72 research outputs found
Primo piano: Luca Mencacci. The Best Man. Le campagne elettorali viste da Hollywood
No full textIl cinema americano può essere letto attraverso le lenti della scienza politica. Lo mette in mostra il libro di L. Mencacci "The Best Man" sulle elezioni americane viste dal cinema hollywoodiano. Emerge la sua capacità di illustrare le categorie politiche volte ad illustrare i processi mediatico-culturali che determinano fatti ed eventi legati alle elezioni presidenziali. Connettendo cinema e politologia l'autore ci dà così un ampio quadro della scienza politica americana del XX secolo.American cinema can be read through the lenses of political science. The book by L. Mencacci "The Best Man" on the American elections seen by Hollywood cinema shows it. It emerges its ability to illustrate the political categories aimed at illustrating the media-cultural processes that determine events and events related to the presidential elections. By connecting cinema and political science, the author gives us a broad picture of 20th century American political science
Cortical pencil lining in neuroferritinopathy: A diagnostic clue
No full textNeurodegeneration with brain iron accumulation (NBIA) includes pantothenate kinase-associated neurodegeneration (PKAN, NBIA1), PLA2G6-associated neurodegeneration (PLAN, NBIA2), neuroferritinopathy, aceruloplasminemia, and MIN-associated neurodegeneration (MPAN).(1) Clinically, they can have similar presentation, with a combination of progressive extrapyramidal, cognitive, and bulbar features.(1) Since genetic testing is costly and not easily accessible, MRI clues, such as the eye of the tiger sign for PKAN,(2,3) are useful to guide the confirmatory genetic analyses. Herein, we describe a distinct imaging pattern of cortical iron deposition on susceptibility-weighted MRI (SWI) in genetically proven cases of neuroferritinopathy, which is not seen in genetically proven cases of PKAN or PLAN, the 2 most common forms of NBIA
Modificazioni dei livelli di Brain-Derived Neurotrophic Factor (BDNF) nel siero di pazienti affetti da Malattia di Huntington
No full textRecommended from our members
Naming Genes for Dystonia: DYT-z or Ditzy?
No full textDystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization’s plan for naming genetic loci for all disorders. For dystonia this involves a DYT prefix followed by a number (e.g., DYT1, DYT2, DYT3, etc.). A more recently proposed approach involves assigning multiple prefixes according to the main elements of the phenotype (e.g., DYT, PARK, CHOR, TREM, etc.) followed by the name of the responsible gene. This article describes these nomenclature systems and summarizes some of their limitations. We focus on dystonia as an example, although the concepts may be applied to all movement disorders
ADCY5 mutations are another cause of benign hereditary chorea
No full textOBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childhood-onset movement disorder, predominantly characterized by chorea and no other major neurologic features. ADCY5 analysis was performed by whole-exome sequencing or Sanger sequencing. ADCY5 and NKX2-1 expression during brain development and in the adult human brain was assessed using microarray analysis of postmortem brain tissue. RESULTS: The c.1252C>T; p.R418W mutation was identified in 2 cases (1 familial, 1 sporadic). The familial case inherited the mutation from the affected father, who had a much milder presentation, likely due to low-grade somatic mosaicism. The mutation was de novo in the sporadic case. The clinical presentation of these cases featured nonparoxysmal generalized chorea, as well as dystonia in the most severely affected, but no facial myokymia. We observed significant progression of symptoms in ADCY5 mutation carriers, in contrast to BHC secondary to NKX2-1 mutations. The difference in the clinical course is mirrored by the brain expression data, showing increasing ADCY5 expression in the striatum during brain development, whereas NKX2-1 shows an opposite trend. CONCLUSIONS: Our study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial myokymia, as a cause of familial and sporadic BHC. ADCY5 genetic analysis should be performed in cases with a benign choreiform movement disorder even in the absence of facial myokymia
<i>MED27</i> Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
No full textThe Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828-833.sponsorship: N.E.M. is supported by a Parkinson's Foundation grant. P.I. is supported by the Foundation for Pediatric Research. D.K. is supported by the Simpson Querrey Center for Neurogenetics. Biospecimens used in the analyses presented in this article were obtained from the Northwestern University Movement Disorders Center (MDC) Biorepository. As such, the investigators within MDC Biorepository contributed to the design and implementation of the MDC Biorepository and/or provided data and collected biospecimens but did not participate in the analysis or writing of this report. MDC Biorepository investigators include Tanya Simuni, MD; Dimitri Krainc, MD, PhD; Opal Puneet, MD, PhD; Cindy Zadikoff, MD; Onur Melen, MD; Danny Bega, MD; Roneil G. Malkani, MD; Steven Lubbe, PhD; Niccolo E. Mencacci, MD, PhD; Christina Zelano, PhD; Joanna Blackburn, MD; Firas Wehbe, MD, PhD; Lisa Kinsley, MS, CGC; and Tina Ward, MS. A gift from the Malkin family generously supported the work of the MDC Biorepository. J.R.L. is supported by a grant from the National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542); a National Institute of Neurological Disorders and Stroke grant (R35NS105078); and an Muscular Dystrophy Association grant (512848). T.M. is supported by the Uehara Memorial Foundation. D.M. is supported by a Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH (T32 GM007526-42). D.P. is supported by a Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation and Muscle Study Group, and the International Rett Syndrome Foundation (grant #3701-1). J.E.P. was supported by NHGRI K08 HG008986. (Parkinson's Foundation, Foundation for Pediatric Research, Simpson Querrey Center for Neurogenetics, MDC Biorepository, National Human Genome Research Institute (NHGRI), National Heart, Lung, and Blood Institute (NHLBI)|UM1 HG006542, National Institute of Neurological Disorders and Stroke grant|R35NS105078, Muscular Dystrophy Association|512848, Uehara Memorial Foundation, Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH|T32 GM007526-42, Clinical Research Training Scholarship in Neuromuscular Disease, International Rett Syndrome Foundation|3701-1, NHGRI|K08 HG008986, National Human Genome Research Institute|K08HG008986)status: Publishe
Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
No full textCorrection to: s41531-023-00526-9 npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below
- …
