Results 181 to 190 of about 11,861 (217)

Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)

Progress in Neurobiology, 2012
Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by slowly progressive muscle weakness and atrophy. During the last two decades, basic and clinical research has provided important insights into the disease phenotype and pathophysiology. The cause of SBMA is the expansion of a trinucleotide CAG repeat encoding
Masahisa, Katsuno, Fumiaki, Tanaka, Hiroaki, Adachi, Haruhiko, Banno, Keisuke, Suzuki, Hirohisa, Watanabe, Gen, Sobue   +6 more
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Late‐onset X‐linked recessive spinal and bulbar muscular atrophy

Muscle & Nerve, 1978
AbstractA family is described in which five males have late‐onset facial weakness, dysarthria, dysphagia, and slowly progressive proximal weakness. Electrodiagnostic studies and muscle biopsy were compatible with spinal muscular atrophy. This family appears quite similar to several previously reported families with late‐onset X‐linked recessive spinal ...
S P, Ringel, N S, Lava, M M, Treihaft, M L, Lubs, H A, Lubs   +4 more
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Troponin T in spinal and bulbar muscular atrophy (SBMA)

Journal of the Neurological Sciences
Serum biomarkers that might detect clinical progression are currently lacking for Spinal and bulbar muscular atrophy (SBMA), thus limiting the effectiveness of possible future pharmacological trials. Elevation of cardiac troponin T (cTnT) unrelated to myocardial damage in a motor neuron (MN) disease as amyotrophic lateral sclerosis (ALS) was associated
Musso, Giulia, Blasi, Lorenzo, Mion, Monica Maria, Fortuna, Andrea, Sabbatini, Daniele, Zaninotto, Martina, Bello, Luca, Pegoraro, Elena, Basso, Daniela, Plebani, Mario, Sorarù, Gianni   +10 more
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Postural tremor in X‐linked spinal and bulbar muscular atrophy

Movement Disorders, 2009
AbstractPostural tremor is a common initial symptom in spinal and bulbar muscular atrophy (SBMA), but its pathophysiological mechanisms remain to be studied. This study was undertaken to examine the physiological mechanisms underlying postural tremor in SBMA.
Ritsuko, Hanajima, Yasuo, Terao, Setsu, Nakatani-Enomoto, Masashi, Hamada, Akihiro, Yugeta, Hideyuki, Matsumoto, Tomotaka, Yamamoto, Shoji, Tsuji, Yoshikazu, Ugawa   +8 more
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Bulbar and spinal muscular atrophy (Kennedy’s disease): a review

European Journal of Neurology, 2009
Bulbar and spinal muscular atrophy (BSMA) is an adult‐onset, X‐linked recessive trinucleotide, polyglutamine disorder, caused by expansion of a polymorphic CAG tandem‐repeat in exon 1 of the androgen‐receptor (AR) gene on chromosome Xq11‐12. Pathogenetically, mutated AR accumulates in nuclei and cytoplasm of motor neurons, resulting in their ...
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Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia

Neurology, 1999
The proband, a 53-year-old man, developed progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 50. His father had weakness of lower limbs, and his son had a nasal voice, ocular movement abnormalities, and gynecomastia, whereas two of the proband's brothers showed either gynecomastia or tongue fasciculations.
K, Ikezoe, T, Yoshimura, T, Taniwaki, E, Matsuura, H, Furuya, T, Yamada, K, Nagamatsu, J, Kira   +7 more
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Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA)

Cytogenetic and Genome Research, 2003
Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by proximal muscle atrophy, weakness, contraction fasciculations, and bulbar involvement. Only males develop symptoms, while female carriers usually are asymptomatic. A specific treatment for SBMA has not been established.
M, Katsuno, H, Adachi, A, Inukai, G, Sobue   +3 more
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Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

Neurology, 2013
To test the efficacy and tolerability of clenbuterol in patients with spinal and bulbar muscular atrophy (SBMA).Twenty patients with a diagnosis of SBMA were given oral clenbuterol (0.04 mg/d) for 12 months. The primary efficacy end point was the change from baseline of the walking distance covered in 6 minutes at 12 months.
Querin G, D'Ascenzo C, Peterle E, ERMANI, MARIO, BELLO, LUCA, Melacini P, Morandi L, Mazzini L, Silani V, Raimondi M, Mandrioli J, Romito S, Angelini C, PEGORARO, ELENA, SORARU', GIANNI   +14 more
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Pathogenesis‐targeting therapeutics for spinal and bulbar muscular atrophy (SBMA)

Neuropathology, 2009
Spinal and bulbar muscular atrophy (SBMA) is an hereditary, adult‐onset, lower motor neuron disease caused by an aberrant elongation of a trinucleotide CAG repeat, which encodes the polyglutamine tract, in the first exon of the androgen receptor (AR) gene.
Keisuke, Suzuki, Masahisa, Kastuno, Haruhiko, Banno, Gen, Sobue   +3 more
openaire   +2 more sources

X-linked spinal and bulbar muscular atrophy with myasthenic symptoms

Journal of the Neurological Sciences, 1997
We describe a patient with X-linked spinal and bulbar muscular atrophy (X-SBMA) and myasthenic symptoms. The diagnosis of X-SBMA was established by demonstration of the increased number of CAG repeats in the androgen receptor gene on the X chromosome. This patient was characterized by the clinical symptoms of fatigability, decremental motor responses ...
M, Yamada, A, Inaba, T, Shiojiri
openaire   +2 more sources