Tier 4 — mechanistic

Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual

Steinbrücker K, Tiefenthaler E, Schernthaner EM, Jungwirth J, Wortmann SB
Neuropediatrics 2023 54; 1; 78-81

Bibliography

PubMed
PMID 36223879
DOI
10.1055/a-1959-9404
Funding
Indexed grant support includes Austrian Science Fund (FWF) I4704-B. The complete funding declaration is not specified in the accessible abstract.
Competing interests
The publication provides individual declarations of financial or nonfinancial interests; consult the source for the complete disclosures.

Study snapshot

DesignClinical case report
ModelHuman participants
SampleOne child with ataxia telangiectasia
InterventionOral NR begun at age 3 years 6 months
Duration11 months of follow-up
EndpointsAtaxia and motor scores; infection-related care

What the study showed, in plain terms

The case report described improvements in motor scores and fewer infection-related care episodes during NR use.

Key findings

The case report described improvements in motor scores and fewer infection-related care episodes during NR use.

What this study can and cannot tell us

A single uncontrolled child’s course, with maturation and other care as possible explanations; not a pediatric supplementation recommendation.

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Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology