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Select item 111879611.

Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P. Verma, Rick Stell, Mark Davis, Phillipa Lamont

Ann Clin Transl Neurol. 2024 Jun; 11(6): 1636–1642. Published online 2024 May 3. doi: 10.1002/acn3.52064

PMCID:: PMC11187961

Abstract Article PDF–756K

Select item 109070832.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5

Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D’Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca

Brain. 2024 Mar; 147(3): 1043–1056. Published online 2023 Oct 7. doi: 10.1093/brain/awad340

PMCID:: PMC10907083

Abstract Article PDF–1.1M

Select item 105113693.

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Annalaura Torella, Ivana Ricca, Giulio Piluso, Daniele Galatolo, Giuseppe De Michele, Mariateresa Zanobio, Rosanna Trovato, Giovanna De Michele, Roberta Zeuli, Chiara Pane, Sirio Cocozza, Francesco Saccà, Filippo M. Santorelli, Vincenzo Nigro, Alessandro Filla

J Neurol. 2023; 270(10): 5057–5063. Published online 2023 Jul 7. doi: 10.1007/s00415-023-11816-w

PMCID:: PMC10511369

Abstract Article PDF–1.7M

Select item 103002474.

Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

Francesca Spagnolo, Edoardo Monfrini, Vincenza Pinto, Giovanni Di Maggio, Paolo De Marco, Giacomo P. Comi, Augusto Rini, Alessio Di Fonzo

Clin Park Relat Disord. 2023; 9: 100205. Published online 2023 Jun 7. doi: 10.1016/j.prdoa.2023.100205

PMCID:: PMC10300247

Abstract Article PDF–1.1M

Select item 101225845.

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod

Stem Cells Int. 2023; 2023: 1496597. Published online 2023 Apr 15. doi: 10.1155/2023/1496597

PMCID:: PMC10122584

Abstract Article PDF–2.7M

Select item 99563296.

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases

Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani

Genes (Basel) 2023 Feb; 14(2): 328. Published online 2023 Jan 27. doi: 10.3390/genes14020328

PMCID:: PMC9956329

Abstract Article PDF–7.1M

Select item 97207997.

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene

Rohan Sharma, Akilandeswari Aravindhan, Clara Puente, Aravindhan Veerapandiyan

J Investig Med High Impact Case Rep. 2022 Jan-Dec; 10: 23247096221139670. Published online 2022 Dec 2. doi: 10.1177/23247096221139670

PMCID:: PMC9720799

Abstract Article PDF–795K

Select item 95269808.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon

Orphanet J Rare Dis. 2022; 17: 369. Published online 2022 Oct 1. doi: 10.1186/s13023-022-02497-1

PMCID:: PMC9526980

Abstract Article PDF–1.4M

Select item 95112349.

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay

Samar Muslemani, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Bernard Brais, Jean Mathieu, Cynthia Gagnon

Can J Occup Ther. 2022 Sep; 89(3): 315–325. Published online 2022 Apr 26. doi: 10.1177/00084174221088417

PMCID:: PMC9511234

Abstract Article PDF–739K

Select item 915036010.

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports

Shan Wang, Yaye Wang, Yue Wu, Jinru Zhang, Weilin Zhang, Chang Li, Xueqin Song

BMC Neurol. 2022; 22: 200. Published online 2022 May 30. doi: 10.1186/s12883-022-02706-1

PMCID:: PMC9150360

Abstract Article PDF–2.0M

Select item 891850411.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey

Front Cell Dev Biol. 2022; 10: 783762. Published online 2022 Feb 28. doi: 10.3389/fcell.2022.783762

PMCID:: PMC8918504

Abstract Article PDF–2.7M

Select item 891769712.

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou

Cell Biosci. 2022; 12: 29. Published online 2022 Mar 11. doi: 10.1186/s13578-022-00754-1

PMCID:: PMC8917697

Abstract Article PDF–3.9M

Select item 884031513.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille

BMC Neurol. 2022; 22: 53. Published online 2022 Feb 12. doi: 10.1186/s12883-022-02553-0

PMCID:: PMC8840315

Abstract Article PDF–1.2M

Select item 881069814.

Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A‐related spastic ataxia

Trevor M. Sytsma, Dong‐Hui Chen, Bradley Rolf, Michael Dorschner, Suman Jayadev, C. Dirk Keene, Jing Zhang, Thomas D. Bird, Caitlin S. Latimer

Neuropathology. 2022 Feb; 42(1): 58–65. Published online 2021 Nov 9. doi: 10.1111/neup.12775

PMCID:: PMC8810698

Abstract Article PDF–1.6M

Select item 879367315.

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia

Christina Votsi, Antonis Ververis, Paschalis Nicolaou, Yiolanda-Panayiota Christou, Kyproula Christodoulou, Eleni Zamba-Papanicolaou

Front Genet. 2021; 12: 812640. Published online 2022 Jan 13. doi: 10.3389/fgene.2021.812640

PMCID:: PMC8793673

Abstract Article PDF–1.8M

Select item 875845716.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity

Izumi Aida, Tetsuo Ozawa, Hidehiko Fujinaka, Kiyoe Goto, Kentaro Ohta, Takashi Nakajima

Intern Med. 2021 Dec 15; 60(24): 3963–3967. Published online 2021 Jun 12. doi: 10.2169/internalmedicine.7401-21

PMCID:: PMC8758457

Abstract Article PDF–543K

Select item 874526017.

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration

Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An

Int J Mol Sci. 2022 Jan; 23(1): 552. Published online 2022 Jan 4. doi: 10.3390/ijms23010552

PMCID:: PMC8745260

Abstract Article PDF–4.1M

Select item 871233018.

Molecular Identity and Location Influence Purkinje Cell Vulnerability in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay Mice

Brenda Toscano Márquez, Anna A. Cook, Max Rice, Alexia Smileski, Kristen Vieira-Lomasney, François Charron, R. Anne McKinney, Alanna J. Watt

Front Cell Neurosci. 2021; 15: 707857. Published online 2021 Dec 14. doi: 10.3389/fncel.2021.707857

PMCID:: PMC8712330

Abstract Article PDF–10M

Select item 819234919.

Expanding the etiologic spectrum of spastic ataxia syndrome: chronic infection with human T lymphotropic virus type 1

Karolina af Edhom, Christer Lidman, Tobias Granberg, Graham P. Taylor, Martin Paucar

J Neurovirol. 2021; 27(2): 345–347. Published online 2021 Mar 22. doi: 10.1007/s13365-020-00932-2

PMCID:: PMC8192349

Abstract Article PDF–503K

Select item 813438520.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of MR Imaging in 5 Patients

M.-H. Martin, J.-P. Bouchard, M. Sylvain, O. St-Onge, S. Truchon

AJNR Am J Neuroradiol. 2007 Sep; 28(8): 1606–1608. doi: 10.3174/ajnr.A0603

PMCID:: PMC8134385

Abstract Article PDF–179K

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