Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy

Abstract

This special issue is dedicated to spinal and bulbar muscular atrophy (SBMA) and is based on the conference sponsored by the European Neuromuscular Centre (ENMC) held in March 2015. SBMA, also known as Kennedy's disease, is a neurodegenerative disease caused by an expansion of a repeat of the trinucleotide CAG encoding glutamine in the gene encoding androgen receptor (AR). Expansion of polyglutamine in the AR results in selective lower motor neuron degeneration and skeletal muscle atrophy. SBMA belongs to the family of polyglutamine diseases, which also inc l u d e s H u n t i n g t o n 's d i s e a s e , d e n t a t o r u b r a lpallidoluysian atrophy, and spinocerebellar ataxia m a l e s a r e u s u a l l y a s y m p t o m a t i c . I n d e e d , t h e polyglutamine-expanded AR is converted to a neurotoxic species upon binding to androgens. The mechanisms through which androgen binding triggers the disease are under investigation. Although several therapeutic strategies have been proposed to date, there is currently no effective therapy to arrest or delay disease progression in patients.

Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report

“…Клинические признаки СБМА обычно появляются у мужчин в 30-60 лет и включают медленно прогрессирующую слабость мышц конечностей и бульбарной мускулатуры, фасцикуляции в скелетных мышцах, тремор головы и рук [5][6][7]. Cредний возраст начала СБМА в Великобритании -14-75 лет [3], в Япониив диапазоне 22-69 лет [8].…”

The Use of Korean Medicine to Treat Patients with Spinobulbar Muscular Atrophy, Kennedy’s Disease - A Case Study

“…Although several therapeutic strategies have been proposed, currently no effective therapy exists to arrest or delay disease progression [ 2 ]. Two case reports on the treatment of progressive muscular disease (PMD) by using Korean traditional medicine can be found in the literature [ 3 , 4 ].…”

The Future for Dementia Research: a Perspective from the Journal of Molecular Neuroscience

“…Other important aspects of dementia are covered in special issues as well, for example, a focus on frontotemporal dementia (Ghetti 2011;Gozes 2011). In general, neurodegeneration was recently covered in a meeting report as well as in an issue dealing with muscular atrophy (Pennuto and Gozes 2016).…”