Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment

Kassem, Hassan; Wafaie, Ahmed; Al-Suhibani, Sari Saleh; Farid, T.

doi:10.3174/ajnr.a3966

Cited by 35 publications

(32 citation statements)

References 20 publications

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“…It is interesting to note that in spite of good clinical recovery with successful treatment of BBGD, the recent brain MRI study of both patients after over 25 years of diagnosis, continues to show changes in the basal ganglia. This affirms the previous reports (1,8). In addition, Husain et al have reported diminished volume of putamen in brain MRI of patients with major depression (9).…”

Section: Discussionsupporting

confidence: 90%

Depression in adult patients with biotin responsive basal ganglia disease

Bubshait

Rashid

Al‐Owain

et al. 2016

DD&T

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Section: Discussionsupporting

confidence: 90%

Depression in adult patients with biotin responsive basal ganglia disease

Bubshait

Rashid

Al‐Owain

et al. 2016

DD&T

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“…Radiologically, thiamine supplementation leads to a significant reduction in the extension of brain lesions. In some cases, lesions are completely reversed, while in other cases residual atrophy and necrosis can be observed . Suzuki et al analyzed the therapeutic effects of high‐dose thiamine treatment in knock‐in (KI) and knock‐out (KO) Slc19a3‐deficient mice.…”

Section: Inborn Errors Of Metabolism Leading To Thiamine Dysfunction mentioning

confidence: 99%

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies

Marcé‐Grau

Martí-Sánchez

Baide‐Mairena

et al. 2019

J of Inher Metab Disea

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Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and participates in multiple cellular metabolic processes within the cytosol, mitochondria, and peroxisomes. Currently, four genetic defects have been described causing impairment of thiamine transport and metabolism: SLC19A2 dysfunction leads to diabetes mellitus, megaloblastic anemia and sensory‐neural hearing loss, whereas SLC19A3, SLC25A19, and TPK1‐related disorders result in recurrent encephalopathy, basal ganglia necrosis, generalized dystonia, severe disability, and early death. In order to achieve early diagnosis and treatment, biomarkers play an important role. SLC19A3 patients present a profound decrease of free‐thiamine in cerebrospinal fluid (CSF) and fibroblasts. TPK1 patients show decreased concentrations of thiamine pyrophosphate in blood and muscle. Thiamine supplementation has been shown to improve diabetes and anemia control in Rogers' syndrome patients due to SLC19A2 deficiency. In a significant number of patients with SLC19A3, thiamine improves clinical outcome and survival, and prevents further metabolic crisis. In SLC25A19 and TPK1 defects, thiamine has also led to clinical stabilization in single cases. Moreover, thiamine supplementation leads to normal concentrations of free‐thiamine in the CSF of SLC19A3 patients. Herein, we present a literature review of the current knowledge of the disease including related clinical phenotypes, treatment approaches, update of pathogenic variants, as well as in vitro and in vivo functional models that provide pathogenic evidence and propose mechanisms for thiamine deficiency in humans.

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“…Thiamine also exerts its effects on biotin–thiamine-responsive basal ganglia disease. It is a rare genetic disorder due to thiamine transporter-2 deficiency 16. An inter-relation between thiamine and Huntington’s disease has also been described 17…”

Section: Discussionmentioning

confidence: 99%

Progressive supranuclear palsy responding to intravenous thiamine: superimposed Wernicke’s encephalopathy?

Prakash¹,

Joshi

Patel

2018

BMJ Case Reports

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Progressive supranuclear palsy (PSP) may be a risk factor for thiamine deficiency. The classic symptoms of PSP (postural instability, supranuclear vertical gaze palsy and dementia) overlap with the clinical triad of Wernicke's encephalopathy (cognitive impairment, gait problems and ocular abnormality). Therefore, superimposed thiamine deficiency in patients with PSP may aggravate the pre-existing symptoms of PSP. Here, we are reporting a 64-year-old woman having supranuclear ocular palsy, gait instability and dementia for the past 2-3 years. The patient fulfilled the diagnostic criteria of PSP. In parallel, she fulfilled the Caine's criteria of Wernicke's encephalopathy. Her serum thiamine level was low. Supplementation of thiamine led to marked improvement in the symptoms which had been present for many years. These symptoms were originally presumed to be due to PSP. This case highlights the needs to identify superimposed thiamine deficiency in patients with PSP.

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Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment

Cited by 35 publications

References 20 publications

Depression in adult patients with biotin responsive basal ganglia disease

Depression in adult patients with biotin responsive basal ganglia disease

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies

Progressive supranuclear palsy responding to intravenous thiamine: superimposed Wernicke’s encephalopathy?

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