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Erschienen in: Journal of Neurology 3/2019

13.07.2018 | Review

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

verfasst von: Marianthi Breza, Georgios Koutsis

Erschienen in: Journal of Neurology | Ausgabe 3/2019

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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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Literatur
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Metadaten
Titel
Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease
verfasst von
Marianthi Breza
Georgios Koutsis
Publikationsdatum
13.07.2018
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 3/2019
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-018-8968-7

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