Literature DB >> 17364438

Elevated creatine kinase and transaminases in asymptomatic SBMA.

Eric J Sorenson1, Christopher J Klein.   

Abstract

X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) has a variable prognosis. Most male carriers are affected by their fourth or fifth decade of life, while some remain asymptomatic lifelong. Elevations of serum creatine kinase are well known to occur in clinically manifesting SBMA patients. Elevations prior to the onset of the clinical syndrome have not been reported. Here we report two cases of SBMA presenting with 'idiopathic' elevations of serum transaminases and creatine kinase a decade in advance of their symptomatic onset. These cases emphasize the need to consider SBMA and genetic testing for the androgen receptor trinucleotide CAG expansion in males otherwise healthy with 'idiopathic' elevated creatinine kinase.

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Year:  2007        PMID: 17364438     DOI: 10.1080/17482960600765040

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler        ISSN: 1471-180X


  8 in total

1.  Contractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy.

Authors:  Kentaro Oki; Katherine Halievski; Laura Vicente; Youfen Xu; Donald Zeolla; Jessica Poort; Masahisa Katsuno; Hiroaki Adachi; Gen Sobue; Robert W Wiseman; S Marc Breedlove; Cynthia L Jordan
Journal:  J Appl Physiol (1985)       Date:  2015-02-05

2.  Rare association of antisynthetase syndrome and Kennedy's disease.

Authors:  Nora Szabo; Szilveszter Lukacs; Wiranthi Gunasekera; Katalin Danko
Journal:  Clin Rheumatol       Date:  2008-07-01       Impact factor: 2.980

3.  The Combined Efficacy of a Two-Year Period of Cybernic Treatment With a Wearable Cyborg Hybrid-Assistive Limb and Leuprorelin Therapy in a Patient With Spinal and Bulbar Muscular Atrophy: A Case Report.

Authors:  Hideaki Nakatsuji; Tetsuhiko Ikeda; Atsushi Hashizume; Masahisa Katsuno; Gen Sobue; Takashi Nakajima
Journal:  Front Neurol       Date:  2022-06-24       Impact factor: 4.086

Review 4.  Skeletal Muscle Pathogenesis in Polyglutamine Diseases.

Authors:  Caterina Marchioretti; Emanuela Zuccaro; Udai Bhan Pandey; Jessica Rosati; Manuela Basso; Maria Pennuto
Journal:  Cells       Date:  2022-07-03       Impact factor: 7.666

Review 5.  Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.

Authors:  Manu E Jokela; Bjarne Udd
Journal:  J Mol Neurosci       Date:  2015-11-16       Impact factor: 3.444

6.  The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.

Authors:  Pierre-François Pradat; Emilien Bernard; Philippe Corcia; Philippe Couratier; Christel Jublanc; Giorgia Querin; Capucine Morélot Panzini; François Salachas; Christophe Vial; Karim Wahbi; Peter Bede; Claude Desnuelle
Journal:  Orphanet J Rare Dis       Date:  2020-04-10       Impact factor: 4.123

7.  Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

Authors:  Giorgia Querin; Cinzia Bertolin; Elisa Da Re; Marco Volpe; Gabriella Zara; Elena Pegoraro; Nicola Caretta; Carlo Foresta; Maria Silvano; Domenico Corrado; Massimo Iafrate; Lorenzo Angelini; Leonardo Sartori; Maria Pennuto; Alessandra Gaiani; Luca Bello; Claudio Semplicini; Davide Pareyson; Vincenzo Silani; Mario Ermani; Alberto Ferlin; Gianni Sorarù
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-10-26       Impact factor: 10.154

Review 8.  Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review.

Authors:  Giorgia Querin; Peter Bede; Veronique Marchand-Pauvert; Pierre-Francois Pradat
Journal:  Front Neurol       Date:  2018-10-10       Impact factor: 4.003

  8 in total

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