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

Journal of Neurology
Marianthi Breza, Georgios Koutsis

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.

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Citations

Sep 26, 2019·Frontiers in Neurology·Cody RexKerri Schellenberg
Oct 2, 2020·Continuum : Lifelong Learning in Neurology·Zachary N London
Jun 9, 2020·The Journal of Physiology·Kennedy C WhitleyRiley E G Cleverdon
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May 7, 2021·Veterinary Medicine and Science·Guofang WuJiping Zhou
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Jun 17, 2021·Muscle & Nerve·Stefan NicolauTeerin Liewluck

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