魁北克沙勒沃伊-萨格奈痉挛性共济失调的假显性遗传。 - Suppr

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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.

作者信息

Terracciano A, Foulds N C, Ditchfield A, Bunyan D J, Crolla J A, Huang S, Santorelli F M, Hammans S R

机构信息

Molecular Medicine & Neurosciences, IRCCS Bambino Gesù Hospital, Rome, Italy.

出版信息

Neurology. 2010 Apr 6;74(14):1152-4. doi: 10.1212/WNL.0b013e3181d7d8a0.

DOI:10.1212/WNL.0b013e3181d7d8a0

PMID:20368637

Abstract

摘要

相似文献

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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.

作者信息

Terracciano A, Foulds N C, Ditchfield A, Bunyan D J, Crolla J A, Huang S, Santorelli F M, Hammans S R

机构信息

Molecular Medicine & Neurosciences, IRCCS Bambino Gesù Hospital, Rome, Italy.

出版信息

Neurology. 2010 Apr 6;74(14):1152-4. doi: 10.1212/WNL.0b013e3181d7d8a0.

DOI:10.1212/WNL.0b013e3181d7d8a0

PMID:20368637

Abstract

摘要

相似文献

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.

Neurology. 2010 Apr 6;74(14):1152-4. doi: 10.1212/WNL.0b013e3181d7d8a0.

Novel compound heterozygous mutations in sacsin-related ataxia.

J Neurol Sci. 2005 Dec 15;239(1):101-4. doi: 10.1016/j.jns.2005.08.005. Epub 2005 Sep 29.

A phenotype without spasticity in sacsin-related ataxia.

Neurology. 2005 Jun 28;64(12):2129-31. doi: 10.1212/01.WNL.0000166031.91514.B3.

A novel SACS gene mutation in a Tunisian family.

J Mol Neurosci. 2009 Nov;39(3):333-6. doi: 10.1007/s12031-009-9212-9. Epub 2009 Jun 16.

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

Muscle Nerve. 2008 Jan;37(1):107-10. doi: 10.1002/mus.20878.

Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.

Neurology. 2006 Nov 28;67(10):1769-73. doi: 10.1212/01.wnl.0000244484.60489.50.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

J Neurol. 2008 Jun;255(6):803-6. doi: 10.1007/s00415-008-0672-6. Epub 2008 May 19.

A Japanese family with early-onset ataxia with motor and sensory neuropathy.

J Neurol Sci. 2007 Mar 15;254(1-2):44-8. doi: 10.1016/j.jns.2006.12.014. Epub 2007 Jan 29.

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.

Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535.

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Adv Neurol. 1993;61:97-103.

引用本文的文献

Coexistence of multiple sclerosis and spinocerebellar ataxia type-8.

Mult Scler. 2023 Aug;29(9):1195-1198. doi: 10.1177/13524585231180549. Epub 2023 Jul 3.

Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation.

Mov Disord Clin Pract. 2023 Feb 25;10(4):670-676. doi: 10.1002/mdc3.13694. eCollection 2023 Apr.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Orphanet J Rare Dis. 2022 Oct 1;17(1):369. doi: 10.1186/s13023-022-02497-1.

Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.

Clin Neuroradiol. 2019 Jun;29(2):215-221. doi: 10.1007/s00062-018-0665-5. Epub 2018 Jan 29.

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.