Neurogenetic+Diseases

Neurogenetic diseases arise from single gene and/or chromosomal mutations (Figure 1), which affect individuals throughout various stages in their lives. These mutations can be inherited or environmentally influenced. Neurogenetic conditions begin either prenatally or can be triggered in postnatal-to-adult life. According to a 2005 study by the World Health Organization (WHO), neurological disorders constitute approximately 6.3% of the global disease load [1]. Currently, most genetic conditions are non-curable, but if treated correctly, can allow for a significant improvement in life. This is the basis for palliative research on genetic diseases: their underlying mechanisms and how we can ameliorate disease prognosis. Some major neurogenetic diseases today include: Creutzfeldt-Jakob disease (CJD), Down syndrome, Wilson’s disease, Niemann-Pick disease and Turner syndrome.



**1. Creutzfeldt-Jakob Disease (Shivam Kapadia)** 1. Classification [Sporadic vs. Infectious vs. Familial Creutzfeldt-Jakob disease] 2. Symptoms [Clinical, Neuropathological, Histological, Age-related features] 3. Genetic Mutations [Mutations--E200K, D178N, Codon 129 Polymorphism, OPRI] 4. Palliative Treatment 5. References

**2. Down Syndrome (Richa Gandhi)**  2.1 Cognitive Symptoms  2.2 The Amyloid Beta Precursor Protein (APP) and Amyloid Beta  2.3 Alzheimer’s Disease  2.4 Natural Amyloid Beta and APP Gene Dosage  2.5 Levels of Amyloid Beta  2.6 Cognitive-Based Interventions

**3. Wilson’s Disease (Jelum Raval)**  3.1 Symptoms: Neurological, Psychiatric and Others  3.2 Genetics: Mutations & the ATP7B gene/ATP transporter <span style="font-family: Arial,Helvetica,sans-serif;"> 3.3 Treatment: Pharmacological & Alternatives

<span style="font-family: Arial,Helvetica,sans-serif;">**4. Niemann-Pick Disease (Varun Gajendran)** <span style="font-family: Arial,Helvetica,sans-serif;"> 4.1 Classification: Types I vs Type II <span style="font-family: Arial,Helvetica,sans-serif;"> 4.2 Symptom: Neurological & Physiological <span style="font-family: Arial,Helvetica,sans-serif;"> 4.3 Transmission: Inherited vs. Acquired <span style="font-family: Arial,Helvetica,sans-serif;"> 4.4 Methods of Diagnosis, Neuroimaging & Recent Findings

<span style="font-family: Arial,Helvetica,sans-serif;">**5. Turner Syndrome (Nidhi Ravishankar)** <span style="font-family: Arial,Helvetica,sans-serif;"> 5.1 Prognosis: Cognitive, Psychiatric & Other <span style="font-family: Arial,Helvetica,sans-serif;"> 5.2 Genetic Mechanism: Xp Gene & Its Mutations <span style="font-family: Arial,Helvetica,sans-serif;"> 5.3 Brain Anatomical Differences: Turner patients vs. Normal <span style="font-family: Arial,Helvetica,sans-serif;">5.4 Diagnosis, Treatment & Current Research


 * References:**


 * 1) World Health Organization (2006//). Neurological Disorders – Public Health Challenges:// global burden of neurological disorders: estimates and projections. Geneva, Switzerland: WHO Press.
 * 2) Genetics in Medicine (2008). //Genetic Variation, Polymorphism, and Mutation//. Montreal, Quebec: McGill University.
 * 3) AP Bio Resource (2009). //Non Mendelian Inheritance//. Pleasanton, CA: Pleasanton Unified School District.