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The purpose of this study is to develop small molecule radio-labeled probes of beta-amyloid, to be used with positron emission tomography (PET) for early detection and treatment monitoring of Alzheimer disease (AD). The study hypothesis is that PET imaging of small molecule probes, in the form of novel fluorescent dyes with radioactive labels, will demonstrate cerebral patterns in patients with AD that are distinct from those of age-matched persons who are cognitively intact.
This is a naturalistic study in which clinical evaluations and brain scans will be performed on 20 people with Down syndrome (DS) as well as 20 healthy controls across a range of ages. Participants will receive comprehensive clinical and neuropsychological assessments. PET and MRI scans will be performed at baseline and after two years of follow up. All participants will have blood drawn for APOE genotyping during their baseline evaluations. The intellectual range of participants with DS will be restricted to IQ scores of 45 to 60 (moderate range) to reduce variability, particularly due to extreme low levels of intellectual ability.
Observational Model: Case Control, Time Perspective: Prospective
National Institute on Aging (NIA)
Published on BioPortfolio: 2014-08-27T03:19:45-0400
The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down ...
To evaluate the prevalence of metabolic syndrome in HIV-infected patients with previous evaluation of lipodystrophy syndrome, according to the severity of fat accumulation and antiretrovir...
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome(ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh ...
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Tre...
Essentially, preexcitation syndrome is the presence of an accessory pathway in the heart, which can lead to serious consequences, ranging from atrioventricular reentrant tachycardia to sudden cardiac ...
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological ...
Augmentation syndrome is one of the most severe complications of RLS. It is characterised by a worsening of treated symptoms; principally an increase in the severity of symptoms and an earlier onset t...
Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syn...
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom.
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase 'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...