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Select item 107485951.

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardella

Front Neurol. 2023; 14: 1296924. Published online 2023 Dec 7. doi: 10.3389/fneur.2023.1296924

PMCID:: PMC10748595

Abstract Article PDF–1.5M

Select item 102371422.

Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report

Jie Wang, Wei-Ting Bu, Mei-Jia Zhu, Ji-You Tang, Xiao-Min Liu

World J Clin Cases. 2023 May 16; 11(14): 3288–3294. Published online 2023 May 16. doi: 10.12998/wjcc.v11.i14.3288

PMCID:: PMC10237142

Abstract Article PDF–1.2M

Select item 97721733.

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

Tobias Lindig, Benjamin Bender, Eva Bürkle, Vinod Kumar, Ulrike Ernemann, Ludger Schöls, Tim W. Rattay

Sci Rep. 2022; 12: 22075. Published online 2022 Dec 21. doi: 10.1038/s41598-022-25545-z

PMCID:: PMC9772173

Abstract Article PDF–1.4M

Select item 97239234.

Dysarthria in hereditary spastic paraplegia type 4

Lais Alves Jacinto-Scudeiro, Rui Rothe-Neves, Vanessa Brzoskowski dos Santos, Gustavo Dariva Machado, Daniela Burguêz, Marina Martins Pereira Padovani, Annelise Ayres, Rafaela Soares Rech, Carelis González-Salazar, Marcondes Cavalcante França Junior, Jonas Alex Morales Saute, Maira Rozenfeld Olchik

Clinics (Sao Paulo) 2023 Jan-Dec; 78: 100128. Published online 2022 Dec 5. doi: 10.1016/j.clinsp.2022.100128

PMCID:: PMC9723923

Abstract Article PDF–350K

Select item 96572815.

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4

Christoph Kessler, Christoph Ruschil, Ahmed Abdelhak, Carlo Wilke, Aleksandra Maleska, Jens Kuhle, Markus Krumbholz, Markus C. Kowarik, Rebecca Schüle

Int J Mol Sci. 2022 Nov; 23(21): 13466. Published online 2022 Nov 3. doi: 10.3390/ijms232113466

PMCID:: PMC9657281

Abstract Article PDF–2.0M

Select item 89440016.

An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15

Geert Vander Stichele, Alexandra Durr, Grace Yoon, Rebecca Schüle, Craig Blackstone, Giovanni Esposito, Connor Buffel, Inês Oliveira, Christian Freitag, Stephane van Rooijen, Stéphanie Hoffmann, Leen Thielemans, Belinda S. Cowling

BMC Neurol. 2022; 22: 115. Published online 2022 Mar 24. doi: 10.1186/s12883-022-02595-4

PMCID:: PMC8944001

Abstract Article PDF–2.8M

Select item 89353227.

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Christoph Kessler, Lina Maria Serna‐Higuita, Carlo Wilke, Tim W. Rattay, Holger Hengel, Jennifer Reichbauer, Elke Stransky, Alejandra Leyva‐Gutiérrez, David Mengel, Matthis Synofzik, Ludger Schöls, Peter Martus, Rebecca Schüle

Ann Clin Transl Neurol. 2022 Mar; 9(3): 326–338. Published online 2022 Feb 16. doi: 10.1002/acn3.51518

PMCID:: PMC8935322

Abstract Article PDF–794K

Select item 79237278.

Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report

Takahiro Nagai, Yoko Sunami, Risa Kato, Megumi Sugai, Makoto Takahara, Kentaro Ohta, Hidehiko Fujinaka, Kiyoe Goto, Osamu Okanura, Takashi Nakajima, Tetsuo Ozawa

Case Rep Neurol. 2021 Jan-Apr; 13(1): 84–91. Published online 2021 Feb 15. doi: 10.1159/000512404

PMCID:: PMC7923727

Abstract Article PDF–388K

Select item 75786129.

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene

Haitian Nan, Kensho Okamoto, Lihua Gao, Yuto Morishima, Yuta Ichinose, Kishin Koh, Masaki Hashiyada, Noboru Adachi, Yoshihisa Takiyama

Intern Med. 2020 Sep 15; 59(18): 2311–2315. Published online 2020 Jun 9. doi: 10.2169/internalmedicine.4599-20

PMCID:: PMC7578612

Abstract Article PDF–329K

Select item 747575210.

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Nathaniel M. Robbins, Jillian R. Ozmore, Thomas L. Winder, Pedro Gonzalez-Alegre, Tanya M. Bardakjian

Case Rep Neurol Med. 2020; 2020: 7219514. Published online 2020 Aug 29. doi: 10.1155/2020/7219514

PMCID:: PMC7475752

Abstract Article PDF–363K

Select item 742744811.

