Authorship：Lead author   Language：English   Publishing type：Research paper (scientific journal)  

The clinical severity of cerebellar ataxia is still assessed primarily using ordinal rating scales, and continuous quantitative measures are still limited. In this context, we have developed iPatax, an iPad®-based application, as a quantitative and objective tool for assessment of cerebellar motor dysfunction. Finger movements were recorded in 27 controls and 28 patients with cerebellar ataxia during three target-following tasks: non-continuous linear, non-continuous circular, and continuous circular movements. In the controls, the coefficient of variation of velocity (CVV) during non-continuous linear movements and the average distance from the target trajectory (AD) during non-continuous circular movement both improved over repeated trials, consistent with learning-related changes, and were prioritized as candidate metrics. Both metrics differentiated patients with cerebellar ataxia from controls (AUCs = 0.853 and 0.918, respectively). In the patients, CVV during non-continuous linear movement correlated significantly with both the total Scale for the Assessment and Rating of Ataxia (SARA) score and the upper-limb subscore (total SARA: rS = 0.50; upper-limb subscore: rS = 0.51), whereas AD during non-continuous circular movements correlated with the total SARA score but not with the upper-limb subscore (total SARA: rS = 0.44; upper-limb subscore: rS = 0.063). These findings suggest that, as a widely available tablet device, iPatax can capture and quantify clinically relevant temporal and trajectory-related aspects of cerebellar motor dysfunction. This approach may supplement current ordinal rating scales in clinical and research settings.

DOI： 10.1007/s12311-026-02028-9

PubMed

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DOI： 10.1101/2025.11.12.687969

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Authorship：Lead author   Publishing type：Research paper (scientific journal)   Publisher：Wiley  

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive neurodegenerative diseases characterised by nuclear TDP‐43 loss. Its hallmark, cryptic exon (CE) splicing, is often masked in bulk tissue analyses by the low abundance of affected neurons. We developed an ultrasensitive RT‐qPCR assay targeting STMN2 CE using one exon–CE junction‐spanning primer and the other within the CE. The design expands the dynamic range sevenfold: TDP‐43 knockdown boosted STMN2 CE levels 1395‐fold in differentiated SH‐SY5Y neurons. Spike‐in tests set detection at 0.16% deficient cells. Crucially, the assay revealed a 42‐fold CE increase in ALS motor cortex, previously missed by conventional primers. This streamlined tool enables precise quantification of TDP‐43 dysfunction and sensitive pharmacodynamic monitoring for future ALS‐FTD therapeutic studies.

Impact statement

Because cryptic‐exon signals are diluted in bulk tissue, we developed a junction‐spanning STMN2 RT‐qPCR with sub‐percent sensitivity. This deployable biomarker will aid ALS/FTD researchers and drug developers by standardizing measurements and enabling sensitive pharmacodynamic monitoring of therapies targeting nuclear TDP‐43 dysfunction.

DOI： 10.1002/1873-3468.70198

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Publishing type：Part of collection (book)   Publisher：Springer Nature Singapore  

DOI： 10.1007/978-981-99-4886-4_13

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Authorship：Lead author   Language：Japanese   Publisher：(一社)日本神経学会  

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Other Link： https://search.jamas.or.jp/default/link?pub_year=2020&ichushi_jid=J01550&link_issn=&doc_id=20200615340005&doc_link_id=1390848250133745152&url=https%3A%2F%2Fcir.nii.ac.jp%2Fcrid%2F1390848250133745152&type=CiNii&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00003_3.gif

Language：Japanese   Publisher：日本神経眼科学会  

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Language：Japanese   Publisher：(株)羊土社  

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Language：Japanese   Publisher：(株)中外医学社  

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Language：Japanese   Publisher：日本神経免疫学会  

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Language：Japanese   Publisher：日本神経免疫学会  

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Event date： 2023.9

Language：Japanese  

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Event date： 2022.10

Language：English  

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Event date： 2021.9

Language：Japanese  

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Event date： 2020.11

Language：Japanese  

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Event date： 2017.11

Language：Japanese  

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