Ataxia-telangiectasia

1. Disease Information

1.1 Concise overview

Ataxia‑telangiectasia (A‑T) is a rare, autosomal recessive, multisystem disorder caused by biallelic pathogenic variants (PVs) in ATM, characterized by progressive cerebellar neurodegeneration (ataxia), oculocutaneous telangiectasia, immunodeficiency with recurrent infections, marked radiosensitivity, and elevated cancer risk. (pereira2024ataxiatelangiectasiainlatin pages 1-6, nakano2024updateonrecommendations pages 1-2, collyer2024ataxiatelangiectasia pages 3-5)

1.2 Key identifiers and controlled vocabulary

• OMIM: 208900 (pereira2024ataxiatelangiectasiainlatin pages 1-6, tiet2024exploringneurodegenerationin pages 9-16)
• MeSH: Ataxia Telangiectasia (ClinicalTrials.gov condition browse) (NCT06193200 chunk 2)
• ICD‑10 / ICD‑11: Not identified in retrieved sources (gap)
• Orphanet (ORPHA): Not identified in retrieved sources (gap)
• MONDO: Not identified in retrieved sources (gap)

1.3 Synonyms / alternative names

• Louis‑Bar syndrome (NCT06193200 chunk 1)
• Cerebello‑oculocutaneous telangiectasia (NCT06193200 chunk 1)

1.4 Evidence source type

The report integrates: - Aggregated disease-level resources / consensus guidance (AACR Childhood Cancer Predisposition Workshop update in Clinical Cancer Research, 2024) (nakano2024updateonrecommendations pages 1-2) - Large multi-center human cohort evidence (Latin America, n=218) (pereira2024ataxiatelangiectasiainlatin pages 1-6) - Mechanistic primary research (Cell Reports 2024 microglia study) (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3) - ClinicalTrials.gov interventional trial records for real‑world implementation of investigational therapies (NCT06193200 chunk 1, NCT04870866 chunk 1, NCT06673056 chunk 1, NCT07215416 chunk 1)

Summary identifiers & diagnostic anchors

Table: This table compiles core identifiers, synonyms, inheritance, ATM gene information, and the main laboratory diagnostics used for ataxia-telangiectasia. It is useful as a concise reference for disease knowledge base curation and diagnostic annotation.

2. Etiology

2.1 Disease causal factors

Genetic: A‑T is caused by biallelic PVs in ATM, which encodes a serine/threonine kinase central to the DNA damage response, particularly double‑strand break (DSB) signaling/repair and cell‑cycle checkpoints. (pereira2024ataxiatelangiectasiainlatin pages 1-6, lai2024atmdeficiencyinducedmicroglialactivation pages 1-3, nakano2024updateonrecommendations pages 1-2)

Molecular role: Upon DNA damage, ATM activation phosphorylates regulators of cell‑cycle arrest, DNA repair, and apoptosis (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3). ATM also has cytoplasmic/redox and organelle functions (mitochondrial redox sensing, lysosomal trafficking, autophagy modulation), which are increasingly implicated in neurodegeneration and systemic complications. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3, amirifar2019ataxia‐telangiectasiaareview pages 6-9)

2.2 Risk factors

Genetic risk factors (causal variants): - ATM (11q22.3); biallelic PVs cause classic A‑T. (pereira2024ataxiatelangiectasiainlatin pages 1-6)

Environmental/iatrogenic risk factors (gene–environment interaction): - Ionizing radiation (clinical radiosensitivity) is a major risk due to the underlying DNA repair defect; exposure can cause toxicity and is generally avoided. (collyer2024ataxiatelangiectasia pages 3-5) - Radiomimetic chemotherapy (example noted: bleomycin) is also discouraged/avoided in A‑T due to hypersensitivity. (collyer2024ataxiatelangiectasia pages 3-5)

2.3 Protective factors

Not identified in the retrieved evidence (gap).

