Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India

Review Neurosciences

Genetics and Molecular Pathogenesis of Human Hydrocephalus

Maria Garcia-Bonilla et al.

Summary: Hydrocephalus is a neurological disorder with a complex molecular pathogenesis that involves both genetic and environmental influences, affecting about 80-125 per 100,000 live births in the United States. From well-characterized heritable forms to complex pathologies like neural tube defects and Dandy-Walker syndrome, the genetic and molecular alterations in human hydrocephalus are varied. Key patterns among congenital and acquired forms of hydrocephalus include disruptions in cadherins, which play a role in neuroepithelium/ependymal cell junctions and contribute to the severity of the disease. Future research should focus on elucidating the genetic and molecular mechanisms regulating ventricular zone integrity and stem cell biology in relation to hydrocephalus pathogenesis and neurodevelopment.

NEUROLOGY INDIA (2021)

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Review Neurosciences

Chronic Neurological Disorders: Genetic and Epigenetic Markers for Monitoring of Pharmacotherapy

Sudhir Chandra Sarangi et al.

Summary: This review article discusses the association of genetic and epigenetic markers with major neurological disorders like multiple sclerosis, Alzheimer's disease, and Parkinson's disease. The study found significant correlations between specific genetic and epigenetic markers and the clinical diagnosis and prognosis of therapy for these diseases, which may aid in determining future pharmacotherapy and monitoring strategies. It is anticipated that these biomarkers will increasingly be used as indicators for pharmacotherapeutic outcomes as healthcare systems continue to advance.

NEUROLOGY INDIA (2021)

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Article Clinical Neurology