Results 191 to 200 of about 20,218 (296)

Square wave jerks in cerebellar ataxia

When frequent square wave jerks (SWJ) are noted on examination (especially in a patient of advanced age), the examiner should look for signs of Parkinsonism as well as cerebellar ataxia.
Daniel R. Gold, DO
core  

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Clinical case of a pregnant woman with arteriovenous malformation, hemorrhagic venous infarcts and epileptic seizures: a case report. [PDF]

J Med Case Rep
Vasilev P, Viteva E.
europepmc   +1 more source

Real‐World Patterns of Botulinum Toxin Treatment in Hyperkinetic Movement Disorders: A 9‐Year Nationwide Analysis in France

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hyperkinetic movement disorders, including dystonia, tremor, and myoclonus, are disabling conditions often managed with botulinum toxin type A (BoNT‐A). Real‐world evidence on treatment patterns remains limited. Objective This nationwide, population‐based study aimed to evaluate trends in BoNT‐A use in France between 2015 and 2023 ...
Marion Simonetta‐Moreau, Pierre Karam, Anne Forestier, Bertrand Degos   +3 more
wiley   +1 more source

Solitary Confinement: Surprising Post-Copulatory Behaviour of an Australian Species of Wishbone Spider (Mygalomorphae: Anamidae: <i>Aname</i>). [PDF]

Ecol Evol
Piccinini A, Wilson JD, Harvey MS, Rix MG, Wong KSN, Simmons LW.   +5 more
europepmc   +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

Movement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai, Rukmini Mridula Kandadai, Sahil Mehta, Pettarusp Murzban Wadia, Deepika Joshi, Lulup Sahoo, Vijayashankar Paramanandam, Taallapalli Ashok Vardhan Reddy, Adreesh Mukherjee, Syam Krishnan, Kuldeep Shetty, Charulata Sankhla, Pankaj Agarwal, Heli S. Shah, Suvorit Bhowmick, Mitesh Chandarana, Malini Venkata, Thenral S. Geetha, Ramesh Menon, Sandeep Charugulla, Sakthivel Murugan, Ravi Gupta, Niraj Kumar, Atanu Biswas, Hrishikesh Kumar, Rupam Borgohain, Huw Morris, Vedam. L Ramprasad, Parkinson's Research Alliance of India (PRAI) and the Global Parkinson's Genetic Program (GP2)   +31 more
wiley   +1 more source

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Mol Genet Metab
Minea C, Deegan PB.
europepmc   +1 more source

Lance-Adams syndrome or chronic post-hypoxic myoclonus in adults: a systematic literature review. [PDF]

Brain Commun
Vellieux G, Apartis E, Navarro V.
europepmc   +1 more source

High Prevalence and Clinical Impact of Fibromyalgia in Functional Motor Disorder

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fibromyalgia is characterized by widespread pain, fatigue, sleep and cognitive symptoms. It overlaps clinically with functional motor disorder (FMD), yet its prevalence and impact in FMD remain uncertain. Objective To determine the prevalence of fibromyalgia in FMD using the current criteria and evaluate its effects on motor ...
Tereza Serranová, Lucia Nováková, Martin Jirásek, Barbora Křupková, Evžen Růžička, Michele Tinazzi, Tomáš Sieger   +6 more
wiley   +1 more source

Case Report: Vagus nerve stimulation in super-refractory status epilepticus: Delayed seizure control and focal cortical knife-blade atrophy. [PDF]

Epilepsy Behav Rep
Parak A, Holzhausen A, Pirker S, Kasprian G, Trinka E, Pirker W.   +5 more
europepmc   +1 more source