ObjectiveTo describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA.MethodsThis is a descriptive study of a family that has been followed for more than a decade with periodic neurologic and neuropsychological examinations, MRI, brain SPECT perfusion, and genetic analysis. Whole exome sequencing was performed in 3 affected and 1 unaffected family member and subsequently validated by linkage analysis of chromosome 16p13.3.ResultsSix patients fully developed cognitive-affective and complete motor cerebellar syndrome associated with vermian and hemispheric cerebellar atrophy, suggesting a continuum from a dysexecutive syndrome slowly evolving to a complete and severe CCAS with late truncal ataxia. Three presymptomatic patients showed focal cerebellar atrophy in the vermian, paravermian, and the medial part of cerebellar lobes VI and VII, suggesting that cerebellar atrophy preceded the ataxia, and that the neurodegeneration begins in cerebellar areas related to cognition and emotion, spreading later to the whole cerebellum. Among the candidate variants, only the frameshift heterozygous c.823_824delCT STUB1 (p.L275Dfs*16) pathogenic variant cosegregated with the disease. The p.L275Dfs*16 heterozygous STUB1 pathogenic variant leads to neurodegeneration and atrophy in cognition- and emotion-related cerebellar areas and reinforces the importance of STUB1 in maintaining cognitive cerebellar function.ConclusionsWe report a heterozygous STUB1 pathogenic genetic variant causing dominant cerebellar ataxia. Since recessive mutations in STUB1 gene have been previously associated with SCAR16, these findings suggest a previously undescribed SCA locus (SCA48; MIM# 618093).

Background: Entry of nutrients into the small intestine activates neuro-hormonal signals that regulate food intake through induction of satiation. Objective: To evaluate whether caloric intake can be decreased by pharmacologically accelerating gastric emptying (GE) of nutrients into the small intestine. Methods: Subjects were tested in 2 days, at baseline (day1) and after randomly receiving, in a double-blind manner, a 1 h infusion of erythromycin (3 mg Kg À1 , to accelerate GE) or placebo (day 2). Ad libitum caloric intake and postprandial gastrointestinal symptoms were evaluated using a validated nutrient drink test, simultaneously measuring gastric by scintigraphy. Plasma levels of satiation factors were also measured to evaluate their role in the modification of caloric intake and postprandial symptoms. Acceleration of GE was assessed as the difference in percentage emptied between day 2 and day 1 (DGE). The effects of DGE on caloric intake and symptoms were evaluated using multiple (lineal) regression. Results: Among 30 overweight/obese subjects (24F and 6 M), 15 received erythromycin and 15 placebo. The overall median age was 36 years (IQR: 30-42) and body mass index was 30 Kg m À2 (IQR: 27-36). Subjects receiving erythromycin on day 2 presented accelerated GE as compared with placebo (P ¼ 0.0002). DGE at 15 min after initiating eating had a significant effect on prospective caloric intake (P ¼ 0.004). From the best-fitted regression model (R 2 ¼ 81%, Po0.0001), a 10% increase in GE at 15 min induced on an average a 135±43.5 Kcal decrease in caloric intake. Postprandial increase in cholecystokinin (CCK) (P ¼ 0.03) and insulin (P ¼ 0.02) was associated with decreased caloric intake. Acceleration of GE at 60 min after initiating eating increased postprandial symptom scores measured 30 min after the completion of food consumption (P ¼ 0.01). Postprandial increase in CCK (P ¼ 0.002) and PP (P ¼ 0.02) was associated with postprandial symptoms. Conclusion: Meal size can be reduced in overweight/obese subjects by pharmacologically accelerating GE. This may be a reasonable target in obesity management.

Sensitivity and specificity of (201)Tl-SPECT to detect glioma recurrences were 90% and 100% respectively and 93% accuracy. Sensitivity and specificity for high grade tumours, were 100% respectively. Due to 4 false negatives, sensitivity and specificity for low grade gliomas were 78% and 100%. In the positive (201)Tl-SPECT group of patients overall survival was 13.64% at the end of the study. The negative (201)Tl-SPECT group had 84.62% overall survival at the end of the study (p = 0.0003). CONCLUSIONS. (201)Tl-SPECT is a valuable and noninvasive diagnostic procedure to detect recurrence or progression disease for treated gliomas and ependymomas. (201)Tl-SPECT has a good correlation with short term prognosis with excellent diagnostic accuracy.

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A 59-year-old man, with a history of several years of parkinsonism and multiple vascular risk factors, presented to our unit to undergo I-123-Ioflupane (I-123-FP-CIT) and cerebral perfusion SPECT studies. Parkinson disease usually shows abnormal uptake in the striatum, which progresses from putamen to caudate and matches contralaterally the clinically more affected side. On the other hand, several reports have shown that normal I-123-FP-CIT images is the common pattern in vascular parkinsonism. Nevertheless, our case did not follow any of these models; we present a case of vascular parkinsonism with a concordant defect on I-123-Ioflupane and perfusion brain imaging. Further studies are needed to determine the different image patterns in this entity.