Tag Archives: #parkinsonsdiseasedementia

Dementia – Parkinson’s Disease

Friday, 19 April 2019 08:00
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© 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

Definitions:

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.

Parkinson’s Disease: Progressive disorder affecting several areas of the brain specially substantia nigra which controls balance and movement.

Incidence:

  • 1-2% of the general population
  • 2-4% in 60 year olds or greater
  • If 1st degree relative with Parkinson Disease: Risk is 4-9% higher than the population risk
  • 15-25% of Parkinson Disease is Familial

Juvenile Onset Parkinson’s Disease: Onset before 20 years of age

Early Onset Parkinson’s Disease: Before 50 years of age

Regular Onset Parkinson’s Disease: Usually after 50 years of age

70% of patients with Parkinson’s Disease develop dementia.  

 Mortality risk higher if dementia present.

http://www.parkinson.org/

Genes Involved in Autosomal Recessive Type Parkinson’s Disease:

  • PARK2 (PARKIN) (chromosome 6q25)
  • PARK7 (DJ1) (chromosome 1p36)
  • PINK1 (PARK6) (chromosome 1p36)
  • PARK9 (ATP13A2) (chromosome 1p36)O

Other Genes Usually Involved in Autosomal Dominant Pattern of Inheritance of Parkinson’s Disease: 

  • PARK1 (chromosome 4q21)
  • PARK10 (chromosome 1p32)
  • PARK11 (chromosome 2q37)
  • PARK7 (DJ1) (chromosome 1p36 – ? early onset)
  • SNCA (chromosome 4q21)

Genes That Modify the Risk of Developing Parkinson’s Disease: 

  • GBA (chromosome 1q21)
  • UCHL1 (chromosome 4p14)

Dementia

Friday, 08 April 2016 08:00
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Dementia© 2016
By Keith S. Wexler, MBA,
Facilitator of Information, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech Consultant, GENASSIST™, Inc.

Definitions:
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.

Cortex: The outer layer of the cerebral cortex composed of folded gray matter

Subcortex: Tissue lying immediately below the cortex

Incidence:
Approximately 1 in 14 after 65 years of age Approximately 1 in 8 after 80 years of age

Many risk factors increase likelihood of Dementia:
Increasing age High blood pressure Stroke Heart disease Diabetes High cholesterol Smoking Decreased exercise Alcohol Depression

There are at least 10 “Patterns” of Dementia:
Alzheimer’s after age 65 years
Alzheimer’s (Early Onset)
Creutzfeldt-Jakob Disease
Down Syndrome
Fronto-Temporal Dementia
Huntington’s Disease
Lewy Body Dementia
Parkinson’s Disease
Vascular Dementia
Wernicke-Korsakoff Syndrome

Types of Dementia:

Cortical Dementia: Alzheimer’s, Creutzfeldt-Jakob Disease, Frontotemporal Dementia, Wernicke-Korsakoff Syndrome [alcohol, Vitamin B1 (thiamine) deficiency, AIDS (Acquired Immune Deficiency Syndrome), excessive dieting, severe vomiting, infection, starvation, dialysis and cancer].

Subcortical Dementia: Huntington’s Disease Parkinson’s Disease, Vascular Dementia

Mutations in at least 25 genes have been implicated as having a role in the various types of dementia. The types of genes involved are often described as:
“Causative” 
“Susceptibility”
“Associated”
“Modifying”
“Protective”

The combination of roles for the various genes help to explain the variability in the onset, severity, ethnic, geographical and sexual differences, the risk to other family members and the risk to a specific individual of ever developing dementia or a specific type of dementia.

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