Results 101 to 110 of about 21,283 (267)

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Annals of Neurology, 2021
Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic disorder characterized by lower‐extremity spasticity. Here, we set out to determine the genetic basis of an autosomal dominant, pure, and infantile‐onset form of HSP in a cohort of ...
Claudia Schob, M. Hempel, D. Brožková, Huafang Jiang, S. Kim, N. A. Batzir, N. Orenstein, T. Bierhals, J. Johannsen, A. Mészárosová, J. Chae, P. Seeman, M. Woidy, Fang Fang, C. Kubisch, S. Kindler, J. Denecke   +16 more
semanticscholar   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C 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 R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Philip Höflinger, Yvonne Theurer, Rebecca Schüle, Ludger Schöls, Stefan Hauser   +4 more
doaj   +1 more source

A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene

eNeurologicalSci, 2022
Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity,
Kensuke Daida, Yosuke Nishioka, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Nobutaka Hattori, Kenya Nishioka   +6 more
doaj   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain : a journal of neurology, 2020
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (
D. Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D’Amore, K. Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M. Jensen, Premsai Nagabhyrava, G. Geisel, Erin Carmody, Uzma Shamshad, K. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, D. Ebrahimi-Fakhari, T. Pearson, Afshin Saffari, A. Ziegler, S. Kölker, J. Volkmann, Antje Wiesener, D. Bearden, Shenela Lakhani, D. Segal, A. Udwadia-Hegde, A. Martinuzzi, Jennifer Hirst, Seth Perlman, Y. Takiyama, G. Xiromerisiou, K. Vill, W. Walker, A. Shukla, Rachana Dubey Gupta, N. Dahl, A. Aksoy, H. Verhelst, M. Delgado, Radka Kremlíková Pourová, A. Sadek, N. Elkhateeb, Lubov Blumkin, A. Brea-Fernández, David Dacruz-Álvarez, T. Smol, J. Ghoumid, D. Miguel, Constanze Heine, J. Schlump, H. Langen, J. Baets, S. Bulk, H. Darvish, S. Bakhtiari, M. Kruer, Elizabeth R Lim-Melia, N. Aydınlı, Y. Alanay, O. El-Rashidy, S. Nampoothiri, C. Patel, C. Beetz, P. Bauer, G. Yoon, Mireille Guillot, Steven P. Miller, Thomas Bourinaris, H. Houlden, L. Robelin, M. Anheim, Abdullah AlAmri, A. Mahmoud, S. Inaloo, P. Habibzadeh, M. Faghihi, A. Jansen, Stefanie Brock, A. Roubertie, B. Darras, P. Agrawal, F. Santorelli, J. Gleeson, M. Zaki, S. Sheikh, James T. Bennett, M. Sahin   +87 more
semanticscholar   +1 more source

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

BMC Neurology, 2021
Background CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system.
Ashraf Yahia, Z. Chen, A. Ahmed, Sara Emad, Rawaa Adil, R. Abubaker, Shaimaa Taha, M. Salih, L. Elsayed, H. Chan, G. Stevanin   +10 more
semanticscholar   +1 more source

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA, BILO, LEONILDA, CRISCUOLO, CHIARA, de Leva M.F., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Longo D., Pappatà S., PELUSO, SILVIO, QUARANTELLI, MARIO, Santorelli F.M., Tessa A.   +11 more
core  

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [PDF]

, 2015
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities.
Amorim, Simone, Armas, Pablo, Calcaterra, Nora Beatriz, Coatti, Giuliana C., Coux, Gabriela, Figueiredo, Thalita, Gleeson, Joseph G., Griesi Oliveira, Karina, Kitajima, João P., Kok, Fernando, Macedo Souza, Lucia I., Martins Pinheiro, Marinalva, Melo, Uira S., Menck, Carlos F.M., Muotri, Alysson R, Olávio, Thiago R., Rocha, Clarissa R.R, Santos, Silvana, Zaki, Maha S., Zatz, Mayana   +19 more
core   +1 more source

Electrical Stimulation of Denervated Muscle: A Narrative Review

Artificial Organs, EarlyView.
This review explores existing strategies for stimulating denervated muscle following lower motor neuron injury, including direct electrical stimulation of the muscle and artificial reinnervation to enable more comfortable and efficient indirect functional muscle stimulation.
Linshan Chu, Jonathan C. Jarvis, Brian J. Andrews, James J. FitzGerald   +3 more
wiley   +1 more source

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia

Frontiers in Molecular Biosciences, 2021
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous conditions caused by the progressive dying back of the longest axons in the central nervous system, the corticospinal axons.
Nimesha Tadepalle, E. Rugarli
semanticscholar   +1 more source