Spinal and bulbar muscular atrophy: Pathogenesis and clinical management

Oral Diseases

Volumn 20, Issue 1, 2014, Pages 6-9

  Grunseich, C ^a   Rinaldi, C ^a   Fischbeck, Kh ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Craniofacial; Genetics; Kennedy's disease; Motor neuron disease; Spinal and bulbar muscular atrophy; Weakness

Indexed keywords

ANDROSTANOLONE; CORTICOSTEROID; CREATINE KINASE; DUTASTERIDE; LEUPRORELIN; MONOMER; OLIGOMER; POLYGLUTAMINE; TESTOSTERONE;

AEROBIC EXERCISE; AMYOTROPHIC LATERAL SCLEROSIS; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; ASPIRATION PNEUMONIA; BULBAR PARALYSIS; CAG REPEAT; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; ELECTROMYOGRAPHY; ERECTILE DYSFUNCTION; FAMILY HISTORY; FASCICULATION; GENE DELETION; GENETIC COUNSELING; GENETIC SCREENING; GYNECOMASTIA; HUMAN; IMPAIRED GLUCOSE TOLERANCE; KENNEDY DISEASE; LIFE EXPECTANCY; LUNG FUNCTION TEST; MOBILIZATION; MOTONEURON; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE STRENGTH; MYASTHENIA GRAVIS; NERVE CONDUCTION; NEUROPHYSIOLOGY; NONHUMAN; OXIDATIVE STRESS; OXYGEN CONSUMPTION; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; POLYMYOSITIS; PRIORITY JOURNAL; PROGNOSIS; RETROGRADE NERVE FIBER TRANSPORT; SPEECH ARTICULATION; SPINOCEREBELLAR DEGENERATION; SUBFERTILITY; TRINUCLEOTIDE REPEAT; WEAKNESS; MUSCULAR DISORDERS, ATROPHIC;

HUMANS; MUSCULAR DISORDERS, ATROPHIC;

EID: 84890120953     PISSN: 1354523X     EISSN: 16010825     Source Type: Journal    
DOI: 10.1111/odi.12121     Document Type: Article

References (34)

1. Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (2004). Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 431: 805-810.
2. Atsuta N, Watanabe H, Ito M et al (2006). Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 129: 1446-1455.
3. Banno H, Katsuno M, Suzuki K et al (2009). Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 65: 140-150.
4. Dias FA, Munhoz RP, Raskin S, Werneck LC, Teive HAG (2011). Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease). Clinics 66: 955-957.
5. Doyu M, Sobue G, Mukai E et al (1992). Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 32: 707-710.
6. Fernández-Rhodes LE, Kokkinis AD, White MJ et al (2011). Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol 10: 140-147.
7. Gatchel JR, Zoghbi HY (2005). Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 10: 743-755.
8. Ishihara H, Kanda F, Nishio H, Sumino K, Chihara K (2001). Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy. J Neurol 248: 856-860.
9. Katsuno M, Adachi H, Kume A et al (2002). Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35: 843-854.
10. Katsuno M, Adachi H, Doyu M et al (2003). Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 9: 768-773.
11. Katsuno M, Adachi H, Minamiyama M et al (2006). Reversible disruption of dynactin 1-mediated retrograde axonal transport in polyglutamine-induced motor neuron degeneration. J Neurosci 26: 12106-12117.
12. Katsuno M, Banno H, Suzuki K et al (2010). Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 9: 875-884.
13. Kennedy WR, Alter M, Sung JH (1968). Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 18: 671-680.
14. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991). Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79.
15. La Spada AR, Roling D, Harding AE et al (1992). Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2: 301-304.
16. Lehky TJ, Chen CJ, Di Prospero NA, Rhodes LE, Fischbeck K, Floeter MK (2009). Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy. Muscle Nerve 40: 809-814.
17. Li M, Miwa S, Kobayashi Y et al (1998). Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol 44: 249-254.
18. Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH (2002). Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum Mol Genet 11: 1967-1976.
19. McCampbell A, Taylor JP, Taye AA et al (2000). CREB-binding protein sequestration by expanded polyglutamine. Hum Mol Genet 9: 2197-2202.
20. Miller J, Arrasate M, Brooks E et al (2011). Identifying polyglutamine protein species in situ that best predict neurodegeneration. Nat Chem Biol 7: 925-934.
21. Minamiyama M, Katsuno M, Adachi H et al (2004). Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Hum Mol Genet 13: 1183-1192.
22. Nagashima T, Seko K, Hirose K et al (1988). 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 87: 141-152.
23. Nedelsky NB, Pennuto M, Smith RB et al (2010). Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 67: 936-952.
24. Ogata A, Matsuura T, Tashiro K et al (1994). Expression of androgen receptor in X-linked spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 57: 1274-1275.
25. Preisler N, Andersen G, Thogersen F et al (2009). Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). Neurology 72: 317-323.
26. Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH (2009). Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet 18: 27-42.
27. Rhodes LE, Freeman BK, Auh S et al (2009). Clinical features of spinal and bulbar muscular atrophy. Brain 132: 3242-3251.
28. Sinclair R, Greenland KJ, Egmond Sv, Hoedemaker C, Chapman A, Zajac JD (2007). Men with Kennedy disease have a reduced risk of androgenetic alopecia. Br J Dermatol 157: 290-294.
29. Sobue G, Matsuoka Y, Mukai E, Takayanagi T, Sobue I (1981). Pathology of myelinated fibers in cervical and lumbar ventral spinal roots in amyotrophic lateral sclerosis. J Neurol Sci 50: 413-421.
30. Soraru G, D'Ascenzo C, Polo A et al (2008). Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 264: 100-105.
31. Sumner CJ, Fischbeck KH (2002). Jaw drop in Kennedy's disease. Neurology 59: 1471-1472.
32. Walcott JL, Merry DE (2002). Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy. J Biol Chem 277: 50855-50859.
33. Yu Z, Dadgar N, Albertelli M et al (2006). Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest 116: 2663-2672.
34. Zoghbi HY, Orr HT (2000). Glutamine repeats and neurodegeneration. Annu Rev Neurosci 23: 217-247.