An unusual delusion of duplication in a patient affected by Dementia with Lewy bodies

Background: Dementia with Lewy bodies (DLB) is the second most frequent diagnosis of progressive degenerative dementia in older people. Delusions are common features in DLB and, among them, Capgras syndrome represents the most frequent disturbance, characterized by the recurrent and transient belief that a familiar person, often a close family member or caregiver, has been replaced by an identical-looking imposter. However, other delusional conditions near to misidentification syndromes can occur in DLB patients and may represent a major psychiatric disorder, although rarely studied systematically. Case presentation: We reported on a female patient affected by DLB who presented with an unusual delusion of duplication. Referring to the female professional caregiver engaged by her relatives for her care, the patient constantly described the presence of two different female persons, with a disorder framed in the context of a delusion of duplication. A brain 99Tc-hexamethylpropyleneamineoxime SPECT was performed showing moderate hypoperfusion in both occipital lobes, and associated with marked decreased perfusion in parieto-fronto-temporal lobes bilaterally. Conclusions: An occipital hypoperfusion was identified, although in association with a marked global decrease of perfusion in the remaining lobes. The role of posterior lobes is certainly important in all misidentification syndromes where a natural dissociation between recognition and identification is present. Moreover, the concomitant presence of severe attentional and executive deficits evocative for a frontal syndrome and the marked global decrease of perfusion in the remaining lobes at the SPECT scan also suggest a possible dysfunction in an abnormal connectivity between anterior and posterior areas

Case Report Focal 123 I-FP-CIT SPECT Abnormality in Midbrain Vascular Parkinsonism

Cerebrovascular diseases are considered among possible causes of acute/subacute parkinsonism, representing up to 22% of secondary movement disorders. In cases of suspected vascular parkinsonism (VP), dopamine transporter SPECT has been highly recommended to exclude nigrostriatal dopaminergic degeneration. We report the case of a hemiparkinsonism related to a left midbrain infarct with focal lateralized putaminal abnormalities at 123 I-FP-CIT SPECT imaging. The asymmetric uptake at dopamine transporter SPECT was different to findings commonly observed in typical PD pattern, because the ipsilateral striatum, in opposite to idiopathic PD, showed normal tracer binding. However, this selective parkinsonism after infarction of the midbrain was responsive to levodopa. In conclusion, we retain that there is a need of more functional imaging studies in VP addressed to a more consistent classification of its different clinical forms and to a better understanding of the adequate pharmacological management

Metabolomics As a Tool for the Characterization of Drug-Resistant Epilepsy.

PURPOSE: Drug resistance is a critical issue in the treatment of epilepsy, contributing to clinical emergencies and increasing both serious social and economic burdens on the health system. The wide variety of potential drug combinations followed by often failed consecutive attempts to match drugs to an individual patient may mean that this treatment stage may last for years with suboptimal benefit to the patient. Given these challenges, it is valuable to explore the availability of new methodologies able to shorten the period of determining a rationale pharmacologic treatment. Metabolomics could provide such a tool to investigate possible markers of drug resistance in subjects with epilepsy. METHODS: Blood samples were collected from (1) controls (C) (n = 35), (2) patients with epilepsy "responder" (R) (n = 18), and (3) patients with epilepsy "non-responder" (NR) (n = 17) to the drug therapy. The samples were analyzed using nuclear magnetic resonance spectroscopy, followed by multivariate statistical analysis. KEY FINDINGS: A different metabolic profile based on metabolomics analysis of the serum was observed between C and patients with epilepsy and also between R and NR patients. It was possible to identify the discriminant metabolites for the three classes under investigation. Serum from patients with epilepsy were characterized by increased levels of 3-OH-butyrate, 2-OH-valerate, 2-OH-butyrate, acetoacetate, acetone, acetate, choline, alanine, glutamate, scyllo-inositol (C  R > NR). SIGNIFICANCE: In conclusion, metabolomics may represent an important tool for discovery of differences between subjects affected by epilepsy responding or resistant to therapies and for the study of its pathophysiology, optimizing the therapeutic resources and the quality of life of patients

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Clinical and molecular characterization of limb girdle muscular dystrophy due to LAMA2 mutations.

INTRODUCTION: In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations. METHODS: Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin \u3b12 genetic and protein testing. RESULTS: The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive functions and low IQ scores) were noted in 3 patients. Novel LAMA2 mutations were identified in all patients. The amount of laminin \u3b12 protein in the muscle biopsies ranged from trace to about 50% compared with controls. CONCLUSIONS: This study represents the largest series of LGMD laminin \u3b12-deficient patients and expands the clinical phenotype associated with LAMA2 mutations. The findings suggest that brain MRI could be included in the diagnostic work-up of patients with undiagnosed LGMD

Late-onset polyucosan body myopathy in five patients with a homozygous mutation in GYG1

International audienceFive Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset polyglucosan myopathy has prompted us to find new genetic defects in the gene (GYG1) encoding glycogenin-1, the crucial primer enzyme of glycogen synthesis in muscle.We found a single homozygous intronic mutation harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages

WIKIPLANTBASE: A COLLABORATIVE PLATFORM FOR FLORISTIC DATA. FIRST STEPS TOWARDS ITALIAN REGIONAL FLORAS ONLINE

Online databasing of plant diversity data became one of the major issues in biodiversity informatics in recent years. An increasing number of databases is now available concerning nomenclature and taxonomy, herbarium specimens, invasive alien plant monitoring, plant traits, ecology, vegetation, chromosome numbers, plant rDNA sites, genome size, DNA sequences. On the contrary, there are still few publicly available databases storing floristic data, especially at local level (1). Floristic records provide baseline data for researches in plant biology, linking a certain systematic unit to the localities where it is known to occur. Traditionally, printed floras are the “one-stop-shop” to find floristic data for a territory; unfortunately, printed floras are quickly outdated. Therefore, researchers must look for updated data in the scientific literature and herbarium specimens: the longer the time elapsed since the issue of the flora, the heavier the effort. In consideration of this, in 2013 we have started the project “Wikiplantbase #Toscana” (2) to provide a framework where the full set of georeferenced floristic records of Tuscany can be entered, stored, updated and freely accessed through the Internet. In few months, thousands of data accumulated and, and in summer 2014 we started to modify the platform to store floristic records also for Sardinia. As a result, since 17 November 2014, Wikiplantbase #Sardinia is available online (3), and recently both platforms were upgraded to version 2.0, allowing a wider set or search possibilities. As of 28 May 2015, Wikiplantbase #Toscana is storing 84149 floristic records, and Wikiplantbase #Sardegna 25000. Concerning the taxonomic coverage, for more than 90% of specific and subspecific taxa known for Tuscany there is at least one record available; while for Sardinia to a lesser extent, is still about 50%, but rapidly growing. The most recorded species are, so far: Pteridium aquilinum (L.) Kuhn subsp. aquilinum (Dennstaedtiaceae) for Tuscany (253 records from 161 different localities), and Pistacia lentiscus L. (Anacardiaceae) for Sardinia (292 records from 189 different localities). The platform’s design allows to store further regional records, so as to support a unified floristic database of the Italian Regions. With minor software tweaking, the online platform Wikiplantbase might be adopted in other contexts, resulting in a well connected network of regional floristic databases suited to exploit the involvement – still largely untapped – of non-academic collaborators, as advocated by citizen science