scholarly journals Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency

2016 ◽  
Vol 94 ◽  
pp. 157-168 ◽  
Author(s):  
Stephanie De Munter ◽  
Simon Verheijden ◽  
Esther Vanderstuyft ◽  
Ana Rita Malheiro ◽  
Pedro Brites ◽  
...  
Keyword(s):  
Purkinje Cell ◽  
Cerebellar Ataxia ◽  
Early Onset ◽  
Multifunctional Protein ◽  
Cell Dysfunction

scholarly journals Early Onset of Ataxia in Moonwalker Mice Is Accompanied by Complete Ablation of Type II Unipolar Brush Cells and Purkinje Cell Dysfunction

2013 ◽  
Vol 33 (50) ◽  
pp. 19689-19694 ◽  
Author(s):  
G. Sekerkova ◽  
J.-A. Kim ◽  
M. J. Nigro ◽  
E. B. E. Becker ◽  
J. Hartmann ◽  
...  
Keyword(s):  
Purkinje Cell ◽  
Early Onset ◽  
Type Ii ◽  
Brush Cells ◽  
Cell Dysfunction ◽  
Complete Ablation ◽  
Unipolar Brush Cells

scholarly journals Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency

2004 ◽  
Vol 101 (25) ◽  
pp. 9474-9478 ◽  
Author(s):  
M. Sausbier ◽  
H. Hu ◽  
C. Arntz ◽  
S. Feil ◽  
S. Kamm ◽  
...  
Keyword(s):  
Purkinje Cell ◽  
Cerebellar Ataxia ◽  
K Channel ◽  
Cell Dysfunction

scholarly journals Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

1990 ◽  
Vol 53 (8) ◽  
pp. 667-670 ◽  
Author(s):  
A Filla ◽  
G De Michele ◽  
F Cavalcanti ◽  
A Perretti ◽  
L Santoro ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Early Onset ◽  
Tendon Reflexes

scholarly journals Autoantibody to the Rab6A/Rab6B in Autoimmune Cerebellar Ataxia Associated with Sjogren’s Syndrome

2020 ◽  
Author(s):  
Liyuan Guo ◽  
Haitao Ren ◽  
Siyuan Fan ◽  
Hongzhi Guan ◽  
Jing Wang
Keyword(s):  
Purkinje Cell ◽  
Cerebellar Ataxia ◽  
Sjögren’S Syndrome ◽  
Sjögren's Syndrome ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Hek293 Cells ◽  
Rat Cerebellum ◽  
Autoimmune Cerebellar Ataxia ◽  
Sjögren‘S Syndrome

Abstract Background To report a novel autoantibody against Purkinje cell in a patient with autoimmune cerebellar ataxia (ACA) associated to Sjogren’s syndrome (SS).Methods The Patients on one centre with cerebellar ataxia of unknown cause, who were tested positive with tissue-based indirect immunofluorescence assay (TBA) on rat cerebellum sections and negative for comprehensive anti-neural autoantibodies panel, were investigated for novel autoantibody identification. Among them, one patient with comorbid ACA and SS was qualified for further exploration. His-immunoprecipitation (HIP) combined with mass spectrometric (MS) analysis was used to identify the target antigen, which was confirmed by recombinant cell based assay (CBA) and antibody neutralization experiments. Results TBA of the patient’s serum and cerebrospinal fluid (CSF) for autoantibody testing revealed binding of IgG antibody, mainly IgG1, to Purkinje cell and granular layer of rat cerebellum. Rab6A was identified as the autoantigen by MS and Western blot, subsequently verified by CBA with HEK293 cells expressing human Rab6A/Rab6B. Furthermore, recombinant human Rab6A/Rab6B protein to neutralize the autoantibodies’ tissue reaction was performed by a parallel confirmed approach.Conclusion Autoantibody against Rab6A/Rab6B may be a novel biomarker in diagnosis of ACA, especially in patients with comorbid ACA and SS. The role of the antibody in mechanism of ACA warrants further study.

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia

2019 ◽  
Vol 96 (6) ◽  
pp. 566-574
Author(s):  
Sunil Shakya ◽  
Renu Kumari ◽  
Varun Suroliya ◽  
Nishu Tyagi ◽  
Aditi Joshi ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Gene Sequencing ◽  
Whole Exome ◽  
Targeted Gene Sequencing

scholarly journals A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

PLoS Genetics ◽  
2012 ◽  
Vol 8 (6) ◽  
pp. e1002759 ◽  
Author(s):  
Kaisa Kyöstilä ◽  
Sigitas Cizinauskas ◽  
Eija H. Seppälä ◽  
Esko Suhonen ◽  
Janis Jeserevics ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Protein Degradation ◽  
Cerebellar Ataxia ◽  
Early Onset
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