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Background: Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood. Cases: We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years. She later developed a diffuse dystonic tremor and mild extrapyramidal signs (ie, rigidity and hypodiadochokinesis) in her right arm. She also suffered from psychomotor delay and learning difficulties. Repeated structural and functional neuroimaging were unremarkable. A dystonic tremor was also present in her two sisters. Her paternal aunt, father, and a third older sister presented episodic postural tremor in the arms. The father and one sister also presented learning difficulties. The heterozygous p.G6V variant in ANO3 was identified in all affected subjects. Literature review: Stratification by age at onset divided ANO3 cases into two major groups, where younger patients displayed a more severe phenotype, probably due to variants near the scrambling domain. Conclusions: We describe the phenotype of a new ANO3 family and highlight the need for functional studies to explore the impact of ANO3 variants on its phospholipid scrambling activity.

This work investigates an electronic technique and system for non contact reading of the temperature dependent resonant frequency of piezoelectric MEMS resonators The proposed approach exploits magnetic coupling between an interrogation unit and a sensor unit to achieve non contact operation A dedicated electronic circuit in the interrogation unit alternatively switches the system between the excitation and detection phases thus implementing a time gated technique The MEMS resonator in the sensor unit is driven into resonance during the excitation phase while its damped response is sensed in the detection phase An electronic circuit down mixes the damped response of the resonator and the frequency of the resulting signal is measured through a post processing technique based on autocorrelation The system has been applied to the reading of a temperature sensor based on a MEMS aluminum nitride thin film piezoelectric on silicon disk resonator vibrating in radial contour mode The experimental characterization of the non contact system determined the temperature coefficient of frequency of the MEMS resonator to be 47 4 ppm C in good agreement with the measurements taken by directly probing the resonator

The relative risk of developing idiopathic PD is 1.5 times greater in men than in women, but an increased female prevalence in LRRK2-carriers has been described in the Ashkenazi Jewish population. We report an update about the frequency of major LRRK2 mutations in a large series of consecutive patients with Parkinson's disease (PD), including extensive characterization of clinical features. In particular, we investigated gender-related differences in motor and non-motor symptoms in the LRRK2 population. Methods: 2976 unrelated consecutive Italian patients with degenerative Parkinsonism were screened for mutations on exon 41 (G2019S, I2020T) and a subgroup of 1190 patients for mutations on exon 31 (R1441C/G/H). Demographic and clinical features were compared between LRRK2-carriers and non-carriers, and between male and female LRRK2 mutation carriers. Results: LRRK2 mutations were identified in 40 of 2523 PD patients (1.6%) and not in other primary parkinsonian syndromes. No major clinical differences were found between LRRK2-carriers and non-carriers. We found a novel I2020L missense variant, predicted to be pathogenic. Female gender was more common amongst carriers than non-carriers (57% vs. 40%; p=0.01), without any gender-related difference in clinical features. Family history of PD was more common in women in the whole PD group, regardless of their LRRK2 status. Conclusions: PD patients with LRRK2 mutations are more likely to be women, suggesting a stronger genetic load compared to idiopathic PD. Further studies are needed to elucidate whether there is a different effect of gender on the balance between genetic and environmental factors in the pathogenesis of PD.

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Italian consensus for the classification and reporting of thyroid cytology

Objective: To identify the real number of hyperhomocysteinemic Alzheimer's patients who may benefit from homocysteine-lowering therapy. Methods: Basal and post-methionine load homocysteine levels were assessed by rp-HPLC system. Results: PML test revealed twice as many hyperhomocysteinemic AD subjects with respect to the fasting analysis. Conclusion: PML test resulted useful in detecting higher number of hyperhomocysteinemic AD patients who may have the chance of an early folate treatment