Related Experiment Video
Updated: May 14, 2026

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
Published on: July 29, 2007
New routes to therapy for spinal and bulbar muscular atrophy
1Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, via Morego 30, Genova, 16163, Italy.
Abstract:
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a genetically inherited neuromuscular disorder characterized by loss of lower motor neurons in the brainstem and spinal cord and skeletal muscle fasciculation, weakness, and atrophy. SBMA is caused by expansion of a polyglutamine (polyQ) tract in the gene coding for the androgen receptor (AR). PolyQ expansions cause at least eight other neurological disorders, which are collectively known as polyQ diseases. SBMA is unique in the family of polyQ diseases in that the disease manifests fully in male individuals only. The sex specificity of SBMA is the result of the interaction between mutant AR and its natural ligand, testosterone. Here, we will discuss emerging therapeutic perspectives for SBMA in light of recent findings regarding disease pathogenesis.
More Related Videos
05:55Delivery of Therapeutic Agents Through Intracerebroventricular (ICV) and Intravenous (IV) Injection in Mice
Published on: October 3, 2011
10:57Intramuscular Injections Along the Motor End Plates: A Minimally Invasive Approach to Shuttle Tracers Directly into Motor Neurons
Published on: July 13, 2015
Related Concept Videos
Satellite Stem Cells and Muscular Dystrophy
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Direct-Acting Cholinergic Agonists: Therapeutic Uses
Parkinson's Disease: Treatment
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of its...
Additional Routes of Drug Administration
Administering drugs via inhalation allows for the direct delivery of gaseous, volatile substances or droplets to different parts of the respiratory tract. One of the advantages of the inhalation route is the rapid absorption of drugs into the circulatory system, which is possible because of the large surface area of...
Myasthenia Gravis ll: Pathophysiology