Results 11 to 20 of about 132,494 (221)

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management [PDF]

SAGE Open Medicine, 2023
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many
Wireko Andrew Awuah, Joecelyn Kirani Tan, Anastasiia D Shkodina, Tomas Ferreira, Favour Tope Adebusoye, Adele Mazzoleni, Jack Wellington, Lian David, Ellie Chilcott, Helen Huang, Toufik Abdul-Rahman, Vallabh Shet, Oday Atallah, Jacob Kalmanovich, Riaz Jiffry, Divine Elizabeth Madhu, Kateryna Sikora, Oleksii Kmyta, Mykhailo Yu Delva   +18 more
doaj   +6 more sources

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

Stem Cell Research, 2022
Hereditary spastic paraplegia 56 (SPG56) is an extremely rare autosomal recessive disorder caused by mutations in the CYP2U1 gene, involved in fatty acid metabolism.
Hannah C. Leeson, Denise Goh, David Coman, Ernst J. Wolvetang   +3 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

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   +2 more sources

Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Fattorini G, Licursi V, Zanna GD, Dal Canto F, Barghigiani M, Setola N, Rossi S, Funcis A, Santorelli FM, Silvestri G, Casali C, Sardina F, Rinaldo C.   +12 more
europepmc   +2 more sources

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia

Annals of Clinical and Translational Neurology
Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical, electrophysiological, pathological, and genetic characteristics of a Chinese ...
Yusen Qiu, Ying Xiong, Lulu Wang, Min Zhu, Dandan Tan, Daojun Hong   +5 more
doaj   +2 more sources

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia [PDF]

, 2022
INTRODUCTION: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (
Bueno, Clarissa, Lucato, Leandro Tavares, Almeida, Mariana Espíndola de Castro, Houlden, Henry, Lynch, David S, Nóbrega, Paulo Ribeiro, Kok, Fernando, Della-Ripa, Bruno, Cunha, Paulina, Freua, Fernando, Macedo-Souza, Lúcia Inês, Paiva, Anderson Rodrigues Brandáo de   +11 more
core   +2 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

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia [PDF]

, 2023
Background and purpose: 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 ...
Sardina, Francesca, Fattorini, Gaia, Trisciuoglio, Daniela, Soddu, Silvia, Rinaldo, Cinzia, Casali, Carlo, Cioffi, Ettore, Zanna, Gianmarco Dalla, Valente, Davide, Santorelli, Filippo M, Tessa, Alessandra   +10 more
core   +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