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Quoted phrase not found in phrase index: "Spastic ataxia 7"
Page 1
Recessive ataxias.
Synofzik M, Németh AH. Synofzik M, et al. Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Handb Clin Neurol. 2018. PMID: 29891078 Review.
To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features. These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia of Char …
To guide clinical workup and management in SCARs, we provide an up-to-date overview of the most frequent SCARs and their phenotypic features …
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. ...The most frequently mutated genes were SPG7 (n = 1 …
Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs …
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 1, …
Identification of SKOR2 IgG as a novel biomarker of paraneoplastic neurologic syndrome.
Rezk M, Pittock SJ, Kapadia RK, Knight AM, Guo Y, Gupta P, LaFrance-Corey RG, Zekeridou A, McKeon A, Dasari S, Mills JR, Dubey D. Rezk M, et al. Front Immunol. 2023 Sep 18;14:1243946. doi: 10.3389/fimmu.2023.1243946. eCollection 2023. Front Immunol. 2023. PMID: 37795104 Free PMC article.
Both SKOR2 IgG-positive patients had central nervous system involvement, one presenting with encephalitis and seizures (Patient 1) and the other with cognitive dysfunction, spastic ataxia, dysarthria, dysphagia, and pseudobulbar affect (Patient 2). ...
Both SKOR2 IgG-positive patients had central nervous system involvement, one presenting with encephalitis and seizures (Patient 1) and the o …
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M, Yang H, Lin Z, Li X, Liu L, Huang S, Zhao H, Zhu X, Xiao Q, Duan R, Wang J, Zuchner S, Tang B, Zhang R. Wang M, et al. J Neurol. 2023 Oct;270(10):4959-4967. doi: 10.1007/s00415-023-11821-z. Epub 2023 Jun 26. J Neurol. 2023. PMID: 37365282
Dynamic mutation detection in NOTCH2NLC and RCF1 was applied as a supplement to WES. As a result, an overall molecular diagnosis rate of 89.7% was achieved. All 21 patients with predominant autonomic dysfunction and multiple organ system involvement carried pathogenic vari …
Dynamic mutation detection in NOTCH2NLC and RCF1 was applied as a supplement to WES. As a result, an overall molecular diagnosis rate of 89. …
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J. Finsterer J. Can J Neurol Sci. 2009 Jul;36(4):409-28. doi: 10.1017/s0317167100007733. Can J Neurol Sci. 2009. PMID: 19650351 Review.
The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO …
The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luys …
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.
Bogdanova-Mihaylova P, Hebert J, Moran S, Murphy M, Ward D, Walsh RA, Murphy SM. Bogdanova-Mihaylova P, et al. Cerebellum. 2021 Feb;20(1):54-61. doi: 10.1007/s12311-020-01180-0. Cerebellum. 2021. PMID: 32816195
The detection rate for repeat expansion disorder gene testing was 47.7% (82/172) and using NGS gene panel, a genetic diagnosis was obtained in 30/84 (35.7%). ...SPG7-associated ataxia was the second most common diagnosis (21/128, 16.4%), followed by ANO10-associated …
The detection rate for repeat expansion disorder gene testing was 47.7% (82/172) and using NGS gene panel, a genetic diagnosis was ob …
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Gagnon C, Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J. Gagnon C, et al. Arch Phys Med Rehabil. 2018 Sep;99(9):1747-1754. doi: 10.1016/j.apmr.2018.01.026. Epub 2018 Feb 17. Arch Phys Med Rehabil. 2018. PMID: 29462597
OBJECTIVE: To document in adults affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) the intra- and interrater reliability, standard error of measurement, agreement, minimal detectable change, and construct validity of the 9-Hole Peg Test …
OBJECTIVE: To document in adults affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) the intra- and …
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O. van de Warrenburg BP, et al. Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13. Eur J Neurol. 2014. PMID: 24418350
In the case of a dominant family history, first line genetic screening is recommended for spinocerebellar ataxia (SCA) 1, 2, 3, 6, 7 and 17 (level B), and in Asian patients also for dentatorubral-pallidoluysian atrophy (DRPLA). In the case of recessive disease, a stepwise …
In the case of a dominant family history, first line genetic screening is recommended for spinocerebellar ataxia (SCA) 1, 2, 3, 6, 7 …
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