2.4 Gene–environment interactions

A‑T is a canonical gene–environment interaction disorder where ATM deficiency → impaired response to radiation‑induced DNA damage, motivating diagnostic radiation‑induced chromosomal breakage testing and clinical avoidance of ionizing radiation exposures when feasible. (pereira2024ataxiatelangiectasiainlatin pages 1-6, nakano2024updateonrecommendations pages 1-2, collyer2024ataxiatelangiectasia pages 3-5)

3. Phenotypes (with HPO suggestions)

3.1 Neurologic phenotypes (symptoms/signs)

Progressive cerebellar ataxia (childhood onset; progressive; major cause of disability) - Quantitative natural history proxy: classic patients often develop symptoms ~2 years and may need ambulatory assistance between ~8–12 years (reviewed trial landscape). (kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3) - Review notes many patients lose ambulation by adolescence. (collyer2024ataxiatelangiectasia pages 5-7) - HPO: HP:0001251 (Ataxia); HP:0001272 (Cerebellar atrophy)

Oculomotor abnormalities / oculomotor apraxia - HPO: HP:0000641 (Oculomotor apraxia); HP:0000612 (Oculogyration / abnormal eye movements; placeholder—use most specific term per phenotype)

Movement disorders (e.g., dystonia/chorea in some presentations) - HPO: HP:0001332 (Dystonia); HP:0002072 (Chorea)

3.2 Vascular/skin phenotype

Telangiectasia (oculocutaneous) - HPO: HP:0001083 (Telangiectasia)

3.3 Immunologic and infectious phenotypes (with frequencies)

In a 2024 multicenter Latin American cohort (n=218): - Recurrent airway infections: 66.9% (pereira2024ataxiatelangiectasiainlatin pages 1-6) - IgA deficiency: 60.8% (pereira2024ataxiatelangiectasiainlatin pages 1-6) - IgG deficiency: 28.6% (pereira2024ataxiatelangiectasiainlatin pages 1-6) - HPO: HP:0002721 (Immunodeficiency); HP:0002719 (Recurrent infections); HP:0002720 (IgA deficiency)

3.4 Pulmonary disease

Pulmonary disease is common and reported to affect ~70% in a recent pediatric neurology review; pulmonary function testing is recommended beginning around 5–6 years. (collyer2024ataxiatelangiectasia pages 3-5) - HPO: HP:0006536 (Recurrent respiratory infections); HP:0002204 (Pulmonary fibrosis—if present); HP:0002099 (Asthma—if present)

3.5 Hepatic / metabolic phenotypes (recent data)

Hepatic fibrosis / chronic liver disease - Cross‑sectional study (2023; n=25, ages 5–31) found significant hepatic fibrosis in 5/25 (20%) by non‑invasive biomarkers and elastography. (barreto2023hepaticfibrosisa pages 1-2) - HPO: HP:0001394 (Hepatic fibrosis); HP:0001397 (Hepatomegaly—if present)

3.6 Cancer predisposition

A pediatric neurology review reported malignancy risk estimates with a minimum ~10% and ceiling 25–38%, with hematologic neoplasms predominating in younger individuals; reported hematologic categories include T‑ALL and T‑PLL. (collyer2024ataxiatelangiectasia pages 3-5) - HPO: HP:0003002 (Neoplasm)

3.7 Quality‑of‑life impact

A‑T is progressive and disabling; clinical trials and biomarker reviews emphasize the need for validated outcome measures and biomarkers due to functional decline and multisystem disease burden. (kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3)

4. Genetic / Molecular Information

4.1 Causal gene

• ATM (ataxia‑telangiectasia mutated), locus 11q22.3. (pereira2024ataxiatelangiectasiainlatin pages 1-6)

4.2 Pathogenic variant classes and functional consequences

The retrieved evidence supports that disease is due to biallelic ATM PVs leading to defective ATM kinase function and impaired DSB response, plus broader redox/mitochondrial/lysosomal effects. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3, nakano2024updateonrecommendations pages 1-2)

Variant‑level details (e.g., recurrent founder variants, allele frequencies in gnomAD, ACMG classifications from ClinVar) were not extracted from the retrieved corpus and remain a gap for this report.

