Chapter 26. Spinocerebellar ataxia type 2sheepmyotonia congenitageneticsHereditary autosomal dominant ataxias is a clinically and genetically heterogeneous group of diseases characterized by a progressive ataxia combined with the signs of multisystem involvement of the brain and spinal cord. The modem ...
Pulst SM, Nechiporuk A, Starkman S (1993) Anticipation in spinocerebellar ataxia type 2. Nat Genet 5: 8-10.Pulst S-M, Nechiporuk A, Starkman S. Anticipation in spinocerebel- lar ataxia type 2. Nat Genet 1993;5:8-10.Pulst S-M, Nechiporuk A, Starkman S. Anticipation in spino-...
This chapter provides an overview on phenotype, gene function, and diagnosis of Spinocerebellar ataxia 2 (SCA2), which .is a neurodegenerative disease caused by expansion of an unstable CAG repeat in the SCA2 or ataxin-2 gene on human chromosome 12. SCA2 typically shows a phenotype of progres...
Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple labeling immunofluorescent study. Neurosci Lett 1999;273:117-20.Koyano S, Uchihara T, Fujigasaki H, Nakamura A, Yagishita S, Iwabuchi K (1999) Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling...
Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations. The mutation causing SCA2 disease is an abnormal expansion of ...
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease, which belongs to the trinucleotide repeat disease grou
Spinocerebellarataxiatype2(SCA2)isaneurode- generativedisordercausedbyapolyglutamine expansionwithintheAtaxin-2(Atxn2)protein.Pur- kinjecells(PC)ofthecerebellumfireirregularlyand eventuallydieinSCA2.Weshowherethatthetype 2smallconductancecalcium-activatedpotassium channel(SK2)playakeyroleincontrolofnormal PCacti...
4) spinocerebellar ataxia type 1 脊髓小脑共济失调1型 1. Clinical analysis on the cases with intermediate Cytosine-Adenine-Guanine repeat alleles of spinocerebellar ataxia type 1; 脊髓小脑共济失调1型中等重复动态突变患者临床表型分析5) spinocerebellar ataxia type2 脊髓小脑共济失调2型 1. Clinical ...
4) Spinocercbellar ataxia type 3 脊髓小脑共济失调3型 1. Objective: To detect the clinical features of patients ofSpinocercbellar ataxia type 3(SCA3/MJD),we knowed its clinical characteristics detailedly. 目的:通过对新疆脊髓小脑共济失调3型(SCA3/MJD)家系患者的临床表现的调查,了解其临床特点,并对家...
5) Spinocerebellar ataxia 脊髓小脑性共济失调 1. Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias; 脊髓小脑性共济失调的分子遗传学诊断与临床应用 2. Molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 6; 脊髓小脑性共济失调6...