase induced by 17-allylamino-demethylgeldanamycin: role of the co-chaperone carboxyl heat shock protein 70-interacting protein. Cancer Res 2004; 64: 3256-64
19.
go back to reference Vanaja DK, Mitchell SH, Toft DO, Young CY. Effect of geldanamycin on androgen receptor function and stability. Cell Stress Chaperones 2002; 7(1): 55-64 Vanaja DK, Mitchell SH, Toft DO, Young CY. Effect of geldanamycin on androgen receptor function and stability. Cell Stress Chaperones 2002; 7(1): 55-64
20.
go back to reference Adachi H, Katsuno M, Minamiyama M et al. Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model bij reducing nuclearlocalized mutant androgen receptor protein. J Neurosci 2003; 23: 2203-2211 Adachi H, Katsuno M, Minamiyama M et al. Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model bij reducing nuclearlocalized mutant androgen receptor protein. J Neurosci 2003; 23: 2203-2211
21.
go back to reference Katsuno M, Sang C, Adachi H et al. Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease. Proc Natl Acad Sci U.S.A. 2005; 102(46): 16801-06 Katsuno M, Sang C, Adachi H et al. Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease. Proc Natl Acad Sci U.S.A. 2005; 102(46): 16801-06
Metagegevens
Titel
Op onduidelijke wijze in een rolstoel beland
De ziekte van Kennedy, een erfelijke neurodegeneratieve aandoening gediagnosticeerd bij een octogenerian
Auteurs
L. M. Verkleij
A. L. M. van de Ven
M. Wohlgemuth
F. A. Kruyt
Publicatiedatum
01-02-2010
Uitgeverij
Springer-Verlag
Gepubliceerd in
Tijdschrift voor Gerontologie en Geriatrie / Uitgave 1/2010
Print ISSN: 0167-9228
Elektronisch ISSN: 1875-6832
DOI
https://doi.org/10.1007/BF03096177

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