4.3 Modifier genes

Not identified in the retrieved evidence (gap).

4.4 Epigenetic information

Not identified in the retrieved evidence (gap).

4.5 Chromosomal abnormalities

Consensus guidance lists “abnormal karyotype involving chromosomes 7 and 14” among laboratory abnormalities used in diagnostic workup for A‑T. (nakano2024updateonrecommendations pages 1-2)

5. Environmental Information

5.1 Environmental factors

The dominant environmental sensitivity is ionizing radiation exposure, due to impaired DSB repair; clinical reviews explicitly recommend avoiding ionizing radiation when possible. (collyer2024ataxiatelangiectasia pages 3-5)

5.2 Lifestyle factors

Not identified in retrieved evidence (gap).

5.3 Infectious agents

No single pathogen is causal; however, recurrent respiratory infections are common and linked to immunodeficiency. (pereira2024ataxiatelangiectasiainlatin pages 1-6)

6. Mechanism / Pathophysiology

6.1 Core pathway concepts (current understanding)

• DNA double‑strand break response / cell‑cycle checkpoint: ATM is a kinase activated by DNA damage and phosphorylates key regulators of DNA repair, cell‑cycle arrest, and apoptosis. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3)
• Oxidative stress and organelle dysfunction: Reviews emphasize ATM’s roles beyond nuclear DSB repair, including oxidative stress response and metabolic signaling; oxidative stress is proposed as a contributor to multisystem pathology. (amirifar2019ataxia‐telangiectasiaareview pages 6-9, barreto2023hepaticfibrosisa pages 1-2)

Suggested pathway/ontology mappings (illustrative): - GO: DNA damage response, signal transduction by p53 class mediator; double‑strand break repair; cell cycle checkpoint signaling; regulation of intrinsic apoptotic signaling pathway.

6.2 Neurodegeneration and neuroinflammation (recent development: 2024)

A 2024 Cell Reports study provides mechanistic evidence that ATM deficiency drives microglial activation that promotes neurodegeneration. Key findings include: - Enriched ATM expression in microglia and snRNA‑seq evidence of microglial inflammation in A‑T cerebellum. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3) - Temporal ordering: pseudotime analyses suggesting microglial activation precedes neuronal apoptosis‑related gene upregulation. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3) - Cell-intrinsic immune activation: iPSC‑derived A‑T microglia show activation of innate immune pathways; co‑culture with neurons increases cytotoxicity (LDH release; p<0.001). (lai2024atmdeficiencyinducedmicroglialactivation pages 10-11) - Upstream pathway: cell‑intrinsic activation includes cGAS–STING, NF‑κB, and type I interferon programs. (lai2024atmdeficiencyinducedmicroglialactivation pages 10-11)

Suggested cell type ontology mappings: - CL: microglial cell; Purkinje cell; cerebellar granule cell.

6.3 Liver/metabolic pathophysiology

A 2023 Orphanet Journal of Rare Diseases cohort emphasizes that liver disease is an emerging later complication with histopathologic correlates (NASH, cirrhosis, HCC reported in the literature) and identified 20% significant hepatic fibrosis by non‑invasive tests, associated with metabolic alterations and greater ataxia severity. (barreto2023hepaticfibrosisa pages 1-2)

7. Anatomical Structures Affected (with UBERON/GO-CC suggestions)

7.1 Organ systems

• Central nervous system: cerebellum (neurodegeneration) (pereira2024ataxiatelangiectasiainlatin pages 1-6, lai2024atmdeficiencyinducedmicroglialactivation pages 1-3)
• UBERON: cerebellum
• Immune system: combined immunodeficiency features (lymphopenia, hypogammaglobulinemia/IgA deficiency) (pereira2024ataxiatelangiectasiainlatin pages 1-6, nakano2024updateonrecommendations pages 1-2)
• UBERON: thymus; bone marrow; lymph node
• Respiratory system: chronic sinopulmonary disease (~70% reported) (collyer2024ataxiatelangiectasia pages 3-5)
• UBERON: lung
• Liver/metabolic: hepatic fibrosis in a subset (barreto2023hepaticfibrosisa pages 1-2)
• UBERON: liver

