Spinal and Bulbar Muscular Atrophy Overview
نویسندگان
چکیده
منابع مشابه
Spinal 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 کاملNeuropathology 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 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...
متن کاملNeurotoxic effects of androgens in spinal and bulbar muscular atrophy
Expansion of polyglutamine tracts in nine different genes causes selective neuronal degeneration through unknown mechanisms. Expansion of polyglutamine in the androgen receptor is responsible for spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder characterized by the loss of lower motor neurons in the brainstem and spinal cord. A unique feature of SBMA in the family of polyglut...
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ژورنال
عنوان ژورنال: Journal of Molecular Neuroscience
سال: 2015
ISSN: 0895-8696,1559-1166
DOI: 10.1007/s12031-015-0674-7