Results 1 to 10 of about 121,621 (353)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Brain, 2016
High-throughput next-generation sequencing can identify disease-causing mutations in extremely heterogeneous disorders. Kara et al . investigate a series of 97 index cases with complex hereditary spastic paraplegia (HSP).
Eleanna Kara, Henry Houlden, Claudia Manzoni   +2 more
exaly   +2 more sources

Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis [PDF]

Alzheimer’s Research & Therapy
Background Mutations in the presenilin 1 gene (PSEN1) are well-known causes of early-onset familial Alzheimer’s disease, but they can also present with atypical phenotypes such as pure spastic paraparesis.
Kang-Yang Jih, Ting-Rong Hsu, Jong-Ling Fuh, Tse-Hao Lee, Yung-Shuan Lin, Shih-Yu Fang, Yi-Chu Liao, Yi-Chung Lee   +7 more
doaj   +2 more sources

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

Movement Disorders, 2017
Matthis Synofzik, Rebecca Schüle
exaly   +2 more sources

Post-Stroke Spastic Movement Disorder and Botulinum Toxin A Therapy: Early Detection And Early Injection [PDF]

Annals of Rehabilitation Medicine, 2023
Post-stroke spastic movement disorder (PS-SMD) develops in up to 40% of stroke survivors after a first ever stroke within the first year. Chronic PS-SMD is often associated with severe disabilities and complications, emphasizing the importance of its ...
Jörg Wissel, Anatol Kivi
doaj   +1 more source

Effect of Pilates Exercises on Standing, Walking, and Balance in Children With Diplegic Cerebral Palsy [PDF]

Annals of Rehabilitation Medicine, 2022
Objective To analyze how Pilates exercises affect standing, walking, and balance in children with diplegic cerebral palsy throughout a 10-week program.
Hanaa Mohsen Abd-Elfattah, Dina Othman Shokri Morsi Galal, Mahmoud Ibrahim Elsayed Aly, Sobhy M. Aly, Tamer Emam Elnegamy   +4 more
doaj   +1 more source

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Experimental Neurology, 2014
Temistocle Lo Giudice, Filippo M Santorelli, Toshitaka Kawarai   +2 more
exaly   +2 more sources

APPLICATION OF MUSCLE INHIBITING TECHNIQUES TO CHILDREN WITH CEREBRAL PALSY [PDF]

Journal of IMAB, 2020
Purpose: The research aims to conduct a pilot study and monitor the effectiveness of a method of muscle-inhibition techniques applied to soft tissue contractures of the hip complex in children with cerebral palsy.
Mariya Gramatikova
doaj   +1 more source

Hereditary Spastic Paraplegia: An Update

International Journal of Molecular Sciences, 2022
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities.
A. Meyyazhagan, A. Orlacchio
semanticscholar   +1 more source

Nociception in the Glycine Receptor Deficient Mutant Mouse Spastic

Frontiers in Molecular Neuroscience, 2022
Glycine receptors (GlyRs) are the primary mediators of fast inhibitory transmission in the mammalian spinal cord, where they modulate sensory and motor signaling.
Teja Wolfgang Groemer, Antoine Triller, Hanns Ulrich Zeilhofer, Kristina Becker, Volker Eulenburg, Volker Eulenburg, Cord Michael Becker   +6 more
doaj   +1 more source

Clinical Presentation and Rehabilitation Outcome in a Case of Spastic Ataxic Syndrome Post-COVID-19 Infection

Indian Journal of Physical Medicine & Rehabilitation, 2022
In this report we describe a case of first episode of spastic cerebellar ataxia post COVID-19 infection, its clinical presentation, and treatment and rehabilitation outcome.
Anurag Ranga, Gourav Sannyasi, Meeka Khanna, Anupam Gupta, Navin B. Prakash   +4 more
doaj   +1 more source