7.2 Subcellular localization (suggested)

• GO cellular component: nucleus (DNA repair foci), mitochondrion (redox/mitochondrial dysfunction), lysosome (perinuclear lysosome accumulation), consistent with ATM’s described roles. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3)

8. Temporal Development (onset and progression)

8.1 Onset

In the 2024 Latin American cohort (n=218), median/mean timing was: - Symptom onset: mean 1.6 ± 1.1 years - Diagnosis: mean 5.7 ± 3.5 years (pereira2024ataxiatelangiectasiainlatin pages 1-6)

8.2 Progression

A‑T is progressive with functional decline; neurological manifestations worsen over time, and multi‑system complications (pulmonary, malignancy, metabolic/liver) accumulate, contributing to premature mortality. (collyer2024ataxiatelangiectasia pages 3-5, pereira2024ataxiatelangiectasiainlatin pages 1-6)

9. Inheritance and Population

9.1 Inheritance

• Autosomal recessive, caused by biallelic ATM PVs. (nakano2024updateonrecommendations pages 1-2)

9.2 Epidemiology

• Estimated prevalence range in a 2023 clinical-trial landscape review: 1/40,000–1/100,000 live births (kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3)
• A 2024 dissertation summarizes a lower prevalence estimate (~1:400,000) and an estimate of ~200 UK cases (lower-authority source; thesis) (tiet2024exploringneurodegenerationin pages 9-16)

9.3 Population genetics

Carrier frequency and founder effects were not identified in the retrieved evidence (gap).

10. Diagnostics

10.1 Core diagnostic tests (consensus guidance; 2024)

The 2024 AACR workshop update lists A‑T diagnostic testing/lab abnormalities including: - Genetic testing (sequencing including deletion/duplication assessment) - Chromosome breakage analysis - Immunoblotting - Elevated alpha‑fetoprotein (AFP) - Abnormal karyotype involving chromosomes 7 and 14 - Immunodeficiency (lymphopenia, low immunoglobulin levels, reduced TREC in newborn screening) (nakano2024updateonrecommendations pages 1-2)

10.2 Practical diagnostic criteria used in a large cohort

In the Latin American cohort, diagnostic biomarkers/criteria included: progressive cerebellar ataxia plus AFP >2 SD for age, low IgA (≥2 SD below), and radiation-induced chromosomal breakage; definitive diagnosis required biallelic disabling ATM variants plus chromosome breakage or progressive ataxia. (pereira2024ataxiatelangiectasiainlatin pages 1-6)

10.3 Differential diagnosis

AT‑like disorders affecting DNA damage response/repair can mimic A‑T and should be considered (e.g., A‑T‑like disorder due to MRE11; other DDR disorders). (collyer2024ataxiatelangiectasia pages 3-5)

11. Outcome / Prognosis

11.1 Survival and mortality (recent cohort data)

In the 2024 Latin American cohort (n=218): - Mean survival: 24.2 years - Kaplan–Meier 20‑year survival: 52.6% - Higher mortality association: low IgG (HR 2.1, 95% CI 1.11–3.93); sex association reported (HR 0.52 for males in one analysis). (pereira2024ataxiatelangiectasiainlatin pages 1-6)

11.2 Major causes of death

Cancer was reported as the leading cause of death, with infections also contributing substantially. (pereira2024ataxiatelangiectasiainlatin pages 13-16)

12. Treatment

12.1 Current standard-of-care (supportive, real-world implementations)

A‑T currently lacks curative therapy; care is primarily supportive and multidisciplinary. (pereira2024ataxiatelangiectasiainlatin pages 1-6, kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3)

