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Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
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[Familial Wernicke's-like encephalopathy].

Hiroaki Miyajima1, Satoshi Kono

  • 1First Department of Medicine, Hamamatsu University School of Medicine.

Rinsho Shinkeigaku = Clinical Neurology
|September 17, 2011
PubMed
Summary

A rare genetic disorder causes Wernicke-like encephalopathy symptoms without thiamine deficiency. This condition, linked to SLC10A3 mutations, highlights genetic impacts on thiamine metabolism.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Wernicke's encephalopathy is a neurological condition typically caused by thiamine deficiency, presenting with ataxia, ophthalmoplegia, and confusion.
  • Genetic factors can influence thiamine metabolism and transport, potentially leading to neurological syndromes.
  • Understanding genetic contributions to thiamine-related disorders is crucial for diagnosis and treatment.

Observation:

  • Two brothers presented with a novel recessively inherited syndrome mimicking Wernicke's encephalopathy, including diplopia, ataxia, and confusion.
  • Symptoms were responsive to high-dose thiamine, despite normal serum thiamine levels and no history of alcoholism.
  • Brain MRI revealed characteristic Wernicke's encephalopathy lesions in the medial thalamus and periaqueductal region.

Findings:

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  • Genomic analysis identified compound heterozygous mutations (K44E and E320Q) in the SLC10A3 gene, which encodes human thiamine transporter 2.
  • In vitro studies demonstrated significantly reduced intracellular thiamine uptake in cells with these mutations.
  • High expression of SLC19A3 RNA in the thalamus may correlate with the observed selective thalamic lesions.

Implications:

  • This study identifies a new genetic disorder affecting thiamine transport and metabolism.
  • The findings provide novel insights into the pathogenesis of Wernicke-like encephalopathy and the role of genetic factors.
  • This discovery underscores the importance of considering genetic causes for unexplained neurological syndromes related to thiamine metabolism.