Neurologic Course, Endocrine Dysfunction and Triplet Repeat Size in Spinal Bulbar Muscular Atrophy
نویسندگان
چکیده
منابع مشابه
Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy.
OBJECTIVE To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease). METHODS Twenty unrelated SBMA patients with confirmatory genetic testing were reviewed. Patterns of neurologic involvement were assessed (e.g. bulbar, asymmetric, proximal, distal, motor and sensory...
متن کاملContractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy.
Spinal and bulbar muscular atrophy (SBMA) is characterized by progressive muscle weakness linked to a polyglutamine expansion in the androgen receptor (AR). Current evidence indicates that mutant AR causes SBMA by acting in muscle to perturb its function. However, information about how muscle function is impaired is scant. One fundamental question is whether the intrinsic strength of muscles, a...
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 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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2004
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100003486