Int Rev Neurobiol. 2006.
Prader-Willi syndrome: atypical psychoses and motor dysfunctions.
Verhoeven WM, Tuinier S.
Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

Prader-Willi syndrome (PWS) is the result of a lack of expression of genes on the paternally derived chromosome 15q11-q13 and can be considered as a hypothalamic disorder. Its behavioral phenotype is characterized by ritualistic, stereotyped, and compulsive behaviors as well as motor abnormalities. After adolescence, recurrent affective psychoses are relatively frequent, especially in patients with uniparental disomy. These psychotic states have a subacute onset with complete recovery and comprise an increase of psychomotor symptoms that show resemblance with catatonia. Some evidence has emerged that gamma-aminobutyric acid (GABA) dysfunctionality is involved in both PWS and catatonia. Treatment of these atypical psychoses should preferably include GABA mimetic compounds like lorazepam, valproic acid, and possibly topiramate.

[Note: Valproic acid (Depakote) is a known mitochondrial toxin that can severely deplete muscle carnitine, leading to a fulminant hyperammonemia and encephalopathy that can be fatal. As such, its use seems questionable in a population with impaired mitochondrial function and fatty acid metabolism.]

Categories: 2006, PWS, PWS-UPD, Stereotypic movement disorder, OCD, Psychosis, GABA, Catatonia