Results 91 to 100 of about 21,283 (267)

Hereditary spastic paraplegia initially diagnosed as cerebral palsy

Clinical Parkinsonism & Related Disorders, 2021
Introduction Spastic diplegia presenting in infancy is common to both cerebral palsy (CP) and hereditary spastic paraplegia (HSP). We report the clinical and genetic features of a cohort of Alberta patients with a diagnosis of HSP, who were initially ...
O. Suchowersky, S. Ashtiani, Ping-Yee B Au, Scott A McLeod, M. Estiar, Z. Gan-Or, G. Rouleau   +6 more
semanticscholar   +1 more source

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia

Journal of Rehabilitation Medicine, 2019
Objective: To investigate the functional effects of bilateral botulinum toxin A treatment and subsequent stretching of spastic hip adductors on gait and reactive lateral stepping responses in patients with pure hereditary spastic paraplegia ...
Bas J.H. van Lith, Jasper den Boer, Bart P.C. van de Warrenburg, Vivian Weerdesteyn, Alexander C. Geurts   +4 more
doaj   +1 more source

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation

The Turkish Journal of Pediatrics, 2017
Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability.
Gonca Bektaş, Gözde Yeşil, Edibe Pembegül Yıldız, Nur Aydınlı, Mine Çalışkan, Meral Özmen   +5 more
doaj   +1 more source

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76

Case Reports in Neurological Medicine, 2019
Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We
Jesus Eduardo Garcia-Berlanga, Mariana Moscovich, Isaac Jair Palacios, Alejandro Banegas-Lagos, Augusto Rojas-Martinez, Daniel Martinez-Ramirez   +5 more
doaj   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls   +4 more
doaj   +1 more source

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests [PDF]

, 2018
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes May help in monitoring
Gómez-Andrés, David, López-López, Javier, Martín-Gonzalo, Juan Andrés, Pascual-Pascual, Samuel Ignacio, Pulido-Valdeolivas, Irene, Rausell, Estrella, Rodríguez-Andonaegui, Irene, Universitat Autònoma de Barcelona   +7 more
core   +5 more sources

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

Human Molecular Genetics, 2020
Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants in AP-
Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D’Amore, A. Davies, Joseph M. Scarrott, K. Eberhardt, Barbara Brechmann, I. Chen, E. Buttermore, L. Barrett, S. Dwyer, Teresa Chen, Jennifer Hirst, Antje Wiesener, D. Segal, A. Martinuzzi, S. Duarte, James T. Bennett, Thomas Bourinaris, H. Houlden, A. Roubertie, F. Santorelli, M. Robinson, M. Azzouz, J. Lipton, Georg H. H. Borner, M. Sahin, D. Ebrahimi‐Fakhari   +28 more
semanticscholar   +1 more source