Results 81 to 90 of about 11,861 (217)

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy

Frontiers in Neuroendocrinology, 2011
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.
Parodi, Sara, Pennuto, Maria
openaire   +5 more sources

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 218-241, February 2026.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis and Multiple Sclerosis Overlap: A Case Report [PDF]

, 2012
The concurrence of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) is extremely rare. We reported the case of a 33-year-old woman with a past history of paresthesias at the right hand, who developed progressive quadriparesis with muscular
Anna Sagnelli, Cinzia Femiano, Francesca Trojsi, Francesco Izzo, Gioacchino Tedeschi, Giovanni Cirillo, Giovanni Piccirillo, Maria Rosaria Monsurrò   +7 more
core   +1 more source

Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy [PDF]

, 2014
Background: X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation ...
Aicua, Irene, Arenaza, Naroa, Cubo, Esther, Verhagen, Okker   +3 more
core   +2 more sources

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

Human Genetics, 2001
X-linked spinal and bulbar muscular atrophy is characterized by adult onset motor neuron disease and results from a defect in the androgen receptor. The disease is caused by a dynamic mutation in the first exon of the androgen receptor gene, involving a CAG trinucleotide repeat.
Georgiou, Iannis, Sermon, Karen, Lissens, Willy, De Vos, Anick, Platteau, Peter, Lolis, D., Van Steirteghem, Andre, Liebaers, Ingeborg   +7 more
openaire   +4 more sources

Pathogenesis of amyotrophic lateral sclerosis [PDF]

, 2016
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly progressive neurodegenerative disorder. The primary involvement is of motor neurons in the brain, spinal cord and peripherally. There is secondary weakness of muscles
Morgan, S, Orrell, RW
core   +1 more source

No evidence of cardiomyopathy in spinal and bulbar muscular atrophy

Acta Neurologica Scandinavica, 2013
Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat expansion within the androgen receptor (AR) gene. Toxic nuclear accumulation of mutant AR has been observed in tissues other than nervous system including cardiac muscle. Moreover, CAG polymorphism length within AR has been associated with an increased risk
Querin G, Melacini P, D'Ascenzo C, Morandi L, Mazzini L, Silani V, Romito S, Mandrioli J, Raimondi M, PEGORARO, ELENA, SORARU', GIANNI   +10 more
openaire   +3 more sources

Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis. [PDF]

, 2007
Background The causes of Amyotrophic Lateral Sclerosis (ALS) are unknown. A bulk of evidence supports the hypothesis that oxidative stress and mitochondrial dysfunction can be implicated in ALS pathogenesis.
A. Del Corona, Aldo Paolicchi, Alfonso Pompella, Cecilia Carlesi, FRANZINI, Maria, Gabriele Siciliano, Gino Malvaldi, Luigi Murri, Michelangelo Mancuso, Selina Piazza   +9 more
core   +1 more source

Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen

, 2022
Harriet Weststrate, Georgia Stimpson, Lily Thomas, Mariacristina Scoto, Emily Johnson, Alexandra Stewart, Francesco Muntoni, Giovanni Baranello, Eleanor Conway, SMA p‐FOIS Working Group*   +9 more
openalex   +1 more source

Molecular diagnosis of spinal and bulbar muscular atrophy in Slovakia

Bratislava Medical Journal, 2016
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.Molecular-genetic ...
H, Zelinkova, K Lexova, Kolejakova, P, Spalek, J, Chandoga, J, Konkolova, D, Bohmer   +5 more
openaire   +3 more sources