Results 141 to 150 of about 21,283 (267)

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

Frontiers in Neurology, 2019
The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs.
Marta Bellofatto, Giovanna De Michele, A. Iovino, A. Filla, F. Santorelli   +4 more
semanticscholar   +1 more source

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series

Annals of Clinical and Translational Neurology
Autosomal‐dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of ...
Alexandra K. Brooks, Vicente Quiroz, Luca Schierbaum, Amy Tam, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +5 more
doaj   +1 more source

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

Journal of Cell Biology, 2017
Contacts between endosomes and the endoplasmic reticulum (ER) promote endosomal tubule fission, but the mechanisms involved and consequences of tubule fission failure are incompletely understood. We found that interaction between the microtubule-severing
Rachel Allison, J. Edgar, Guy Pearson, Tania Rizo, T. Newton, Sven Günther, Fiamma Berner, J. Hague, J. Connell, J. Winkler, J. Lippincott-Schwartz, C. Beetz, B. Winner, E. Reid   +13 more
semanticscholar   +1 more source

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing [PDF]

, 2016
Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy.
Baklou, M, Breza, M, Houlden, H, Karadima, G, Koutsis, G, Lynch, DS, Panas, M, Tucci, A   +7 more
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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Brain : a journal of neurology, 2022
Jean-Loup Méreaux, G. Banneau, M. Papin, Giulia Coarelli, Rémi Valter, L. Raymond, Bophara Kol, Olivier Ariste, L. Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, C. Gautier, M. Guillaud-Bataille, S. Forlani, P. de la Grange, A. Brice, G. Vazza, A. Durr, E. Leguern, G. Stevanin   +20 more
semanticscholar   +1 more source

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

NeuroImage: Clinical, 2018
SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic Paraplegia. The disease has a wide phenotypic variability indicating many regions of the nervous system besides the corticospinal tract are affected.
Ingrid Faber, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Martins, Jr., Melina Pazian Martins, Charles Marques Lourenço, Wilson Marques, Jr., Celeste Montecchiani, Antonio Orlacchio, Jose Luiz Pedroso, Orlando Graziani Povoas Barsottini, Íscia Lopes-Cendes, Marcondes Cavalcante França, Jr.   +12 more
doaj   +1 more source

Genetic and metabolic diagnostic profile of children presented with spastic paraplegia/diplegia

Brain Disorders
Background: Spastic paraplegia/diplegia in children may be an early manifestation of underlying neurogenetic disorders which are often underdiagnosed in clinical practice.
Nebal Waill Saadi, Basma Adel Ibrahim, Qusay Abed Fahad, Henry Houlden, Rahema Mohammad, Mina Zamani, Adel A. Kareem, Ali Kadhim Al-Husseinawi, Hayder Kadhim Jabbar, Saif Hamed Farhan, Omar A.Thu Noon, Mays Al-Tai   +11 more
doaj   +1 more source

Identification of the Drosophila melanogaster homolog of the human spastin gene [PDF]

, 2018
The human SPG4 locus encodes the spastin gene, which is responsible for the most prevalent form of autosomal dominant hereditary spastic paraplegia (AD-HSP), a neurodegenerative disorder.
Burgunder, Jean-Marc, Kammermeier, Lars, Reichert, Heinrich, Spring, Jürg, Stierwald, Michael   +4 more
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Nature Communications, 2019
Disturbances in IP3 receptor-mediated release of Ca2+ from the endoplasmatic reticulum are associated with neurodegenerative disease. Here, the authors identify in four families with hereditary spastic paraplegia biallelic mutations in RNF170 that ...
Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle   +28 more
doaj   +1 more source

A novel mutation in SACS gene in a family from southern Italy [PDF]

, 2004
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC),
BANFI S, CRISCUOLO C, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, GASPARINI P, MONTICELLI A, ORIO M, PERRETTI, ANNA CARMELA AGNESE, SANTORELLI FM, SANTORO, LUCIO, SCARANO V   +10 more
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