Neurogenetic disorders across the lifespan: from aberrant development to degeneration

Richard A. Hickman, Sarah A. O’Shea, Mark F. Mehler, Wendy K. Chung

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)117-124
Number of pages8
JournalNature Reviews Neurology
Issue number2
StatePublished - Feb 2022

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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