Molecular Pathophysiology and Disease-Modifying Therapies for Spinal and Bulbar Muscular Atrophy
نویسندگان
چکیده
منابع مشابه
Molecular 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 کاملNonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
OBJECTIVE To determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA). METHODS Two groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were...
متن کاملSpinal and bulbar muscular atrophy: a motoneuron or muscle disease?
Kennedy disease (KD, or spinal and bulbar muscular atrophy) is caused by a CAG/polyglutamine expansion in the androgen receptor (AR) gene. Both motoneurons and muscles are affected by KD, but where mutant ARs act to initiate this disease is not clear. We discuss recent insights into this disease with two main themes. (1) KD is androgen-dependent, suggesting that blocking androgen action may be ...
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 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...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2012
ISSN: 0003-9942
DOI: 10.1001/archneurol.2011.2308