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01-03-2019 | Review

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

Authors: Marianthi Breza, Georgios Koutsis

Published in: Journal of Neurology | Issue 3/2019

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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Title: Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease
Authors: Marianthi Breza
Georgios Koutsis
Publication date: 01-03-2019
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 3/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-018-8968-7

ACC 2024 Congress

Springer Medicine

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

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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