Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
Statistical insights into major human muscular diseases. [PDF]
Hum Mol Genet, 2014 Gupta S +4 more
europepmc +1 more source
The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot–Marie–Tooth disease [PDF]
, 2015 Tiziana Lencioni +10 more
openalex +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Relationship between Muscular Activity and Postural Control Changes after Proprioceptive Focal Stimulation (Equistasi®) in Middle-Moderate Parkinson’s Disease Patients: An Explorative Study [PDF]
, 2021 Fabiola Spolaor +7 more
openalex +1 more source
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source