Verhoeven Willem M A, Tuinier Siegfried
Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
Int Rev Neurobiol. 2006;72:119-30. doi: 10.1016/S0074-7742(05)72007-9.
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.
普拉德-威利综合征（PWS）是由于父源15号染色体q11-q13区域基因表达缺失所致，可被视为一种下丘脑疾病。其行为表型的特征为仪式化、刻板和强迫行为以及运动异常。青春期后，复发性情感性精神病相对常见，尤其是单亲二体患者。这些精神病状态起病亚急性，可完全恢复，且包括精神运动症状增加，与紧张症相似。已有一些证据表明，γ-氨基丁酸（GABA）功能障碍与PWS和紧张症均有关。这些非典型精神病的治疗最好应包括如劳拉西泮、丙戊酸以及可能的托吡酯等GABA模拟化合物。