Implemented supportive strategies with cohort utilization data: - Antibiotic prophylaxis: 57.7% of patients (Latin American cohort) (pereira2024ataxiatelangiectasiainlatin pages 1-6) - Immunoglobulin replacement therapy (IgRT): 49.1% (pereira2024ataxiatelangiectasiainlatin pages 1-6) - Pulmonary monitoring: PFTs recommended starting ~5–6 years (collyer2024ataxiatelangiectasia pages 3-5)

MAXO suggestions (illustrative): - Immunoglobulin replacement therapy; antibiotic prophylaxis; pulmonary function testing; physical therapy/occupational therapy/speech therapy.

12.2 Investigational / emerging therapies and clinical trials

Erythrocyte-encapsulated dexamethasone (EryDex)

• NEAT trial: Phase 3, randomized placebo-controlled; monthly infusions (every 28 days) (NCT06193200; first posted 2024‑01‑05; start 2024‑06‑24; completion 2025‑12‑17; status verified 2026‑01). Primary endpoint: change in RmICARS over ~6 months (baseline to Visit 9). (NCT06193200 chunk 1)

NAD+ boosting via nicotinamide ribonucleoside (NR)

• Phase 2, open-label proof-of-concept in A‑T: NR 300 mg/day for 2 years; endpoints include NAD metabolome in blood, SARA/ICARS/AT‑NEST and exploratory AFP and metabolic markers (NCT04870866; first posted 2021‑05‑04; estimated primary completion 2024‑09‑03). (NCT04870866 chunk 1)

N‑acetyl‑L‑leucine (IB1001; levacetylleucine)

• Phase 3 randomized placebo-controlled cross‑over study in patients age ≥4 years; primary endpoint SARA (NCT06673056; first posted 2024‑11‑04). (NCT06673056 chunk 1)

Precision genetic therapy (mutation-specific ASO)

• Phase 1/2 ASO therapy (atipeksen) for recurrent ATM c.7865C>T splice variant; intrathecal dosing; endpoints include AT‑NEST and structured A‑T CGI and exploratory biomarkers including neurofilament light chain and AFP (NCT07215416; first posted 2025‑10‑10; not yet recruiting as of 2025‑10). (NCT07215416 chunk 1)

12.3 Expert analysis (trial readiness obstacles)

A 2023 Expert Opinion review emphasizes barriers to successful A‑T trials including phenotype variability, delayed diagnosis, lack of validated biomarkers/outcome measures, incomplete understanding of neurologic injury, and rarity that limits randomized trial size. (kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3)

13. Prevention

13.1 Primary/tertiary prevention

• Avoid/limit ionizing radiation exposure and radiomimetic agents due to radiosensitivity. (collyer2024ataxiatelangiectasia pages 3-5)

13.2 Vaccination considerations

In the large Latin American cohort, no live-vaccine complications were reported, supporting that vaccination practices can be feasible but must be individualized to immune status. (pereira2024ataxiatelangiectasiainlatin pages 1-6)

13.3 Genetic counseling

Autosomal recessive inheritance and consensus recommendations for genetic testing imply a central role for genetic counseling and cascade testing, but specific prenatal/carrier screening protocols were not retrieved in this evidence set (gap). (nakano2024updateonrecommendations pages 1-2)

14. Other Species / Natural Disease

Naturally occurring A‑T in non‑human species was not identified in the retrieved evidence (gap).

15. Model Organisms

15.1 Key models and what they capture

• ATM-null mouse models: reported limitation—do not recapitulate human cerebellar degeneration well. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3)
• Human iPSC-derived microglia/neuron co-culture models: show microglia-driven inflammatory activation and neuronal cytotoxicity, enabling mechanistic dissection and candidate therapeutic testing of neuroinflammatory pathways. (lai2024atmdeficiencyinducedmicroglialactivation pages 10-11)

Direct quotes from abstracts (supporting key statements)

