Results 11 to 20 of about 21,283 (267)

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   +2 more sources

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   +2 more sources

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Journal of Clinical Investigation, 2023
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent ...
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, R. Mattera, K. Eberhardt, Marvin Ziegler, Terry Pirovolakis, M. Sahin, J. Bonifacino, D. Ebrahimi‐Fakhari, S. Gray   +11 more
semanticscholar   +1 more source

Hereditary Spastic Paraplegia: An Update

International Journal of Molecular Sciences, 2022
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities.
A. Meyyazhagan, A. Orlacchio
semanticscholar   +1 more source

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review

Genes, 2023
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. There is no disease-modifying treatment currently available. Therefore, standardized, validated outcome measures to facilitate clinical trials are urgently needed.
Sue-Faye Siow, D. Yeow, L. Rudaks, F. Jia, G. Wali, Carolyn M. Sue, Kishore R Kumar   +6 more
semanticscholar   +1 more source

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

Movement Disorders, 2023
Adaptor protein complex 4‐associated hereditary spastic paraplegia (AP‐4‐HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1.
Julian E. Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, A. Tam, Soyoung Kim, E. Leung, K. Szczałuba, H. Mierzewska, S. King, F. Santorelli, G. Yoon, B. Trombetta, Pia Kivisäkk, Bo Zhang, M. Sahin, D. Ebrahimi‐Fakhari   +16 more
semanticscholar   +1 more source

New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia

European Journal of Neurology, 2023
Microtubule defects are a common feature in several neurodegenerative disorders, including hereditary spastic paraplegia. The most frequent form of hereditary spastic paraplegia is caused by mutations in the SPG4/SPAST gene, encoding the microtubule ...
F. Sardina, Davide Valente, Gaia Fattorini, E. Cioffi, Gianmarco Dalla Zanna, A. Tessa, D. Trisciuoglio, S. Soddu, F. Santorelli, C. Casali, C. Rinaldo   +10 more
semanticscholar   +1 more source

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

Annals of Clinical and Translational Neurology, 2023
NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in a Taiwanese HSP cohort.
S. Fang, Ying-Tsen Chou, K. Hsu, Shao-Lun Hsu, K. Yu, Yu-Shuen Tsai, Y. Liao, P. Tsai, Yi-Chung Lee   +8 more
semanticscholar   +1 more source

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

International Journal of Molecular Sciences, 2022
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP).
A. Meyyazhagan, Haripriya Kuchi Bhotla, Manikantan Pappuswamy, A. Orlacchio   +3 more
semanticscholar   +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