Results 111 to 120 of about 11,333 (226)
Chronic inflammatory demyelinating polyneuropathy is an autoimmune disorder causing demyelination, leading to distal weakness, sensory loss, and autonomic dysfunction. Immune activation triggers macrophage‐mediated myelin damage and conduction failure.
Ayesha Khan +11 more
wiley +1 more source
Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts [PDF]
Polyglutamine (PolyQ) diseases are a group of neurodegenerative disorders caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the coding region of specific genes.
Acquatella-Tran Van Ba +385 more
core +1 more source
No evidence of cardiomyopathy in spinal and bulbar muscular atrophy
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 +10 more
openaire +3 more sources
Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley +1 more source
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR). We report the generation of induced pluripotent stem cell (iPSC) lines from two SBMA patients and their ...
Gunaseelan Narayanan +3 more
doaj +1 more source
Cognitive Dysfunction Is Associated With an Underestimation of Respiratory Function in ALS
ABSTRACT Introduction/Aims The association between low forced vital capacity (FVC) and cognitive impairment in ALS is ambiguous; it could be due to respiratory dysfunction and/or poor effort from cognitive deficits. We used the objective, non‐volitional phrenic nerve motor response amplitude (PAmp) to clarify how cognitive status affects the ...
Horácio de Jesus +8 more
wiley +1 more source
Amyotrophic Lateral Sclerosis and Multiple Sclerosis Overlap: A Case Report [PDF]
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 +7 more
core +1 more source
Molecular diagnosis of spinal and bulbar muscular atrophy in Slovakia
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 +5 more
openaire +3 more sources
Enteric Nervous System Damage by Food Contaminants: A Pathway to Neurodegeneration?
ABSTRACT The enteric nervous system (ENS), a key component of the gut–brain axis, has emerged as a critical player in the pathogenesis of Parkinson's disease (PD). It is the first neural system exposed to food contaminants (FCs)—a diverse group of ubiquitous toxic compounds fortuitously present in food derived from production, processing, storage, or ...
Helena Ramos +3 more
wiley +1 more source
ABSTRACT The proposed Enhanced Games have become a convenient stage for bioethical sermonising about risk, authenticity, and the “spirit of sport”. This is epitomized by a recent article arguing that institutionalizing pharmacological enhancement under the “pretence of medical supervision and personal autonomy” would redefine human excellence in ...
Ognjen Arandjelović
wiley +1 more source

