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2025, Number 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

Language: Spanish
References: 13
Page:
PDF size: 884.42 Kb.


ABSTRACT

     


REFERENCES

  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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