Results 41 to 50 of about 124,080 (339)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

A review of the effectiveness of lower limb orthoses used in cerebral palsy [PDF]

, 2009
To produce this review, a systematic literature search was conducted for relevant articles published in the period between the date of the previous ISPO consensus conference report on cerebral palsy (1994) and April 2008.
Bowers, Roy, ISPO (Funder), Ross, Karyn
core  

Non-speech oro-motor exercise use in acquired dysarthria management : regimes and rationales [PDF]

, 2011
Non-speech oro-motor exercises (NSOMExs) are described in speech and language therapy (SLT) manuals, and are thought to be much used in acquired dysarthria intervention, though there is no robust evidence of an influence on speech outcome.
Allen, Carolyn, Mackenzie, Catherine, Muir, Margaret   +2 more
core   +1 more source

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]

, 2020
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C, Baple, E, Baptista, J, Caswell, R, Cunningham, MH, Dean, J, Durigon, R, Durlacher-Betzer, K, Ellard, S, Fernandez Pelayo, U, Grochowski, CM, Gunning, AC, Harel, T, Holt, IJ, Homfray, T, Jones, AWE, Lahiri, N, Lupski, JR, Misra, VK, Muñoz Oreja, M, Parrish, A, Scurr, I, Spinazzola, A, Stals, KL, Strucinska, K, Taylor, RW, Tysoe, C, Wright, CF, Yoon, WH   +28 more
core   +3 more sources

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

eNeurologicalSci, 2019
Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy.
Keisuke Yoshikawa, Motoi Kuwahara, Kazumasa Saigoh, Hiroyuki Ishiura, Yuko Yamagishi, Yuta Hamano, Makoto Samukawa, Hidekazu Suzuki, Makito Hirano, Yoshiyuki Mitsui, Shoji Tsuji, Susumu Kusunoki   +11 more
doaj   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

A Brief Analysis Of The Rehabilitation Systems Of Children With Spastic Forms Of Motor Disorders [PDF]

, 2018
The article briefly analyzes the main studies in the field of overcoming spasticity within the confines of medical and partly pedagogical approaches. It was singled out the range of the main aspects that can be used as a basis for the correction of motor
Moga, N. (Nikolay)
core  

Predictability of cerebral palsy and its characteristics through neonatal cranial ultrasound in a high-risk neonatal intensive care unit population [PDF]

, 2010
The aim of the study is to evaluate the predictive value of various types of brain injury detected by ultrasound in the neonatal period for the occurrence of cerebral palsy and its characteristics in a large cohort of high-risk infants.
Franki, Inge, Himpens, Eveline, Oostra, Ann, Van den Broeck, Christine, VAN MAELE, GEORGES, Vanhaesebrouck, Piet   +5 more
core   +2 more sources

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +11 more
wiley   +1 more source

Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61

Journal of Pediatric Surgery Case Reports, 2021
Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited.
E.K. Ninmer, M.C. Spaeder, C.M. Peroutka, D.E. Levin   +3 more
doaj   +1 more source