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Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

• Authors : Rudaks LI; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia.

Subjects: Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/diagnosis ; Muscle Spasticity*/Muscle Spasticity*/Muscle Spasticity*/genetics Spastic Ataxia

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2025 Apr; Vol. 12 (4), pp. 832-841. Date of Electronic Publication: 2025 Feb 25.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Fingolimod Prevents Neuroinflammation but Has a Limited Effect on the Development of Ataxia in a Mouse Model for SCA1.

• Authors : Yang C; Department of Neuroscience, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands.; Gravendeel N

Subjects: Fingolimod Hydrochloride*/Fingolimod Hydrochloride*/Fingolimod Hydrochloride*/pharmacology ; Fingolimod Hydrochloride*/Fingolimod Hydrochloride*/Fingolimod Hydrochloride*/therapeutic use ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/drug therapy

• Source: International journal of molecular sciences [Int J Mol Sci] 2025 May 14; Vol. 26 (10). Date of Electronic Publication: 2025 May 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

• Authors : Liu H; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Li R

Subjects: Genes, Recessive* ; Heat-Shock Proteins*/Heat-Shock Proteins*/Heat-Shock Proteins*/genetics ; Muscle Spasticity*/Muscle Spasticity*/Muscle Spasticity*/genetics Spastic ataxia Charlevoix-Saguenay type

• Source: BMC medical genomics [BMC Med Genomics] 2025 May 03; Vol. 18 (1), pp. 83. Date of Electronic Publication: 2025 May 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut.

• Authors : Piotrowski D; Behavioral Neuroscience, Faculty for Biology and Biotechnology, Ruhr-University Bochum, ND7/32, Universitätsstr. 150, 44780, Bochum, Germany.; Clemensson EKH

Subjects: Ataxia* ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics; Animals

• Source: Scientific reports [Sci Rep] 2024 Apr 13; Vol. 14 (1), pp. 8571. Date of Electronic Publication: 2024 Apr 13.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.

• Authors : Stephen CD; Ataxia Center, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Cognitive Behavioral Neurology Unit, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Subjects: Gerstmann-Straussler-Scheinker Disease*/Gerstmann-Straussler-Scheinker Disease*/Gerstmann-Straussler-Scheinker Disease*/diagnosis ; Prions*/Prions*/Prions*/genetics ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/complications

• Source: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Apr; Vol. 11 (4), pp. 411-423. Date of Electronic Publication: 2024 Jan 23.Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Measurement Properties of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

• Authors : Potashman, Michele H.¹ (AUTHOR) ; Popoff, Evan² (AUTHOR); Powell, Lauren C.² (AUTHOR)

• Source: Neurology & Therapy. Apr2025, Vol. 14 Issue 2, p527-545. 19p.

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Sex Differences in a Novel Mouse Model of Spinocerebellar Ataxia Type 1 (SCA1).

• Authors : Selimovic A; Department of Neuroscience, University of Minnesota, 2101 6th Street SE, Minneapolis, MN 55455, USA.; Sbrocco K

Subjects: Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/genetics ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/pathology ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/metabolism

• Source: International journal of molecular sciences [Int J Mol Sci] 2025 Mar 14; Vol. 26 (6). Date of Electronic Publication: 2025 Mar 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.

• Authors : Romero-Molina AO; Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, Veracruz, Mexico.; Laboratorio de Neuropsicologia, Facultad de Medicina, Universidad Nacional Autonoma de Mexico, Ciudad de Mexico, Mexico.

Subjects: Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/complications ; Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/Spinocerebellar Ataxias*/psychology ; Cognitive Dysfunction*/Cognitive Dysfunction*/Cognitive Dysfunction*/diagnosisSpinocerebellar Ataxia 10

• Source: PloS one [PLoS One] 2025 Mar 03; Vol. 20 (3), pp. e0319505. Date of Electronic Publication: 2025 Mar 03 (Print Publication: 2025).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.

• Authors : Grassini A; Aging Brain and Memory Clinic, Department of Neuroscience, 'Rita Levi Montalcini', Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy. .; Cermelli A

Subjects: Cognitive Dysfunction*/Cognitive Dysfunction*/Cognitive Dysfunction*/diagnostic imaging ; Cognitive Dysfunction*/Cognitive Dysfunction*/Cognitive Dysfunction*/genetics ; Cognitive Dysfunction*/Cognitive Dysfunction*/Cognitive Dysfunction*/etiology Spinocerebellar Ataxia 17

• Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jun; Vol. 45 (6), pp. 2877-2880. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.

• Authors : Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Novis LE

Subjects: Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/diagnostic imaging ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics ; Spinocerebellar Degenerations*/Spinocerebellar Degenerations*/Spinocerebellar Degenerations*/genetics

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Oct; Vol. 10 (10), pp. 1910-1916. Date of Electronic Publication: 2023 Aug 08.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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