Journal ArticleDOI
Repeat sizes of NOP56 gene in a Japanese Asidan (SCA36) family with clinical anticipation.
Yasuyuki Ohta,Ken Ikegami,Kota Sato,Nozomi Hishikawa,Yoshio Omote,Mami Takemoto,Toru Yamashita,Koji Abe +7 more
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This article is published in Journal of the Neurological Sciences.The article was published on 2020-09-21. It has received 0 citations till now. The article focuses on the topics: Anticipation (genetics).read more
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Journal ArticleDOI
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
Safa Al-Sarraj,Andrew T. King,Claire Troakes,Bradley N. Smith,Satomi Maekawa,Istvan Bodi,Boris Rogelj,Ammar Al-Chalabi,Tibor Hortobágyi,Christopher Shaw +9 more
TL;DR: In this paper, a subset of TDP-43 proteinopathy patients who have unusual and abundant p62 positive, TDP43 negative inclusions in the cerebellum and hippocampus were found to carry hexanucleotide repeat expansion in C9orf72.
Journal ArticleDOI
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
Hatasu Kobayashi,Koji Abe,Tohru Matsuura,Yoshio Ikeda,Toshiaki Hitomi,Yuji Akechi,Toshiyuki Habu,Wanyang Liu,Hiroko Okuda,Akio Koizumi +9 more
TL;DR: Genetic analysis of a unique form of SCA (SCA36) that is accompanied by motor neuron involvement suggests that SCA36 is caused by hexanucleotide repeat expansions through RNA gain of function.
Journal ArticleDOI
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
Ilse Gijselinck,S. Van Mossevelde,J. van der Zee,Anne Sieben,Anne Sieben,Sebastiaan Engelborghs,J. De Bleecker,Adrian Ivanoiu,Olivier Deryck,Dieter Edbauer,Dieter Edbauer,Ming Zhang,Bavo Heeman,Veerle Bäumer,M Van den Broeck,Maria Mattheijssens,K. Peeters,Ekaterina Rogaeva,P. De Jonghe,Patrick Cras,Jean-Jacques Martin,P.P. De Deyn,Marc Cruts,C. Van Broeckhoven +23 more
TL;DR: It is shown that increased methylation of CpGs in the C9orf72 promoter may explain how an increasing G4C2 size lead to loss-of-function without excluding repeat length-dependent toxic gain- of-function.
Journal ArticleDOI
Relationship between C9orf72 repeat size and clinical phenotype.
TL;DR: Conclusive evidence is lacking, partly due to the difficulties in accurately defining the exact repeat size and the presence of repeat variability due to somatic mosaicism, in relation to C9orf72 repeat size as modifier for phenotypic characteristics.
Journal ArticleDOI
Clinical features of SCA36 A novel spinocerebellar ataxia with motor neuron involvement (Asidan)
Yoshio Ikeda,Yasuyuki Ohta,Hatasu Kobayashi,Miyuki Okamoto,Kazuhiro Takamatsu,Taisei Ota,Yasuhiro Manabe,Koichi Okamoto,Akio Koizumi,Koji Abe +9 more
TL;DR: This is the first description of the unique clinical features of SCA36, a relatively pure cerebellar ataxia with progressive motor neuron involvement, a disease that stands at the crossroads ofSCA and motor neuron disease.