By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech 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.
Huntington’s Disease: Is a progressive disease which results in shrinkage of caudate nucleus and putamen and ventriculomegaly. Huntington Disease is usually inherited in an autosomal dominant manner. 1-3% of cases are sporadic.
At least 100 interacting proteins have been described with Huntington’s.
- 1 in 10,000 to 1 in 30,000
- Usually affects individuals at 30 to 50 years of age
- 16% of cases occur before 20 years of age (Juvenile Huntington’s Disease) – Juvenile Disease is usually more progressive and seizures may occur in 1/3 to ½ of these children.
Huntington Disease Gene (HTT) on the short arm of chromosome #4 (4p 16.3 ) provide instructions for making the protein Huntingtin.
CAG Repeat in the gene are usually increased in the disease:
- Normal CAG repeats </= 28 in the HTT gene codes for Huntington protein – protects against cell death (apoptosis) primarily in brain)
- Increased risk to next generation – 29 to 34 repeats – unaffected parent
- Increased Risk to next generation – 35-39 repeats – some increased risk to patient
- Greater than or equal to 40 repeats – individual will get Huntington’s Disease
- Juvenile Huntington’s Disease children often have more than 60 repeats
Symptoms of Huntington’s Disease Dementia:
- Movement disorders
- Cognitive and reasoning problems
- Personality changes
- Psychiatric disorders
As the disease passes from one generation to the next symptoms may be seen earlier (Anticipation)
- Tetrabenazine (Xenazine) for movement disorder specifically chorea
*Any of the medications can worsen symptoms and can cause dependence, abuse, and drowsiness.
- Speech Therapy
- Occupation Therapy
- Physical Therapy