Among patients with frontotemporal lobar degeneration (FTLD), the respective frequencies of dominant 17q21-linked tau-negative FTLD (with unidentified molecular defect) and 17q21-linked tau-positive FTLD (due to MAPT mutations) remain unknown. Here, in a series of 98 genealogically unrelated Belgian FTLD patients, we identified an ancestral 8 cM MAPT containing haplotype in two patients belonging to multiplex families DR2 and DR8, without demonstrable MAPT mutations, in which FTLD was conclusively linked to 17q21 [maximum summed log of the odds (LOD) score of 5.28 at D17S931]. Interestingly, the same DR2-DR8 ancestral haplotype was observed in five additional familial FTLD patients, indicative of a founder effect. In the FTLD series, the DR2-DR8 ancestral haplotype explained 7% (7 out of 98) of FTLD and 17% (7 out of 42) of familial FTLD and was seven times more frequent than MAPT mutations (1 out of 98 or 1%). Clinically, DR2-DR8 haplotype carriers presented with FTLD often characterized by language impairment, and in one carrier the neuropathological diagnosis was FTLD with rare tau-negative ubiquitin-positive inclusions. Together, these results strongly suggest that the DR2-DR8 founder haplotype at 17q21 harbours a tau-negative FTLD causing mutation that is a much more frequent cause of FTLD in Belgium than MAPT mutations.
A recent transcranial Doppler study found reduced blood velocity in seven patients during migraine attacks in the middle cerebral artery at the headache side. This would implicate vasodilation of the middle cerebral artery in the pathogenesis of headache in migraine. We attempted to confirm this finding. We determined blood velocity with transcranial Doppler ultrasonography in the middle cerebral arteries of 51 migraine patients with unilateral headache (5 with aura, 46 without aura) and of 14 patients with bilateral headache, during and outside attacks. During attacks, median time from onset of attack to transcranial Doppler examination was 6 hours (range, 1 to 35 hours). We found no difference between blood velocity at the headache and nonheadache sides nor between blood velocity during and outside attacks. Similar results were obtained in a subgroup of 11 patients who were investigated in the first 4 hours of an attack. There were also no differences between attacks with unilateral or bilateral headache. We cannot support the hypothesis that migraine is associated with vasodilation of the middle cerebral artery ipsilateral to the headache.
Prosodic features in the speech production of 21 patients with idiopathic Parkinson's disease were tested. The appreciation of vocal and facial expression was also examined in the same patients. Significant intergroup differences were found in the prosody production tasks but, in contrast to previous results, not in the receptive tasks on the recognition and appreciation of prosody and of facial expression. The discrepancy between the production and recognition of prosodic features does not support the suggestion that dysprosody in Parkinson's disease is necessarily a disorder of' processing emotional information that could be misinterpreted as a dysarthria.
A pulsed Doppler device was used to measure blood flow velocities in the common carotid artery, the extracranial part of the internal carotid artery, the external carotid artery, the middle cerebral artery, and the anterior cerebral artery in 31 migraineurs without aura (n = 27) and with aura (n = 4), both during and outside an attack. The aims were to compare blood flow velocity during and between migraine attacks and to study asymmetries of the blood flow velocity. Compared with blood flow velocity values obtained in the attack-free interval, blood flow velocity was lower during attacks without aura in both common carotid arteries, but not in the other extra- and intracranial vessels which were examined. However, during attacks of migraine with aura, blood flow velocity tended to be lower in all examined vessels. There were no asymmetries of the blood flow velocity. We suggest that during migraine attacks without aura there is a dissociation in blood flow regulation in the common carotid and middle cerebral arteries.
We measured vascular reactivity--expressed i) as decrease in blood flow velocity (cm/sec) per vol% CO2 decrease due to voluntary hyperventilation and ii) as increase of blood flow velocity during the first minute after resuming normal ventilation, per vol% CO2 increase--in the middle cerebral and basilar artery of 48 migraineurs with attacks without aura, and 17 normal controls. We found no differences for both determinants of vascular reactivity between migraineurs during and outside an attack, and between migraineurs and healthy volunteers. We conclude that the vasomotor reactivity is normal during migraine attacks without aura.
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