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Homozygous mutations causing a spastic-ataxia phenotype in 2 families.

作者信息

Kocoglu Cemile, Gundogdu Asli, Kocaman Gulsen, Kahraman-Koytak Pinar, Uluc Kayihan, Kiziltan Gunes, Caglayan Ahmet Okay, Bilguvar Kaya, Vural Atay, Basak A Nazli

机构信息

Suna and Inan Kirac Foundation (C.K., A.G., A.N.B.), Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Bogazici University, Istanbul, Turkey; Department of Neurology (G. Kocaman), Medical Faculty, Bezmialem Vakif University, Turkey; Department of Neurology (P.K.-K., K.U.), Faculty of Medicine, Marmara University, Istanbul, Turkey; Department of Neurology (G. Kiziltan), Cerrahpasa Faculty of Medicine, Istanbul University, Turkey; Department of Medical Genetics (A.O.C.), School of Medicine, Istanbul Bilim University, Turkey; Yale Program on Neurogenetics (A.O.C.), Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, CT; Department of Genetics (K.B.), Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT; and Department of Neurology (A.V.), Koc University Hospital, Istanbul, Turkey.

出版信息

Neurol Genet. 2018 Jan 18;4(1):e218. doi: 10.1212/NXG.0000000000000218. eCollection 2018 Feb.

DOI:10.1212/NXG.0000000000000218
PMID:29379883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5773845/
Abstract
摘要

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本文引用的文献

1
Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.扩大与钙蛋白酶1相关突变的临床表型：一例先天性起病的单纯性痉挛性截瘫新病例。
J Neurol Sci. 2017 Jul 15;378:210-212. doi: 10.1016/j.jns.2017.05.014. Epub 2017 May 10.
2
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.钙蛋白酶1突变与痉挛和共济失调综合征相关。
J Neurol. 2017 May;264(5):1008-1010. doi: 10.1007/s00415-017-8464-5. Epub 2017 Mar 20.
3
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.跨越共济失调与痉挛性截瘫之间的鸿沟：共享的表型、基因和通路。
Mov Disord. 2017 Mar;32(3):332-345. doi: 10.1002/mds.26944. Epub 2017 Feb 14.
4
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.钙蛋白酶1基因缺陷导致小鼠和人类小脑发育异常及小脑共济失调。
Cell Rep. 2016 Jun 28;16(1):79-91. doi: 10.1016/j.celrep.2016.05.044. Epub 2016 Jun 16.
5
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.钙蛋白酶1基因突变导致常染色体隐性遗传性痉挛性截瘫。
Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002.
6
Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.CAPN1 中的错义突变与帕森罗素梗犬种的脊髓小脑共济失调有关。
PLoS One. 2013 May 31;8(5):e64627. doi: 10.1371/journal.pone.0064627. Print 2013.
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How calpain is activated by calcium.
Nat Struct Biol. 2002 Apr;9(4):239-41. doi: 10.1038/nsb0402-239.