نتایج جستجو برای: spatz syndrome
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BACKGROUND AND OBJECTIVE Patients with a clinical diagnosis of neurodegeneration with brain iron accumulation (NBIA, formerly called Hallervorden-Spatz syndrome) often have mutations in PANK2, the gene encoding pantothenate kinase 2. We investigated correlations between brain MR imaging changes, mutation status, and clinical disease features. METHODS Brain MRIs from patients with NBIA were re...
We report a case of pantothenate kinase-associated neurodegeneration with increased regional cerebral blood flow (rCBF) in bilateral lentiform nuclei on technetium Tc-99m ethyl cysteinate dimer single-photon emission CT (ECD-SPECT). A 6-year-old boy presented with opisthotonus. T2*-weighted MR images revealed areas of marked hypointensity with a hyperintense focus in bilateral globus pallidus, ...
In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease (AD) patients. CSF levels of NFL, NFHp35, t-tau, and GFAP of 23 sCJD patients and 55 AD patients we...
Polyglutamylation is a posttranslational modification that generates glutamate side chains on tubulins and other proteins. Although this modification has been shown to be reversible, little is known about the enzymes catalyzing deglutamylation. Here we describe the enzymatic mechanism of protein deglutamylation by members of the cytosolic carboxypeptidase (CCP) family. Three enzymes (CCP1, CCP4...
In idiopathic Parkinson's disease (PD), a generalized Lewy body type-degeneration in the brain as well as extracranial organs was identified. It is unclear, whether cerebral and extracranial Lewy body type-degeneration in PD are coupled or not. To address this question, cerebral [(123)I]FP-CIT SPECT - to quantify cerebral nigrostriatal dopaminergic degeneration - and myocardial [(123)I]MIBG sci...
Pantothenate kinase-associated neurodegeneration (PKAN is a neurodegenerative disease with unresolved pathophysiology. Previously, we observed reduced Coenzyme A levels in a Drosophila model for PKAN. Coenzyme A is required for acetyl-Coenzyme A synthesis and acyl groups from the latter are transferred to lysine residues of proteins, in a reaction regulated by acetyltransferases. The tight bala...
Multiple sclerosis (MS) is a pathologically complex CNS disease: inflammation, demyelination, and neuroaxonal degeneration occur concurrently and may depend on one another. Current therapies are aimed at the immune-mediated, inflammatory destruction of myelin, whereas axonal degeneration is ongoing and not specifically targeted. Diffusion-weighted magnetic resonance spectroscopy can measure the...
Introdução: A Síndrome de Hallervorden-Spatz é uma rara doença neurodegenerativa, autossômica recessiva, com alterações características do piramidalismo e extrapiramidalismo, além distúrbios emocionais, sendo o diagnóstico caracterizado pela presença sinal olho tigre, encontrado na ressonância magnética. Objetivo: Descrever efeito da intervenção treinamento físico por meio um estudo caso. O pro...
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