Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.

Background and Purpose-We investigated circadian rhythm in ischemic stroke onset and its subtypes, differentiating between first-ever stroke and recurrent stroke. Methods-A consecutive series of 1223 patients with ischemic stroke was admitted at 2 reference hospitals; the time of onset of symptoms was obtained, differentiating between onset while asleep and awake. We compared circadian rhythm between stroke types and between first-ever and recurrent stroke. Results-The onset time was known in 914 patients; 25.6% experienced onset on awakening [higher incidence in thrombotic and lacunar stroke (28.9% and 28.4%, respectively) than in embolic stroke (18.8%)]. For all stroke subtypes, there was a significant diurnal variation, with a morning peak between 6 AM and noon; after redistributing the hour of onset of patients awakening with stroke, the morning peak was minimal in all types of stroke. There were no differences in circadian rhythm between patients with first-ever and recurrent stroke. Conclusions-Only hospitalized patients were studied. There is a circadian rhythm in all types of stroke, with higher frequency during the day and lower frequency in the last hours in the evening. The highest incidence in the early hours of the morning can be overestimated, due to patients who awaken with stroke. There is no difference in circadian rhythm between first-ever stroke and recurrent stroke. (Stroke. 1998;29:1873-1875.)

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In this study the authors show that hemangiopericytomas could be clearly distinguished from meningiomas because they have a larger peak at 3.56 ppm. Measurements of extracts of the tumors and comparison of spectra acquired with MRS at long- (135-msec) and short- (20-msec) echo times established that this was due to the much higher levels of myoinositol in the hemangiopericytomas.

Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

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