Complicated SPG4 presenting with recurrent urinary tract infection

Kinsi Oberoi, Kabir S. Grewal, Leema Reddy Peddareddygari

J Community Hosp Intern Med Perspect. 2020; 10(4): 369–370. Published online 2020 Aug 2. doi: 10.1080/20009666.2020.1785609

PMCID:: PMC7427448

Abstract Article PDF–236K

Select item 678345712.

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia

V. A. Kadnikova, G. E. Rudenskaya, A. A. Stepanova, I. G. Sermyagina, O. P. Ryzhkova

Sci Rep. 2019; 9: 14412. Published online 2019 Oct 8. doi: 10.1038/s41598-019-50911-9

PMCID:: PMC6783457

Abstract Article PDF–1.6M

Select item 502705313.

Cognitive Impairment Involving Social Cognition in SPG4 Hereditary Spastic Paraplegia

Ludivine Chamard, Sabrina Ferreira, Alexa Pijoff, Manon Silvestre, Eric Berger, Eloi Magnin

Behav Neurol. 2016; 2016: 6423461. Published online 2016 Sep 4. doi: 10.1155/2016/6423461

PMCID:: PMC5027053

Abstract Article PDF–575K

Select item 432005614.

Multimodal MRI-Based Study in Patients with SPG4 Mutations

Thiago J. R. Rezende, Milena de Albuquerque, Gustavo M. Lamas, Alberto R. M. Martinez, Brunno M. Campos, Raphael F. Casseb, Cynthia B. Silva, Lucas M. T. Branco, Anelyssa D'Abreu, Iscia Lopes-Cendes, Fernando Cendes, Marcondes C. França, Jr

PLoS One. 2015; 10(2): e0117666. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0117666

PMCID:: PMC4320056

Abstract Article PDF–2.0M

Select item 425401015.

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia

Min-Yu Lan, Yung-Yee Chang, Tu-Hseuh Yeh, Szu-Chia Lai, Chia-Wei Liou, Hung-Chou Kuo, Yih-Ru Wu, Rong-Kuo Lyu, Jen-Wen Hung, Ying-Chao Chang, Chin-Song Lu

BMC Neurol. 2014; 14: 216. Published online 2014 Nov 25. doi: 10.1186/s12883-014-0216-x

PMCID:: PMC4254010

Abstract Article PDF–344K

Select item 399015616.

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons

Steven Havlicek, Zacharias Kohl, Himanshu K. Mishra, Iryna Prots, Esther Eberhardt, Naime Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C.N. Marchetto, Stefan Aigner, Heinrich Sticht, Teja W. Groemer, Ute Hehr, Angelika Lampert, Ursula Schlötzer-Schrehardt, Jürgen Winkler, Fred H. Gage, Beate Winner

Hum Mol Genet. 2014 May 15; 23(10): 2527–2541. Published online 2013 Dec 30. doi: 10.1093/hmg/ddt644

PMCID:: PMC3990156

Abstract Article PDF–2.3M

Select item 296464817.

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

Victoria Álvarez, Elena Sánchez-Ferrero, Christian Beetz, Marta Díaz, Belén Alonso, Ana I Corao, Josep Gámez, Jesús Esteban, Juan F Gonzalo, Samuel I Pascual-Pascual, Adolfo López de Munain, Germán Moris, Renne Ribacoba, Celedonio Márquez, Jordi Rosell, Rosario Marín, Maria J García-Barcina, Emilia del Castillo, Carmen Benito, Eliecer Coto

BMC Neurol. 2010; 10: 89. Published online 2010 Oct 8. doi: 10.1186/1471-2377-10-89

PMCID:: PMC2964648

Abstract Article PDF–677K

Select item 289380818.

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

Joanna M. Solowska, James Y. Garbern, Peter W. Baas

Hum Mol Genet. 2010 Jul 15; 19(14): 2767–2779. Published online 2010 Apr 29. doi: 10.1093/hmg/ddq177

PMCID:: PMC2893808

Abstract Article PDF–624K

Select item 259803819.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg, Giovanni Stevanin, Alexandra Durr, Alexis Brice

J Med Genet. 2007 Apr; 44(4): 281–284. Published online 2006 Nov 10. doi: 10.1136/jmg.2006.046425

PMCID:: PMC2598038

Abstract Article PDF–170K

Select item 247457820.

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform

Giuseppe Mancuso, Elena I Rugarli

BMC Biol. 2008; 6: 31. Published online 2008 Jul 9. doi: 10.1186/1741-7007-6-31

PMCID:: PMC2474578

Abstract Article PDF–1.0M

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