1) Large human cohort (2024; Immunologic Research): - “Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency.” (pereira2024ataxiatelangiectasiainlatin pages 1-6) - “Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0) years, respectively.” (pereira2024ataxiatelangiectasiainlatin pages 1-6)

2) Trial landscape review (2023; Expert Opinion on Investigational Drugs): - “Ataxia telangiectasia (A-T) is a life-limiting autosomal recessive disease characterized by cerebellar degeneration, ocular telangiectasias, and sinopulmonary disease.” (kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3)

Data gaps and curation notes

• MONDO / Orphanet / ICD‑10/ICD‑11 identifiers were not retrieved via the current tool evidence set and should be filled from OMIM/Orphanet/MONDO cross-references in a subsequent curation pass.
• Variant-level spectrum, ClinVar assertions, allele frequencies (gnomAD), founder effects, and carrier frequency were not captured in retrieved sources.
• Detailed cancer surveillance modality and schedule for A‑T beyond diagnostic recognition was not extracted (although AACR 2024 paper establishes A‑T within genomic instability disorders and diagnostic testing framework). (nakano2024updateonrecommendations pages 1-2)

References

1. (pereira2024ataxiatelangiectasiainlatin pages 1-6): Renan A. Pereira, Ellen O. Dantas, Jessica Loekmanwidjaja, Juliana T. L. Mazzucchelli, Carolina S. Aranda, Maria E. G. Serrano, Elisabeth A. De La Cruz Córdoba, Liliana Bezrodnik, Ileana Moreira, Janaira F. S. Ferreira, Vera M. Dantas, Valéria S. F. Sales, Carmen C. Fernandez, Maria M. S. Vilela, Isabela P. Motta, Jose Luis Franco, Julio Cesar Orrego Arango, Jesús A. Álvarez-Álvarez, Lina Rocío Riaño Cardozo, Julio C. Orellana, Antonio Condino-Neto, Cristina M. Kokron, Myrthes T. Barros, Lorena Regairaz, Diana Cabanillas, Carmen L. N. Suarez, Nelson A. Rosario, Herberto J. Chong-Neto, Olga A. Takano, Maria I. S. V. Nadaf, Lillian S. L. Moraes, Fabiola S. Tavares, Flaviane Rabelo, Jessica Pino, Wilmer C. Calderon, Daniel Mendoza-Quispe, Ekaterini S. Goudouris, Virginia Patiño, Cecilia Montenegro, Monica S. Souza, Aniela BXCCastelo Branco, Wilma C. N. Forte, Flavia A. A. Carvalho, Gesmar Segundo, Marina F. A. Cheik, Persio Roxo-Junior, Maryanna Peres, Annie M. Oliveira, Arnaldo C. P. Neto, Maria Claudia Ortega-López, Alejandro Lozano, Natalia Andrea Lozano, Leticia H. Nieto, Anete S. Grumach, Daniele C. Costa, Nelma M. N. Antunes, Victor Nudelman, Camila T. M. Pereira, Maria D. M. Martinez, Francisco J. R. Quiroz, Aristoteles A. Cardona, Maria E. Nuñez-Nuñez, Jairo A. Rodriguez, Célia M. Cuellar, Gustavo Vijoditz, Daniélli C. Bichuetti-Silva, Carolina C. M. Prando, Sérgio L. Amantéa, and Beatriz T. Costa-Carvalho. Ataxia-telangiectasia in latin america: clinical features, immunodeficiency, and mortality in a multicenter study. Immunologic research, 72:864-873, Jun 2024. URL: https://doi.org/10.1007/s12026-024-09494-5, doi:10.1007/s12026-024-09494-5. This article has 4 citations and is from a peer-reviewed journal.

