© 2017, GENASSIST, Inc. 

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital 

Dementia: A chronic or persistent disorder of the mental processes caused by brain disease or injury or marked by memory disorder, personality change or impaired reasoning.

Incidence:

  • Approximately 1 in 14 after 65 years of age
  • Approximately 1 in 8 after 80 years of age

Wernicke-Korsakoff Syndrome: Results from a severe thiamine (Vitamin B1) deficiency. Severe nutritional deficiency due to anorexia or severe dieting, starvation, chronic infection, AIDS, weight loss surgery, vomiting, dialysis or disseminated cancer that has spread and excess alcohol intake have all been implicated.

Often preceded by Wernicke encephalopathy manifested by mental confusion, coordination and movement difficulties and abnormal eye movement.

Korsakoff Syndrome patients often have loss of short and long term memory or may make up stories which they later cannot recall and have difficulty learning new information.

Careful history may elicit behaviors suggesting the possibility of thiamine deficiency including excess alcohol consumption.

Some patients may demonstrate an autosomal recessive pattern of inheritance with a metabolic defect in their Transketolase (TKT) gene believed to be on chromosome 3p14.3.

This defect limits the binding to thiamine pyrophosphate (TPP) resulting in thiamine deficiency. This defect alone usually does not explain all the symptoms of Wernicke-Korsakoff Syndrome.

Treatment with thiamine tetrahydrofurfuryl disulfide which is absorbed better than some other thiamine products may ameliorate some but usually not all of the symptoms. This enzyme defect may increase the susceptibility to brain injury from thiamine deficiency in some patients.

The roles of transketolase-like genes preliminarily located to the X chromosome (Xq28) and on chromosome 4q32.2 are less well understood.