[HTML][HTML] Differentiating lower motor neuron syndromes

N Garg, SB Park, S Vucic, C Yiannikas… - Journal of Neurology …, 2017 - jnnp.bmj.com
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness
and may arise from pathology affecting the distal motor nerve up to the level of the anterior …

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

M Breza, G Koutsis - Journal of neurology, 2019 - Springer
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 …

LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice

R Prakasam, A Bonadiman, R Andreotti… - Nature …, 2023 - nature.com
Spinobulbar muscular atrophy (SBMA) is caused by CAG expansions in the androgen
receptor gene. Androgen binding to polyQ-expanded androgen receptor triggers SBMA …

Metabolic dysfunction in spinal muscular atrophy

MO Deguise, L Chehade, R Kothary - International Journal of Molecular …, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to
paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide …

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

A Rocchi, C Milioto, S Parodi, A Armirotti, D Borgia… - Acta …, 2016 - Springer
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the
expansion of a polyglutamine tract in the androgen receptor (AR). The mechanism by which …

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)

L Blasi, D Sabbatini, A Fortuna, G Querin, I Martinelli… - Scientific Reports, 2023 - nature.com
Serum creatinine has been indicated as a potential marker of motor function in SBMA and
results form previous longitudinal studies pointed to its decline over time. This is a …

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease

R Manzano, G Sorarú, C Grunseich, P Fratta… - Journal of Neurology …, 2018 - jnnp.bmj.com
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked
neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of …

Advancing epidemiology and genetic approaches for the treatment of spinal and bulbar muscular atrophy: Focus on prevalence in the indigenous population of …

H Wilton-Clark, A Al-Aghbari, J Yang, T Yokota - Genes, 2023 - mdpi.com
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a
debilitating neuromuscular disease characterized by progressive muscular weakness and …

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

D Borgia, A Malena, M Spinazzi… - Human molecular …, 2017 - academic.oup.com
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by
polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of …

[HTML][HTML] Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy

D DeBartolo, FJ Arnold, Y Liu, E Molotsky, HY Tang… - JCI insight, 2024 - ncbi.nlm.nih.gov
Prior studies showed that polyglutamine-expanded androgen receptor (AR) is aberrantly
acetylated and that deacetylation of the mutant AR by overexpression of nicotinamide …