Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

doi:10.1007/s00415-018-8968-7

Review

. 2019 Mar;266(3):565-573.

doi: 10.1007/s00415-018-8968-7. Epub 2018 Jul 13.

Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

Marianthi Breza¹, Georgios Koutsis²

Affiliations

¹ Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 72-74 Vasilissis Sofias, 11528, Athens, Greece. marianthibr@med.uoa.gr.
² Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 72-74 Vasilissis Sofias, 11528, Athens, Greece.

PMID: 30006721
DOI: 10.1007/s00415-018-8968-7

Review

Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

Marianthi Breza et al. J Neurol. 2019 Mar.

. 2019 Mar;266(3):565-573.

doi: 10.1007/s00415-018-8968-7. Epub 2018 Jul 13.

Authors

Marianthi Breza¹, Georgios Koutsis²

Affiliations

¹ Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 72-74 Vasilissis Sofias, 11528, Athens, Greece. marianthibr@med.uoa.gr.
² Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 72-74 Vasilissis Sofias, 11528, Athens, Greece.

PMID: 30006721
DOI: 10.1007/s00415-018-8968-7

Abstract

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked hereditary lower motor neuron disease, characterized by progressive muscular weakness. An expanded trinucleotide repeat (CAG > 37) in the androgen receptor gene (AR), encoding glutamine, is the mutation responsible for Kennedy's disease. Toxicity of this mutant protein affects both motor neurons and muscles. In this review, we provide a comprehensive, clinically oriented overview of the current literature regarding Kennedy's disease, highlighting gaps in our knowledge that remain to be addressed in further research. Kennedy's disease mimics are also discussed, as are ongoing and recently completed therapeutic endeavours.

Keywords: Androgen receptor; Kennedy’s disease; Spinal and bulbar muscular atrophy; Spinobulbar muscular atrophy; X-linked.

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[1] Am J Med Genet. 1999 Jul 30;85(3):209-13 - PubMed

[2] Am J Med Genet. 1999 Jul 30;85(3):209-13 - PubMed

[3] Muscle Nerve. 2000 Feb;23(2):252-8 - PubMed

[4] Muscle Nerve. 2000 Feb;23(2):252-8 - PubMed

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[9] Brain. 2006 Jun;129(Pt 6):1446-55 - PubMed

[10] Brain. 2006 Jun;129(Pt 6):1446-55 - PubMed

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Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

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Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

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