Results 11 to 20 of about 16,402 (224)

Multimodal MRI-based study in patients with SPG4 mutations. [PDF]

PLoS ONE, 2015
Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known.
Thiago J R Rezende, Milena de Albuquerque, Gustavo M Lamas, Alberto R M Martinez, Brunno M Campos, Raphael F Casseb, Cynthia B Silva, Lucas M T Branco, Anelyssa D'Abreu, Iscia Lopes-Cendes, Fernando Cendes, Marcondes C França   +11 more
doaj   +1 more source

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

Annals of Clinical and Translational Neurology, 2021
Objective Despite the need for diagnostics and research, data on fluid biomarkers in hereditary spastic paraplegia (HSP) are scarce. We, therefore, explore Neurofilament light chain (NfL) levels in cerebrospinal fluid (CSF) of patients with hereditary ...
Christoph Kessler, Lina M. Serna‐Higuita, Tim W. Rattay, Walter Maetzler, Isabel Wurster, Stefanie Hayer, Carlo Wilke, Holger Hengel, Jennifer Reichbauer, Marcel Armbruster, Ludger Schöls, Peter Martus, Rebecca Schüle   +12 more
doaj   +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

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia

BMC Medical Genetics, 2020
Background Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder.
Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan, Yining Huang   +4 more
doaj   +1 more source

Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia

Brain Sciences, 2021
Mutations of the SPAST gene that encodes the microtubule-severing enzyme called spastin are the chief cause of Hereditary Spastic Paraplegia. Growing evidence indicates that pathogenic mutations functionally compromise the spastin protein and endow it ...
Neha Mohan, Liang Qiang, Gerardo Morfini, Peter W. Baas   +3 more
doaj   +1 more source

Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias

Neural Regeneration Research, 2019
Impaired axonal development and degeneration underlie debilitating neurodegenerative diseases including hereditary spastic paraplegia, a large group of inherited diseases.
Yongchao Mou, Xue-Jun Li
doaj   +1 more source

In Silico Analysis of Variants of Uncertain Significance in AP4S1 Gene

Bioscientific Review, 2020
Hereditary spastic paraplegia is a group of heterogeneous neurological disorders with genetic etiologies. It is characterized by spasticity in lower limbs along with neurological complications.
Sobia Nazir Chaudry, Ammara Akhtar, Ayman Naeem, Dr. Mureed Husaain   +3 more
doaj   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 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