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Quoted phrase not found in phrase index: "Spastic ataxia 5"
Page 1
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Gagnon C, et al. Neurology. 2019 Oct 15;93(16):e1543-e1549. doi: 10.1212/WNL.0000000000008313. Epub 2019 Sep 18. Neurology. 2019. PMID: 31534027 Free PMC article.
OBJECTIVE: To develop a disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (DSI-ARSACS) that considers the 3 components (pyramidal, cerebellar, neuropathic) of the disease, and to document its content v …
OBJECTIVE: To develop a disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Sague …
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L, Sarto E, Castaldo A, Magri S, Mongelli A, Rossi Sebastiano D, Canafoglia L, Grisoli M, Malaguti C, Rivieri F, D'Amico MC, Di Bella D, Franceschetti S, Mariotti C, Taroni F. Nanetti L, et al. J Neurol. 2019 Feb;266(2):378-385. doi: 10.1007/s00415-018-9141-z. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515630
Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decl …
Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is char …
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM. Garcia-Cazorla À, et al. J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21. J Inherit Metab Dis. 2015. PMID: 25413954 Free article. Review.
Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure heredi …
Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPL …
Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder.
Kanzler CM, Lessard I, Gassert R, Brais B, Gagnon C, Lambercy O. Kanzler CM, et al. Ann Clin Transl Neurol. 2022 Apr;9(4):432-443. doi: 10.1002/acn3.51493. Epub 2022 Feb 27. Ann Clin Transl Neurol. 2022. PMID: 35224896 Free PMC article.
OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the second most frequent recessive ataxia and commonly features reduced upper limb coordination. ...RESULTS: Eight metrics had excellent test-retest reliability (intraclass correlation …
OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is the second most frequent recessive ataxia an …
Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
Divya KP, Cherian A, Dhing HK, Kumar S, Thomas B, Faruq M. Divya KP, et al. Acta Neurol Belg. 2024 Apr;124(2):475-484. doi: 10.1007/s13760-023-02400-0. Epub 2023 Oct 29. Acta Neurol Belg. 2024. PMID: 37898963
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sa …
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-ons …
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C. Bourcier D, et al. J Neurol Sci. 2020 Oct 15;417:117050. doi: 10.1016/j.jns.2020.117050. Epub 2020 Jul 18. J Neurol Sci. 2020. PMID: 32736199
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate for outcome measurement in foreseeable clinical trials in Autosomal Recessive Spastic Ataxia of Charlevoix-Sa …
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia an …
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Criscuolo C, Procaccini C, Meschini MC, Cianflone A, Carbone R, Doccini S, Devos D, Nesti C, Vuillaume I, Pellegrino M, Filla A, De Michele G, Matarese G, Santorelli FM. Criscuolo C, et al. J Neurol. 2015 Dec;262(12):2755-63. doi: 10.1007/s00415-015-7911-4. Epub 2015 Nov 3. J Neurol. 2015. PMID: 26530509
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease due to mutations in SACS, which encodes sacsin, a protein localized on the mitochondrial surface and possibly involved in mitochondrial dynamics. In view of the possibl …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease due to mutations in SACS, wh …
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.
Çakar A, İnci M, Özdağ Acarlı AN, Çomu S, Candayan A, Battaloğlu E, Tekgül Ş, Başak AN, Durmuş H, Parman Y. Çakar A, et al. Acta Neurol Scand. 2022 May;145(5):619-626. doi: 10.1111/ane.13592. Epub 2022 Feb 7. Acta Neurol Scand. 2022. PMID: 35130357
OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. ...CONCLUSIONS: Atypical clinical features in our patients highlight that the phenotypic spectrum of ARSACS can be observed in a wide range....
OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. ...CONCLUS …
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
The phenotype is characterized by adolescent-onset progressive spastic ataxia with frequent occurrence of tremor, involvement of the central sensory tracts and dental problems (hypodontia, early onset of severe and aggressive periodontal disease). ...These hyperinte …
The phenotype is characterized by adolescent-onset progressive spastic ataxia with frequent occurrence of tremor, involvement …
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR. Hosseini Bereshneh A, et al. Eur J Med Genet. 2020 May;63(5):103868. doi: 10.1016/j.ejmg.2020.103868. Epub 2020 Jan 28. Eur J Med Genet. 2020. PMID: 32004679
Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystrophy have been reported in few families around the world. ...In addition, wrist and foot drop due to peripheral axonal neuropathy were observed …
Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystrophy have …
23 results