Regional cerebral blood flow and neuropsychological performance in a Danish family with X-linked bulbo-spinal neuronopathy.

Regional Cerebral Blood Flow (rCBF) measurements and neuropsychological evaluation were performed in 6 patients from a Danish family affected with X-linked Bulbo-Spinal Neuronopathy (XBSN). This inherited form of motor neuron disease (MND) has been shown to affect various functions within the nervous and the endocrine systems. We investigated the possibility that focal or diffuse cortical deficits. already demonstrated in MND, were present in XBSN. The global CBF values of the patients, when compared to age- and sex- matched healthy controls, were found reduced, but no focal rCBF alterations, nor increased regional side-to-side asymmetry were observed. The neuropsychological evaluation showed no cognitive impairments. We conclude that cortical perfusion and cognitive functions are not significantly altered in XBSN. © 1995 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted