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Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
No clinical trials have been registered for ataxia - telangiectasia variant.
4 publications have been identified in PubMed for ataxia - telangiectasia variant. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).
Jenni R (2026). [PMID: 41715124](https://pubmed.ncbi.nlm.nih.gov/41715124/). *J Transl Med*. [Basic Science / Preclinical]
Milanovic B (2025). [PMID: 40564629](https://pubmed.ncbi.nlm.nih.gov/40564629/). *Children (Basel)*. [Case Report / Case Series]
Ammous-Boukhris N (2024). [PMID: 38882696](https://pubmed.ncbi.nlm.nih.gov/38882696/). *Front Neurol*. [Case Report / Case Series]
Elitzur S (2024). [PMID: 38917355](https://pubmed.ncbi.nlm.nih.gov/38917355/). *Blood*. [Epidemiology / Natural History]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:26 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning ataxia - telangiectasia variant
Updated Aug 24, 2026
A longitudinal study published in PubMed examines neurological disease progression in adults with ataxia telangiectasia. The findings contribute to understanding the disease's impact on adult patients over time.
A phase 3 trial investigates the neurological effects of encapsulated dexamethasone sodium phosphate in children aged 6-9 with ataxia telangiectasia. This multicenter, randomized, double-blind study aims to provide insights into treatment efficacy for this rare condition.
The Ataxia Global Initiative's MRI Biomarkers Working Group has published recommendations for MRI end-points in clinical trials for ataxias. These guidelines aim to standardize the use of MRI as a biomarker in research, potentially enhancing the development of therapies for these conditions.
Rare Disease Day 2026 highlights the ongoing struggles of families facing undiagnosed conditions, including hydrocephalus and Dandy-Walker syndrome. The event emphasizes the need for awareness and support for those dealing with complex health challenges.