نتایج جستجو برای: hallervorden
تعداد نتایج: 273 فیلتر نتایج به سال:
Pigmented purpuric dermatoses are chronic and relapsing disorders characterized by a symmetrical rash of petechial and pigmentary macules, mainly confined to the lower limbs. Purpura annularis telangiectodes of Majocchi is a less common variant of Pigmented purpuric dermatoses characterized by punctate telangiectatic macules progressing to annular, hyperpigmented patches with central clearing a...
Polyglutamine (polyQ) stretches exceeding a threshold length confer a toxic function to proteins that contain them and cause at least nine neurological disorders. The basis for this toxicity threshold is unclear. Although polyQ expansions render proteins prone to aggregate into inclusion bodies, this may be a neuronal coping response to more toxic forms of polyQ. The exact structure of these mo...
Pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome) is a rare but devastating neurodegenerative disorder, resulting from an inherited defect in coenzyme A biosynthesis. As pathology in the human condition is limited to the central nervous system, specifically the retina and globus pallidus, we have generated a mouse knock-out of the orthologous...
We report here an autopsy case of sporadic adult-onset Hallervorden-Spatz syndrome, also known as neurodegeneration with brain iron accumulation type 1 (NBIA1), without hereditary burden. A 49-year-old woman died after a 27-year disease course. At the age of 22, she suffered from akinesia, resting tremor, and rigidity. At the age of 28, she was admitted to our hospital because of worsening park...
Trace elements unquestionably play an important part in relation to the physiology and pathology of the central nervous system. It is well known that in Wilson’s disease copper is accumulated in the brain [ 1,2]. Neurologists are not yet agreed whether or not Hallervorden-Spatz disease, another neurological disease, is accompanied with an increase of iron in some parts of the nervous system [1,...
Dense symmetrical calcification of the corpus striatum is rare, but of some general interest for two reasons. First, in a significant number of the reported cases this apparently degenerative condition is closely linked with a metabolic disorder, hypoparathyroidism, which may be idiopathic, parathyroprivic, or of the variety in which the parathyroid glands are histologically normal but the body...
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...
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