2. (nakano2024updateonrecommendations pages 1-2): Yoshiko Nakano, Roland P. Kuiper, Kim E. Nichols, Christopher C. Porter, Harry Lesmana, Julia Meade, Christian P. Kratz, Lucy A. Godley, Luke D. Maese, Maria Isabel Achatz, Payal P. Khincha, Sharon A. Savage, Andrea S. Doria, Mary-Louise C. Greer, Vivian Y. Chang, Lisa L. Wang, Sharon E. Plon, and Michael F. Walsh. Update on recommendations for cancer screening and surveillance in children with genomic instability disorders. Clinical cancer research : an official journal of the American Association for Cancer Research, 30:5009-5020, Sep 2024. URL: https://doi.org/10.1158/1078-0432.ccr-24-1098, doi:10.1158/1078-0432.ccr-24-1098. This article has 20 citations.

3. (collyer2024ataxiatelangiectasia pages 3-5): John Collyer and Deepa S Rajan. Ataxia telangiectasia. Seminars in Pediatric Neurology, 52:101169, Dec 2024. URL: https://doi.org/10.1016/j.spen.2024.101169, doi:10.1016/j.spen.2024.101169. This article has 15 citations.

4. (tiet2024exploringneurodegenerationin pages 9-16): May Yung Tiet. Exploring neurodegeneration in ataxia-telangiectasia. Dissertation, Sep 2024. URL: https://doi.org/10.17863/cam.112012, doi:10.17863/cam.112012. This article has 0 citations.

5. (NCT06193200 chunk 2): Evaluate the Neurological Effects of EryDex on Subjects With A-T. Quince Therapeutics S.p.A.. 2024. ClinicalTrials.gov Identifier: NCT06193200

6. (NCT06193200 chunk 1): Evaluate the Neurological Effects of EryDex on Subjects With A-T. Quince Therapeutics S.p.A.. 2024. ClinicalTrials.gov Identifier: NCT06193200

7. (lai2024atmdeficiencyinducedmicroglialactivation pages 1-3): Jenny Lai, Didem Demirbas, Junho Kim, Ailsa M. Jeffries, Allie Tolles, Junseok Park, Thomas W. Chittenden, Patrick G. Buckley, Timothy W. Yu, Michael A. Lodato, and Eunjung Alice Lee. Atm-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell Reports, 43:113622, Jan 2024. URL: https://doi.org/10.1016/j.celrep.2023.113622, doi:10.1016/j.celrep.2023.113622. This article has 33 citations and is from a highest quality peer-reviewed journal.

8. (NCT04870866 chunk 1): Hilde Nilsen. NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia. University Hospital, Akershus. 2019. ClinicalTrials.gov Identifier: NCT04870866

9. (NCT06673056 chunk 1): A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T). IntraBio Inc. 2025. ClinicalTrials.gov Identifier: NCT06673056

10. (NCT07215416 chunk 1): Timothy Yu. Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T). Timothy Yu. 2025. ClinicalTrials.gov Identifier: NCT07215416

11. (amirifar2019ataxia‐telangiectasiaareview pages 6-9): Parisa Amirifar, Mohammad Reza Ranjouri, Reza Yazdani, Hassan Abolhassani, and Asghar Aghamohammadi. Ataxia‐telangiectasia: a review of clinical features and molecular pathology. Pediatric Allergy and Immunology, 30:277-288, Mar 2019. URL: https://doi.org/10.1111/pai.13020, doi:10.1111/pai.13020. This article has 244 citations and is from a domain leading peer-reviewed journal.

12. (kuhn2023ataxiatelangiectasiaclinicaltrial pages 1-3): Katrina Kuhn, Howard M. Lederman, and Sharon A. McGrath-Morrow. Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome. Expert Opinion on Investigational Drugs, 32:693-704, Aug 2023. URL: https://doi.org/10.1080/13543784.2023.2249399, doi:10.1080/13543784.2023.2249399. This article has 13 citations and is from a peer-reviewed journal.

13. (collyer2024ataxiatelangiectasia pages 5-7): John Collyer and Deepa S Rajan. Ataxia telangiectasia. Seminars in Pediatric Neurology, 52:101169, Dec 2024. URL: https://doi.org/10.1016/j.spen.2024.101169, doi:10.1016/j.spen.2024.101169. This article has 15 citations.

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