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2003 1
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Page 1
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, 2, 3, 6, 7, 17, and DRPLA), although of the remainder only SCAs 8, 10, 12, 14, 15/16, and 31 are frequent enough that the described …
However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs …
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.
Tremblay M, Girard-Côté L, Brais B, Gagnon C. Tremblay M, et al. Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1. Orphanet J Rare Dis. 2022. PMID: 36183078 Free PMC article. Review.
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is one of the most prevalent …
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal …
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K. Pauly MG, et al. Int J Mol Sci. 2023 Jan 18;24(3):1874. doi: 10.3390/ijms24031874. Int J Mol Sci. 2023. PMID: 36768210 Free PMC article. Review.
Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patients with intronic pathogenic variants: one patient with early onset severe spastic ataxia and debilitating tremor, which is com …
Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patien …
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
Bagaria J, Bagyinszky E, An SSA. Bagaria J, et al. Int J Mol Sci. 2022 Jan 4;23(1):552. doi: 10.3390/ijms23010552. Int J Mol Sci. 2022. PMID: 35008978 Free PMC article. Review.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in the population from the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region in Quebec. ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was origin …
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M. Tranchant C, et al. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Rev Neurol (Paris). 2016. PMID: 27476418 Review.
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to …
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) l …
Organophosphate-induced delayed polyneuropathy.
Lotti M, Moretto A. Lotti M, et al. Toxicol Rev. 2005;24(1):37-49. doi: 10.2165/00139709-200524010-00003. Toxicol Rev. 2005. PMID: 16042503 Review.
It is characterised by distal degeneration of some axons of both the peripheral and central nervous systems occurring 1-4 weeks after single or short-term exposures. Cramping muscle pain in the lower limbs, distal numbness and paraesthesiae occur, followed by progressive w …
It is characterised by distal degeneration of some axons of both the peripheral and central nervous systems occurring 1-4 weeks after …
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.
Peng F, Sun YM, Quan C, Wang J, Wu JJ. Peng F, et al. Orphanet J Rare Dis. 2019 Apr 25;14(1):83. doi: 10.1186/s13023-019-1053-1. Orphanet J Rare Dis. 2019. PMID: 31023339 Free PMC article. Review.
By reviewing the clinical manifestations of SPG76 patients, we validated the "spastic-ataxia" phenotype and emphasized the association between spasticity and ataxia, indicating the importance of CAPN1 screening in HSP patients....
By reviewing the clinical manifestations of SPG76 patients, we validated the "spastic-ataxia" phenotype and emphasized the ass …
[Autosomal recessive cerebellar ataxias].
Anheim M. Anheim M. Rev Neurol (Paris). 2011 May;167(5):372-84. doi: 10.1016/j.neurol.2010.07.021. Epub 2010 Nov 17. Rev Neurol (Paris). 2011. PMID: 21087783 Review. French.
STATE OF ART: Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fifteen years such as ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2), ataxia with vitamin E deficiency (AVED) and autos …
STATE OF ART: Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fi …
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
Berciano J, García A, Infante J. Berciano J, et al. Handb Clin Neurol. 2013;115:907-32. doi: 10.1016/B978-0-444-52902-2.00051-5. Handb Clin Neurol. 2013. PMID: 23931821 Review.
Classically, HA were classified according to their pathological hallmark comprising three main forms: (1) spinal form predominantly with degeneration of spinocerebellar tracts, posterior columns, and pyramidal tracts (Friedreich's ataxia, FA); (2) olivopontocerebellar atro …
Classically, HA were classified according to their pathological hallmark comprising three main forms: (1) spinal form predominantly w …
16 results