Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy

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• 作者：Manu E Jokela ; Bjarne Udd
• 关键词：Spinal and bulbar muscular atrophy ; Muscle biopsy ; EMG
• 刊名：Journal of Molecular Neuroscience
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：58
• 期：3
• 页码：330-334
• 全文大小：246 KB
• 参考文献：Adachi H, Katsuno M, Minamiyama M et al (2005) Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128:659–670CrossRef PubMed
  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 129:1446–1455CrossRef PubMed
  Chahin N, Sorenson EJ (2009) Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis. Muscle Nerve 40:126–129CrossRef PubMed
  Cortes CJ, Ling SC, Guo LT et al (2014) Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. Neuron 82:295–307CrossRef PubMed PubMedCentral
  Dubowitz V, Sewry C, Oldfors A (eds) (2013) Muscle biopsy: a practical approach, 4th edn. Saunders/Elsevier, London
  Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C (2005) A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. Neurology 26(64):1458–1460CrossRef
  Ferrante MA, Wilbourn AJ (1997) The characteristic electrodiagnostic features of Kennedy’s disease. Muscle Nerve 20:323–329CrossRef PubMed
  Fratta P, Nirmalananthan N, Masset L et al (2014) Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology 82:2077–2084CrossRef PubMed PubMedCentral
  Grunseich C, Kats IR, Bott LC et al (2014) Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat. Neuromuscul Disord 24:978–981CrossRef PubMed PubMedCentral
  Hama T, Hirayama M, Hara T et al (2012) Discrimination of spinal and bulbar muscular atrophy from amyotrophic lateral sclerosis using sensory nerve action potentials. Muscle Nerve 45:169–174CrossRef PubMed
  Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR (1982) X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 45:1012–1019CrossRef PubMed PubMedCentral
  Hashizume A, Katsuno M, Banno H et al (2012) Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain 135:2838–2848CrossRef PubMed
  Hirota N, Eisen A, Weber M (2000) Complex fasciculations and their origin in amyotrophic lateral sclerosis and Kennedy’s disease. Muscle Nerve 23:872–1875CrossRef
  Jokela M, Penttilä S, Huovinen S, Hackman P, Saukkonen AM, Toivanen J, Udd B (2011) Late-onset lower motor neuronopathy: a new autosomal dominant disorder. Neurology 77:334–340CrossRef PubMed
  Jokela ME, Jääskeläinen SK, Sandell S et al (2015) Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis. J Neurol Sci 355:143–146CrossRef PubMed
  Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 18:671–680CrossRef PubMed
  Kuwabara S, Sonoo M, Komori T et al (2008) Dissociated small hand muscle atrophy in amyotrophic lateral sclerosis: frequency, extent, and specificity. Muscle Nerve 37:426–430CrossRef PubMed
  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 352:77–79CrossRef PubMed
  Malena A, Pennuto M, Tezze C et al (2013) Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy. Acta Neuropathol 126:109–121CrossRef PubMed
  Mariotti C, Castellotti B, Pareyson D et al (2000) Phenotypic manifestation associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord 10:391–397CrossRef PubMed
  Meriggioli M, Rowin D, Sanders D (1999) Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve 22:1693–1697CrossRef PubMed
  Pennuto M, Greensmith L, Pradat PF, Sorarù G, on behalf of the European SBMA Consortium (2015) 210th ENMC International Workshop: research and clinical management of patients with spinal and bulbar muscular atrophy. Neuromuscul Disord 25:802–812, Naarden, The NetherlandsCrossRef PubMed
  Penttilä S, Jokela M, Huovinen S et al (2014) Late-onset spinal motor neuronopathy—a common form of dominant SMA. Neuromuscul Disord 24:259–268CrossRef PubMed
  Rhodes LE, Freeman BK, Auh S et al (2009) Clinical features of spinal and bulbar muscular atrophy. Brain 132:3242–3251CrossRef PubMed PubMedCentral
  Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ, Spriggs EL (2002) Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 59:770–772CrossRef PubMed
  Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A (1989) X-linked recessive bulbospinal neuronopathy: a clinicopathological study. Brain 112:209–232CrossRef PubMed
  Sorarù 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 264:100–105CrossRef PubMed
  Sorenson EJ, Klein CJ (2007) Elevated creatine kinase and transaminases in asymptomatic SBMA. Amyotroph Lateral Scler 8:62–64CrossRef PubMed
  Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Häussler J, Ludolph AC, Hanemann CO (2002) X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol 59:1921–1926CrossRef PubMed
  Sperfeld AD, Hanemann CO, Ludolph AC, Kassubek J (2005) Laryngospasm: an underdiagnosed symptom of X-linked spinobulbar muscular atrophy. Neurology 64:753–754CrossRef PubMed
  Suzuki K, Katsuno M, Banno H et al (2008) CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA. Brain 131:229–239CrossRef PubMed
  Tomik B, Partyka D, Sułek A et al (2006) A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy. Amyotroph Lateral Scler 7:72–79CrossRef PubMed
  Udd B, Juvonen V, Hakamies L, Nieminen A, Wallgren-Pettersson C, Cederquist K, Savontaus ML (1998) High prevalence of Kennedy’s disease in Western Finland—is the syndrome underdiagnosed? Acta Neurol Scand 98:128–133CrossRef PubMed
  Vogel H (2013) Neurogenic muscle pathology. In: Goebel HH, Sewry CA, Weller RO (eds) Muscle disease. Pathology and genetics 2nd edition. Wiley Blackwell, Hoboken, pp 68–78CrossRef
  
• 作者单位：Manu E Jokela (1)
  Bjarne Udd (2)
  
  1. Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Kiinamyllynkatu 4-8, 20520, Turku, Finland
  2. Neuromuscular Research Center, Tampere University and Hospital, Tampere, Finland
  
• 刊物主题：Neurosciences; Neurochemistry; Cell Biology; Proteomics; Neurology;
• 出版者：Springer US
• ISSN：1559-1166

文摘

Kennedy’s disease or spinal and bulbar muscular atrophy (SBMA) is a multi-system disorder affecting adult males, which is characterized by weakness of limbs and faciobulbar muscles primarily due to loss of lower motor neurons. Besides the obvious motor neuronopathy, additional findings in a substantial proportion of SBMA patients include sensory neuropathy and signs of androgen deficiency, such as poor sexual functioning and reduced fertility with gynaecomastia. The presence of elevated glucose, liver pathology or dyslipidaemia is less consistent features. We review the striking clinical, electrodiagnostic and muscle pathology features characteristic of Kennedy’s disease, which has some peculiar and diagnostically useful features not observed in many other neuromuscular disorders.