Structural Alterations in the Gray Matter Volume in Rapid‐Onset Dystonia‐Parkinsonism
Abstract Background Previously, we identified decreased thalamic blood flow in patients with ATP1A3 variants. Objective This study evaluated structural gray matter organization in rapid‐onset dystonia‐parkinsonism (RDP) patients compared with controls and two phenotypically overlapping movement disorders.
Ihtsham U. Haq +7 more
wiley +1 more source
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj
Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange +37 more
wiley +1 more source
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski +23 more
wiley +1 more source
Objective To compare the efficacy and safety of vagus nerve stimulation using different modes in patients with drug‐resistant epilepsy (DRE). Methods Children with DRE who underwent vagus nerve stimulator implantation between March 2019 and December 2022
Yuying Pan +9 more
doaj +1 more source
Progress in Epileptic Disorders – Progress in Epileptic Spasms and West Syndrome. 2007. By Franco Guzzetta, Bernardo Dalla Bernardina, Renzo Guerrini. Published by Editions John Libbey Eurotext. 184 pages. Price C$100. [PDF]
Peter Comfield
openalex +1 more source
Prediction model for long-term seizure and developmental outcomes among children with infantile epileptic spasms syndrome [PDF]
Yuto Arai +8 more
openalex +1 more source
The “second‐hit” hypothesis proposes that both a genetic predisposition and an environmental insult—such as peripheral nerve trauma or spinal cord injury—are required for dystonia development. This review explores how neuroinflammation and maladaptive plasticity, triggered by nerve and spinal cord injury, contribute to dystonia pathogenesis.
Lisa Harder‐Rauschenberger +1 more
wiley +1 more source
Demographic characteristics and clinical presentation of infants with infantile epileptic spasms syndrome and their response to therapy: Data from Sri Lanka Infantile Spasms Registry [PDF]
Jithangi Wanigasinghe +6 more
openalex +1 more source
Long‐term outcome of presumptive idiopathic hyperesthesia syndrome in a dog treated with fluoxetine
Abstract A 9‐year‐old, 10 kg, male, neutered, mixed‐breed dog was evaluated for a history of daily episodes of thoracic and lumbar hair horripilation with potential hypersensitivity and discomfort for at least 1 year, as reported by the owner. Dermatological disease was ruled out.
Claudia Pauciulo, Antonella Gallucci
wiley +1 more source

