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2025, Número 2

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rev homeostasis 2025; 7 (2)


Atrofia Muscular Espinal y Bulbar (Enfermedad de Kennedy): Actualización Clínica y Manejo Multidisciplinario

Mora TJR, González JAS

Idioma: Español
Referencias bibliográficas: 13
Paginas:
Archivo PDF: 884.42 Kb.


RESUMEN

     


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Tu S, Li T, Carroll AS, Mahoney CJ, Huynh W, Park SB, et al. Central neurodegeneration in Kennedy’s disease accompanies peripheral motor dysfunction. Sci Rep. 2024;14(1):18331.

  2. Malek EG, Salameh JS, Makki A. Kennedy’s disease: an under-recognized motor neuron disorder. Acta Neurol Belg. 2020;120(6):1289–95.

  3. Breza M, Koutsis G. Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol. 2019;266(3):565–73.

  4. Querin G, Sorarù G, Pradat P-F. Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy. Rev Neurol (Paris). 2017;173(5):326–37.

  5. Grunseich C, Fischbeck KH. Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy’s disease) and avenues for treatment. Curr Opin Neurol. 2020;33(5):629–34.

  6. Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). J Neurol Neurosurg Psychiatry. 2020;91(10):1085–91.

  7. Bellai DJ, Rae MG. A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy’s disease) and the length of CAG repeats in the androgen receptor gene. eNeurologicalSci. 2024;34(100495):100495

  8. Arnold FJ, Merry DE. Molecular mechanisms and therapeutics for SBMA/Kennedy’s disease. Neurotherapeutics. 2019;16(4):928–47.

  9. Liu X, Zhu M, Li X, Tang J. Clinical manifestations and AR gene mutations in Kennedy’s disease. Funct Integr Genomics. 2019;19(3):533–9.

  10. Francini-Pesenti F, Vitturi N, Tresso S, Sorarù G. Metabolic alterations in spinal and bulbar muscular atrophy. Rev Neurol (Paris). 2020;176(10):780–7.

  11. Langenbruch L, Perez-Mengual S, Glatz C, Young P, Boentert M. Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy’s disease). Sleep Breath. 2021;25(3):1399–405.

  12. La Spada A. Spinal and bulbar muscular atrophy. En: GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2025.

  13. Tebbenkamp AT, Huggett SB, Lombardi V, Zampedri L, AlQahtani A, Kokkinis A, et al. Protein biomarker signature in patients with spinal and bulbar muscular atrophy. JCI Insight. 2024;9(13).




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