Autosomal dominant parkinsonism, hypoventilation, depression and weight loss (Perry syndrome) has been reported in only seven families worldwide. It is a rapidly progressive disease leading to death from respiratory insufficiency within a few years. Parkinsonism is usually mild, with bradykinesia, rigidity, rest and postural tremor, and axial signs. Response to levodopa is poor although transient response has been occasionally observed. The early signs include parkinsonism, depression and weight loss, whereas hypoventilation is a late feature. Neuropathology shows severe neuronal loss in the substantia nigra, less prominent neuronal loss in the locus coeruleus, and no or few Lewy bodies. In this review, we also propose diagnostic criteria for this condition.