Optical and infrared observations of the supernova SN 1999el

Optical and near-infrared light curves of the Type IIn supernova 1999el in NGC 6951 are presented. A period of 220 days (416 days in the near-infrared) is covered from the first observation obtained a few days before maximum light. Spectroscopic observations are also discussed. Using as a distance calibrator the Type Ia SN 2000E, which occurred some months later in the same galaxy, and fitting a blackbody law to the photometric data we obtain a maximum bolometric luminosity for SN 1999el of $\sim 10^{44}$ erg s$^{-1}$. In general, the photometric properties of SN 1999el are very similar to those of SN 1998S, a bright and well studied Type IIn SN, showing a fast decline in all observed bands similar to those of Type II-L SNe. The differences with SN 1998S are analyzed and ascribed to the differences in a pre-existing circumstellar envelope in which dust was already present at the moment of the SN outburst. We infer that light echoes may play a possibly significant role in affecting the observed properties of the light curves, although improved theoretical models are needed to account for the data. We conclude that mass loss in the progenitor RG stars is episodic and occurs in an asymmetric way. This implies that collapsing massive stars appear as normal Type II SN if this occurs far from major mass loss episodes, whereas they appear as Type IIn SNe if a large mass loss episode is in progress.Comment: 30 pages, 8 figures, figure 1 available as jpeg file, ApJ in pres

PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum

Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic significance is uncertain, but they have been suggested to represent risk factors to develop Parkinson disease (PD). The few large studies that assessed the frequency of PINK1 heterozygotes in cases and controls yielded controversial results, and the phenotypic spectrum is largely unknown. We retrospectively analyzed the occurrence of PINK1 heterozygous rare variants in over 1100 sporadic and familial patients of all onset ages and in 400 controls. Twenty patients and 6 controls were heterozygous, with frequencies (1.8% vs. 1.5%) not significantly different in the two groups. Clinical features of heterozygotes were indistinguishable to those of wild-type patients, with mean disease onset 10 years later than in carriers of two mutations but worse disease progression. A meta-analysis indicated that, in PINK1 heterozygotes, the PD risk is only slightly increased with a non significant odds ratio of 1.62. These findings suggest that PINK1 heterozygous rare variants play only a minor susceptibility role in the context of a multifactorial model of PD. Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion

The PRIAMO study: age- and sex-related relationship between prodromal constipation and disease phenotype in early Parkinson's disease.

OBJECTIVES: To explore the impact of sex and age on relationship between prodromal constipation and disease phenotype in Parkinson's disease at early stages. METHODS: A total of 385 Parkinson's disease patients from the PRIAMO study were classified according to the presence of prodromal constipation and followed for 24 months. Multivariable mixed-effect models were applied. All analyses were performed separately for sex (64.1% men) and median age (different by sex: 67 years-old in men and 68 years-old in women). RESULTS: As for sex, prodromal constipation was associated with greater odds of attention/memory complaints and apathy symptoms in women only. As for age, prodromal constipation was associated with lower cognitive and higher apathy scores in older patients only. CONCLUSIONS: Prodromal constipation anticipates lower cognitive performances and more severe apathy since the earliest stages in women and older patients. Sex- and age-related heterogeneity of prodromal markers of Parkinson's disease may impact disease phenotype

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the “REGISTRY” cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis