PGRN is strongly expressed in MS brains, by macrophages/microglia in active lesions, and by activated microglia in the NAWM; PGRN CSF concentrations in MS are correspondingly increased in conditions of enhanced macrophage/microglia activation, such as during relapses and in progressive MS.
SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of >or=51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.
The striatal D2 receptor was investigated for variability of behavior in 16 patients with Parkinson disease by means of SPECT using 123I-IBZM, a recently synthesized radioligand with high affinity and specificity for this type of receptor. All the patients underwent routine laboratory tests, EEG and cranial CT scanning as well as SPECT. To ensure accurate clinical assessment we used the Hoehn and Yahr, and Webster scales, NUDS and Mini Mental State examination. Our preliminary data indicate: increased uptake by the striatal dopamine receptor in untreated patients with early PD compared with controls (striatum/cerebellum ratio of 1.77 +/- 0.12 vs 1.59 +/- 0.13); a slight but significant lowering of D2 receptor binding when L-Dopa is started (1.49 +/- 0.09); low D2 uptake values in the more severely affected patients; absence of asymmetries in hemiparkinsonism.
A case of reversible catatonia in a well controlled insulin-dependent diabetic is described. The course of catatonia was characterized by very high CSF lactate values (serial semiautomatic determinations) during more than one month, beyond the clinical recovery. The CSF lactate elevations seem to reflect cerebral hypoxia. The uncommon coincidence of diabetes with cerebral atrophy, mental weakness, and perceptive deafness migh suggest the classification of this case of diabetes in the group 'associated with certain conditions and syndromes'.
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