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Quoted phrase not found in phrase index: "Spastic ataxia 2"
Page 1
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group; Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Chelban V, et al. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. Am J Hum Genet. 2017. PMID: 28575651 Free PMC article.
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional …
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degen …
POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J, Matilla-Dueñas A. Infante J, et al. J Neurol. 2020 Feb;267(2):324-330. doi: 10.1007/s00415-019-09574-9. Epub 2019 Oct 21. J Neurol. 2020. PMID: 31637490
Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic, c …
Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.190 …
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.
Linkage to chromosome 1p36 was found in this family with a logarithm of odds score of 3.1. The phenotypic spectrum in our 12 patients was broad. ...Disease onset ranged from infancy to 39 years, and symptoms were slowly progressive and included loss of independent ambulati …
Linkage to chromosome 1p36 was found in this family with a logarithm of odds score of 3.1. The phenotypic spectrum in our 12 patients …
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM. Di Donato I, et al. Neurol Sci. 2022 Feb;43(2):1071-1077. doi: 10.1007/s10072-021-05462-1. Epub 2021 Jul 23. Neurol Sci. 2022. PMID: 34296356 Free PMC article.
Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes to milder and later-onset gait disorders with central hypomyelination, with or without additional non-neurolog …
Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinat …
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 …
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. ...Therefore, we expanded the manifestations of NKX6-2-related disorders in th …
Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystroph …
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 …
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 …
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.
BACKGROUND: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. ...While most patients (7/9) showed the classical ARSACS triad, t …
BACKGROUND: Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identi …
37 results