Stratification of disease progression in a broad spectrum of degenerative cerebellar ataxias with a clustering method using MRI-based atrophy rates of brain structures [0.03%]
基于MRI的脑结构萎缩率聚类方法在退行性小脑共济失调疾病进展分层中的应用
Rie Sasaki,Futaba Maki,Daisuke Hara et al.
Rie Sasaki et al.
Background: The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, w...
JC virus granule cell neuronopathy onset two months after chemotherapy for low-grade lymphoma [0.03%]
低度恶性淋巴瘤化疗后两个月发生JC病毒颗粒细胞神经病
Kathryn B Holroyd,Elias S Sotirchos,Scott R DeBoer et al.
Kathryn B Holroyd et al.
Background: Granule cell neuronopathy (GCN) is a rare disease caused by the JC virus, leading to degeneration of cerebellar granule cell neurons. Primarily described in patients with AIDS, it has also been diagnosed in pa...
Case Reports
Cerebellum & ataxias. 2017 Jun 23:4:8. DOI:10.1186/s40673-017-0066-6 2017
Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease [0.03%]
脊髓小脑共济失调3型/Machado-Joseph病严重程度的神经相关性
Carlos R Hernandez-Castillo,Rosalinda Diaz,Aurelio Campos-Romo et al.
Carlos R Hernandez-Castillo et al.
Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant inherited neurodegenerative disorder. Several post-mortem and imaging studies have shown cerebellar and brainstem atroph...
Matteo Bologna,Alfredo Berardelli
Matteo Bologna
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas. In this article, we focus on ...
Ivan Kmezic,Jan Weinberg,Dan Hauzenberger et al.
Ivan Kmezic et al.
Background: Progressive multifocal leukoencephalopathy (PML) is a demyelinating disorder of the central nervous system caused by reactivation of the JC-virus and is in most cases associated with underlying immunosuppressi...
Case Reports
Cerebellum & ataxias. 2017 Apr 21:4:5. DOI:10.1186/s40673-017-0063-9 2017
Katrin Bürk
Katrin Bürk
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is sign...
Systematic review of autosomal recessive ataxias and proposal for a classification [0.03%]
常染色体隐性遗传共济失调的系统综述及分类建议
Marie Beaudin,Christopher J Klein,Guy A Rouleau et al.
Marie Beaudin et al.
Background: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literatu...
E De Witte,I Wilssens,D De Surgeloose et al.
E De Witte et al.
Background: Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed ...
Case Reports
Cerebellum & ataxias. 2017 Jan 6:4:2. DOI:10.1186/s40673-016-0059-x 2017
Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma [0.03%]
与轻链型多发性骨髓瘤相关的小脑共济失调和感觉神经节病
Panagiotis Zis,Dasappaiah Ganesh Rao,Bart E Wagner et al.
Panagiotis Zis et al.
Background: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each conditio...
Case Reports
Cerebellum & ataxias. 2017 Jan 5:4:1. DOI:10.1186/s40673-016-0060-4 2017
Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1 [0.03%]
脊髓小脑共济失调1型中CAG重复突变的扩张、镶嵌和平息机制
Cara Kraus-Perrotta,Sarita Lagalwar
Cara Kraus-Perrotta
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ...