Neurogenetic Disorders Across the Lifespan: from Aberrant Development to Degeneration

Overview

Journal Nat Rev Neurol

Specialty Neurology

Date 2022 Jan 6

PMID 34987232

Citations 18

Authors

Richard A Hickman

Sarah A OShea

Mark F Mehler

Wendy K Chung

Affiliations

Soon will be listed here.

Abstract

Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing is increasingly performed in individuals with these diagnoses to inform prognosis, refine management and provide information about recurrence risk in the family. For neurogenetic conditions associated with intellectual disability and ASD, data on natural history in adults are scarce; however, as older adults with these disorders are identified, it is becoming clear that some conditions are associated with both neurodevelopmental problems and neurodegeneration. Moreover, emerging evidence indicates that some neurogenetic conditions associated primarily with neurodegeneration also affect neurodevelopment. In this Perspective, we discuss examples of diseases that have developmental and degenerative overlap. We propose that neurogenetic disorders should be studied continually across the lifespan to understand the roles of the affected genes in brain development and maintenance, and to inform strategies for treatment.

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