Results 31 to 40 of about 16,402 (224)

A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene.
Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad   +6 more
doaj   +1 more source

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

Stem Cell Research, 2021
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1).
Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari   +7 more
doaj   +1 more source

SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. [PDF]

, 2010
Hereditary spastic paraplegias (HSPs, SPG1-46) are inherited neurological disorders characterized by lower extremity spastic weakness. Loss-of-function SPG20 gene mutations cause an autosomal recessive HSP known as Troyer syndrome.
Bakowska, Joanna C, Blackstone, Craig, Hurley, James H, Parker, Rell L, Renvoisé, Benoît, Yang, Dong   +5 more
core   +3 more sources

Mutations in the SPAST gene causing hereditary spastic paraplegia arerelated to global topological alterations in brain functional networks [PDF]

, 2019
Aim: Our aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene. Methods: Ten SPG4 patients and ten controls underwent a 5 min resting state magnetoencephalography recording and neurological ...
Antenora, A, Baselice, F, Criscuolo, C, De Michele, G, Jacini, F, Liparoti, M, Mandolesi, L, Rucco, R, Sorrentino, G, Sorrentino, P, Vettoliere, A   +10 more
core   +3 more sources

Use of Sugammadex in Strumpell-Lorrain Disease: a Report of Two Cases

Brazilian Journal of Anesthesiology, 2013
Content: : Strumpell-Lorrain disease - or familial spastic paraplegia (FSP) - is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, deafness, and ataxia ...
José Antonio Franco-Hernández, Luis Muñoz Rodríguez, Pilar Jubera Ortiz de Landázuri, Alejandra García Hernández   +3 more
doaj   +1 more source

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) [PDF]

, 2016
Objective: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with ...
Baets, Jonathan, Blackstone, Craig, Datiles, Manuel B, De Bleecker, Jan, De Jonghe, Peter, Deconinck, Tine, Edgar, James R, Hirst, Jennifer, Kruer, Michael C, Li, Jun, Liepert, Joachim, Madeo, Marianna, Mariotti, Caterina, Roda, Ricardo H, Schols, Ludger, Smets, Katrien, Van Aken, Elisabeth, Yarrow, Anna, Züchner, Stephan   +18 more
core   +2 more sources

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. [PDF]

PLoS ONE, 2017
Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed.
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft   +8 more
doaj   +1 more source

Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28

Biomedicines, 2023
Hereditary spastic paraplegia is a genetic neurological disorder characterized by spasticity of the lower limbs, and spastic paraplegia type 28 is one of its subtypes.
Takuya Morikawa, Masatomo Takahashi, Yoshihiro Izumi, Takeshi Bamba, Kosei Moriyama, Gohsuke Hattori, Ryuta Fujioka, Shiroh Miura, Hiroki Shibata   +8 more
doaj   +1 more source

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes [PDF]

, 2012
Background Reduction of retinal nerve fibre layer (RNFL) thickness was shown as part of the neurodegenerative process in a range of different neurodegenerative pathologies including Alzheimer′s disease (AD), idiopathic Parkinson’s disease (PD ...
Ahmad Zhour, Ludger Schöls, Manuel Dominik Fischer, Sarah Wiethoff   +3 more
core   +3 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   +1 more source