Results 11 to 20 of about 16,551 (265)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia [PDF]

Brain, 2016
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological ...
Bettencourt, Conceicao, Bhatia, Kailash, Brandner, Sebastian, Chelban, Viorica, Elpidorou, Marilena, Federoff, Monica, Hamed, Sherifa, Hardy, John, Haridy, Nourelhoda, Houlden, Henry, Hughes, Deborah, Jaunmuktane, Zane, Kara, Eleanna, Korlipara, Prasad, Lewis, Patrick, Lynch, David S., Manole, Andreea, Manzoni, Claudia, Morris, Huw, Pittman, Alan, Preza, Elisavet, Proukakis, Christos, Schottlaender, Lucia, Singleton, Andrew, Tucci, Arianna, Warner, Tom, Wiethoff, Sarah, Wood, Nicholas, Xiromerisiou, Georgia   +28 more
core   +5 more sources

Balance rehabilitation with a virtual reality protocol for patients with hereditary spastic paraplegia: Protocol for a clinical trial.

PLoS ONE, 2021
BackgroundNeurodegenerative diseases are sporadic hereditary conditions characterized by progressive dysfunction of the nervous system. Among the symptoms, vestibulopathy is one of the causes of discomfort and a decrease in quality of life.
Bianca Simone Zeigelboim, Maria Renata José, Geslaine Janaina Bueno Dos Santos, Maria Izabel Rodrigues Severiano, Hélio Afonso Ghizoni Teive, José Stechman-Neto, Rosane Sampaio Santos, Cristiano Miranda de Araújo, Bianca Lopes Cavalcante-Leão   +8 more
doaj   +1 more source

Hereditary spastic paraplegia

Neurological Sciences, 2021
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders which involve the corticospinal tracts and present with distinct spasticity and weakness of the lower extremities. The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types.
Sireesha Murala, Elanagan Nagarajan, Pradeep C. Bollu   +2 more
openaire   +3 more sources

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

Hereditary spastic paraplegias

Ceylon Medical Journal, 2009
Molecular genetics may hold the key to precise diagnosis, including prenatal diagnosis and management doi: 10.4038/cmj.v51i1.1366 Ceylon Medical Journal Vol.51(1) 2006 1 ...
K K, Lau, C K, Ching, Chloe M, Mak, Y W, Chan   +3 more
openaire   +5 more sources

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