Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].


The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of nuclear gene-encoded Leigh syndrome spectrum (LSS), management, especially treatable disorders, and relevant genetic counseling issues. The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of nuclear gene-encoded LSS.

Goal 2: Review the genetic causes of nuclear gene-encoded LSS.

Goal 3: Provide an evaluation strategy to identify the genetic cause of nuclear gene-encoded LSS in a proband (when possible).

Goal 4: Review management of nuclear gene-encoded LSS, especially treatable disorders.

Goal 5: Inform genetic counseling of family members of an individual with nuclear gene-encoded LSS.

Publication types

  • Review