Encephalopathy, Progressive, with or Without Lipodystrophy (PELD)

Encephalopathy, Progressive, with or Without Lipodystrophy, also known as severe neurodegenerative syndrome with lipodystrophy, is related to charcot-marie-tooth disease, axonal, type 2e and intervertebral disc disease, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Encephalopathy, Progressive, with or Without Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include skin and liver, and related phenotypes are progressive encephalopathy and cognitive impairment