ArticleNeurobiology of disease2012
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
Article in Neurobiology of disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Review
- Distinct inflammatory profiles in young-onset versus late-onset Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Brain Trauma and the Secondary Cascade in Humans: Review of the Potential Role of Vitamins in Reparative Processes and Functional Outcome.Behavioral sciences (Basel, Switzerland) · 2023Review
- High Dose Pharmaceutical Grade Biotin (MD1003) Accelerates Differentiation of Murine and Grafted Human Oligodendrocyte Progenitor Cells In Vivo.International journal of molecular sciences · 2022Article
- Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.Neurology. Clinical practice · 2021Article
- Myelin Repair: From Animal Models to Humans.Frontiers in cellular neuroscience · 2021Review
- Biotin rescues mitochondrial dysfunction and neurotoxicity in a tauopathy model.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- High-dose pharmaceutical grade biotin (MD1003) in amyotrophic lateral sclerosis: A pilot study.EClinicalMedicine · 2020Article
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.Molecular genetics and metabolism reports · 2016Article
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. We have developed a transgenic knock-out mouse with biotinidase deficiency to better understand aspects of pathophysiology and natural history of the disorder in humans. Neurological deficits observed in symptomatic mice with biotinidase deficiency are similar to those seen in symptomatic children with the disorder. Using a battery of functional neurological assessment tests, the symptomatic mice performed poorly compared to wild-type mice. Demyelination, axonal degeneration, ventriculomegaly, and corpus callosum compression were found in the brains of untreated, symptomatic enzyme-deficient mice. With biotin treatment, the symptomatic mice improved neurologically and the white matter abnormalities resolved. These functional and anatomical findings and their reversal with biotin therapy are similar to those observed in untreated, symptomatic and treated individuals with biotinidase deficiency. The mouse with biotinidase deficiency appears to be an appropriate animal model in which to study the neurological abnormalities and the effects of treatment of the disorder.
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Registered trials
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