Results 81 to 90 of about 16,551 (265)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Hereditary Spastic Paraplegia [PDF]

, 2014
Hereditary spastic paraplegia (HSP) refers to a group of inherited disorders characterized by the loss of upper motor neurons, resulting in progressive, lower limb spasticity and weakness. HSPs are classified as pure/uncomplicated or complicated, and vary in symptoms, severity, age of onset, and genetic etiology.
openaire   +2 more sources

A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77

Annals of Clinical and Translational Neurology
FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo‐homozygous missense ...
Shu‐Huai Lin, Jun‐Hao Xie, Jun‐Yi Jiang, Xin‐Yu Yan, Chao‐Yin Hong, Wan‐Jin Chen, Ning Wang, Xiang Lin   +7 more
doaj   +1 more source

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. [PDF]

PLoS Genetics, 2015
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs.
Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner   +17 more
doaj   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Human Genome Variation, 2021
Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients.
Takuya Morikawa, Shiroh Miura, Takahisa Tateishi, Kazuhito Noda, Hiroki Shibata   +4 more
doaj   +1 more source

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [PDF]

, 2015
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures and spine deformities.
Amorim, Simone, Armas, Pablo, Calcaterra, Nora Beatriz, Coatti, Giuliana C., Coux, Gabriela, Figueiredo, Thalita, Gleeson, Joseph G., Griesi Oliveira, Karina, Kitajima, João P., Kok, Fernando, Macedo Souza, Lucia I., Martins Pinheiro, Marinalva, Melo, Uira S., Menck, Carlos F.M., Muotri, Alysson R, Olávio, Thiago R., Rocha, Clarissa R.R, Santos, Silvana, Zaki, Maha S., Zatz, Mayana   +19 more
core   +1 more source

Central Nervous System Bleeding in Children With Haemophilia in Limited Resource

Haemophilia, EarlyView.
ABSTRACT Introduction Central nervous system (CNS) bleeding in children with haemophilia is a life‐threatening complication that may cause severe neurological sequelae or death. In resource‐limited settings, where prophylaxis is not universally accessible, its patterns and outcomes may differ from those in high‐income countries.
Patcharee Komvilaisak, Sudarat Sirichaipornsak, Paiporn Sripraya, Napat Laoaroon, Kunanya Suwannaying, Pichayen Duanthongphon   +5 more
wiley   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia [PDF]

, 2018
Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the
Allison, R, Arning, L, Beetz, C, Depienne, C, Durr, A, Edgar, JR, Frahm, C, Goldberg, L, Kohl, Z, Lumb, JH, Manna, PT, Newton, T, Nygren, AOH, Reid, E, Rizo, T, Rodger, CE, Schöls, L, Schüle, R, Stevanin, G, Winner, B   +19 more
core   +1 more source