Therapeutic approaches to spinal and bulbar muscular atrophy
نویسندگان
چکیده
منابع مشابه
Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The histopathological finding in SBMA is loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei. Animal studies have revealed that the pathogenesis of SBMA depends on the level of seru...
متن کاملDisease mechanisms and therapeutic approaches in spinal muscular atrophy.
Motor neuron diseases are neurological disorders characterized primarily by the degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often fatal motor dysfunction. Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease of high incidence and severity and the most common genetic cause of infant mortality. SMA is caused by homozygous mutations i...
متن کاملSpinal and Bulbar Muscular Atrophy - Clinical Features and Pathogenesis
Clinical features SBMA, or Kennedy’s disease, is an inherited lower motor neuron disease characterised by adult-onset muscle atrophy, weakness, contraction, fasciculations, and bulbar involvement. The onset of weakness is usually between 30 and 50 years, but often preceded by nonspecific symptoms such as tremor, muscle cramps and fatigue. Muscle atrophy and weakness are predominant in the tongu...
متن کاملA mouse model of spinal and bulbar muscular atrophy.
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease, caused by the expansion of a trinucleotide repeat (TNR) in exon 1 of the androgen receptor (AR) gene. This disorder is characterized by degeneration of motor and sensory neurons, proximal muscular atrophy, and endocrine abnormalities, such as gynecomastia and reduced fertility. We describe the development of a tra...
متن کاملMolecular diagnosis of spinal and bulbar muscular atrophy in Slovakia.
OBJECTIVES Molecular-genetic analysis is a determining step in setting the diagnosis of spinal and bulbar muscular atrophy (SBMA). We present the first nation-wide study and experience with this disease and its diagnosis in Slovakia. The study is enriched by comparison of genetic findings from Slovak patients to patients from other countries. METHODS Molecular-genetic analysis was performed f...
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ژورنال
عنوان ژورنال: Trends in Pharmacological Sciences
سال: 2010
ISSN: 0165-6147
DOI: 10.1016/j.tips.2010.08.005