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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.
Groh M, Albulescu LO, Cristini A, Gromak N. Groh M, et al. J Mol Biol. 2017 Oct 27;429(21):3181-3195. doi: 10.1016/j.jmb.2016.10.021. Epub 2016 Oct 19. J Mol Biol. 2017. PMID: 27771483 Review.
They play crucial biological functions and are implicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, nucleotide expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer. ...Mutations in SETX are linked to two …
They play crucial biological functions and are implicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, …
Spinocerebellar ataxia with ocular motor apraxia and DNA repair.
Onodera O. Onodera O. Neuropathology. 2006 Aug;26(4):361-7. doi: 10.1111/j.1440-1789.2006.00741.x. Neuropathology. 2006. PMID: 16961074 Review.
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxi …
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with oc …
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Paucar M, et al. Tremor Other Hyperkinet Mov (N Y). 2019 Oct 10;9. doi: 10.7916/tohm.v0.708. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31656689 Free PMC article. Review.
BACKGROUND: Ataxias represent a challenging group of disorders due to significant clinical overlap. ...CASE REPORT: Ataxia, polyneuropathy, and mild elevation of AFP are features compatible with ataxia with oculomotor apraxia type 2 (AOA2 …
BACKGROUND: Ataxias represent a challenging group of disorders due to significant clinical overlap. ...CASE REPORT: Ataxia, po …
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Bennett CL, La Spada AR. Bennett CL, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1745. doi: 10.1002/mgg3.1745. Epub 2021 Jul 14. Mol Genet Genomic Med. 2021. PMID: 34263556 Free PMC article. Review.
SETX mutations underlie two inherited neurodegenerative diseases: Ataxia with Oculomotor Apraxia type 2 (AOA2) and Amyotrophic Lateral Sclerosis type 4 (ALS4). ...In addition, AOA2 point mutations have been shown to block SETX SUMOylation …
SETX mutations underlie two inherited neurodegenerative diseases: Ataxia with Oculomotor Apraxia type 2 (AOA2) a …
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM. Salman MS, et al. Can J Neurol Sci. 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. Can J Neurol Sci. 2013. PMID: 23419574 Review.
Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. ...The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired in 69.8% and 34.4% respectively. Smooth ocular …
Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. ... …