Abstract
We report transcranial sonography findings in two siblings (one male and one female) of a proband with Perry syndrome. A moderate degree of parkinsonism and prominent apathy were present in both subjects. The female patient displayed dyspnea and weight loss, indicating more advanced stages of Perry syndrome and for whom recently discovered specific mutation of Perry syndrome had been identified. In both patients, transcranial sonography exhibited marked substantia nigra (SN) hyperechogenicity, which is characteristic of idiopathic Parkinson's disease. This observation, together with similar findings reported for several different types of monogenic forms of parkinsonism, supports the suggestions that SN hyperechogenicity may be a common sign of nigral degeneration irrespective of underlying molecular pathology.
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