Abstract：
:Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued. This case series describes extended follow-up of three FRDA cases with end-stage heart failure but mild neurologic disease who underwent successful heart transplantation. We also review and examine the ethical considerations for heart transplantation in the setting of neurodegenerative disease.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
McCormick A,Shinnick J,Schadt K,Rodriguez R,Addonizio L,Hirano M,Perlman S,Lin KY,Lynch DRdoi
10.1016/j.jns.2017.01.027subject
Has Abstractpub_date
2017-04-15 00:00:00pages
471-473eissn
0022-510Xissn
1878-5883pii
S0022-510X(17)30028-Xjournal_volume
375pub_type
杂志文章abstract：:Support for the hypothesis that biogenic amines are involved in the production of muscle diseases comes from a report that rat muscle is damaged by combining distal aortic ligation with serotonin injection. Our studies explore the role of serotonin in the production of the myopathic changes in the aortic ligation-sero...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90005-4
更新日期：1979-01-01 00:00:00
abstract：:This is a case report of PCR proven herpes simplex (HSV-1) encephalitis in a 26 years old immunocompetent adult taking an unusual course of acute intracerebral haematoma after successful and complete recovery with acyclovir therapy. This transient late complication was associated with a negative repeat CSF PCR for HSV...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.10.020
更新日期：2007-01-31 00:00:00
abstract：:We measured the CSF and plasma levels of glutamate, glutamine, aspartate (only in plasma), asparagine, glutamine, glycine and GABA in 31 patients with Parkinson's disease and in 45 matched controls. We used an ion-exchange chromatography method. When compared to controls, PD patients had similar CSF levels of glutamat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)00115-3
更新日期：1996-09-15 00:00:00
abstract：:Outcome after aSAH depends on several factors, including the severity of the initial event, perioperative medical management, surgical variables, and the incidence of complications. Cerebral vasospasm (CV) is ure to consistently respond to treatment, emphasizing the need for further research into the underlying mechan...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.04.046
更新日期：2007-10-15 00:00:00
abstract：OBJECTIVE:HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) can progress slowly or rapidly even though a set of symptoms such as spastic paraparesis with pathological reflexes and sweating loss of the lower extremities are commonly observed in patients. Although most of the patients are thought to be ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.10.030
更新日期：2016-12-15 00:00:00
abstract：:Antibodies against LGI1 (leucin-rich glioma-inactivated 1 protein) are associated with limbic encephalitis (LE), which is characterized by a favorable outcome following immunotherapy. Here, we present two cases, where antibodies against LGI1 were detected in the sera 36 and 53 months after acute LE, respectively, and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.05.048
更新日期：2014-08-15 00:00:00
abstract：BACKGROUND:Ifosfamide is an alkylating agent useful in the treatment of a wide range of cancers including sarcomas, lymphoma, gynecologic and testicular cancers. Encephalopathy has been reported in 10-40% of patients receiving high-dose IV ifosfamide. OBJECTIVE:To highlight the role of electroencephalogram (EEG) in th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.10.018
更新日期：2014-01-15 00:00:00
abstract：:Intergenerational stability of the CAG repeat number has been considered to be a specific molecular feature of SCA6 compared with other CAG repeat diseases. Nevertheless, we showed meiotic instability of the CAG repeats in the SCA6/CACNL1A gene in two Japanese SCA6 families, including de novo expansion. In one family,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00466-x
更新日期：2001-04-01 00:00:00
abstract：:Diabetic nerve reveals a peculiar paradox between its physiological resistance to ischemia, in conducting impulses for longer than control nerve during ischemia, and its morphological liability to more severe pathological changes of nerve fiber when rendered ischemic. These paradoxical phenomena, however, have never b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90129-m
更新日期：1993-11-01 00:00:00
abstract：INTRODUCTION:Controversy persists on the best treatment to control ocular myasthenia gravis (OMG) and reduce conversion to generalized myasthenia gravis (GMG). We hypothesized that low dose prednisone could accomplish both in a cohort of OMG patients followed after three years. METHODS:We reviewed the records of 168 p...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117274
更新日期：2021-01-15 00:00:00
abstract：:The product of the permeability x vascular surface rate area (PA) of the blood-brain barrier to [14C]sucrose has been measured in rats raised on synthetic diets in which the saturated/unsaturated fat constitution was controlled at high or low levels. Gas-liquid chromatography demonstrated marked differences in brain f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(82)90188-5
更新日期：1982-05-01 00:00:00
abstract：:Despite availability of harmonized criteria for the investigation of patients with presumed "vascular cognitive impairment (VCI)" there exists no clear definition of VCI. The challenge lies in the definition of those vascular components being responsible for the cognitive-behavioural decline of elderly patients. We ad...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.031
更新日期：2010-12-15 00:00:00
abstract：:Coronal images of position emission tomography (PET) by 18F-labelled deoxyglucose reconstructed from interpolated scan in Alzheimer's disease clearly indicated suppression of glucose metabolism in the parietal lobe and lateral part of the temporal lobes, compared to normal controls. The medial part of the temporal lob...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90249-7
更新日期：1991-12-01 00:00:00
abstract：:Fatigue is a common symptom in patients with neurologic disease. Mechanisms of fatigue are still incompletely understood. In this paper, we review recent studies of fatigue in common neurologic conditions and discuss therapeutic interventions. In particular, the role of therapeutic exercise is examined in both health ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2005.11.012
更新日期：2006-03-15 00:00:00
abstract：:With the publication of a patient with severe exercise intolerance, in whom the mutated mtDNA in muscle was shown to be paternally inherited, the strict maternal inheritance of mtDNA was challenged. Paternal mtDNA inheritance may have gone unrecognized in cases of mitochondrial disease with no clear maternal pattern o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.11.008
更新日期：2004-03-15 00:00:00
abstract：:We assessed the relationship between gray matter (GM) and white matter (WM) atrophy and clinical status in early relapsing-remitting multiple sclerosis (MS) patients over 5 years. A group of 181 patients who participated in the ASA (Avonex-Steroid-Azathioprine) study and had complete clinical and MRI assessments over ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.jns.2008.12.005
更新日期：2009-07-15 00:00:00
abstract：:Interaction of the orexinergic (ORXergic) neuronal system with the excitatory (glutamate, l-Glu) or the inhibitory (GABA) neurosignaling complexes evokes major homeostatic physiological events. In this study, effects of the two ORXergic neuropeptides (ORX-A/B) on their receptor (ORX-2R) expression changes were correla...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.02.030
更新日期：2015-04-15 00:00:00
abstract：:Peripheral blood lymphocytes from patients with multiple sclerosis (MS), other neurological diseases and healthy controls were investigated for the presence of cell-mediated hypersensitivity to brain gangliosides and myelin basic protein using an active E-rosette assay. Sensitivity to myelin basic protein and ganglios...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90083-7
更新日期：1983-04-01 00:00:00
abstract：:We herein report a 12-year-old girl with a basal ganglia germinoma who presented with right-sided hemiparesis after a minor head trauma. Magnetic resonance (MR) imaging revealed a minimally enhanced lesion involving the left putamen, thalamus, and corona radiata. The lesion showed low-signal intensity on T1-, and high...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.02.006
更新日期：2008-07-15 00:00:00
abstract：:We have previously reported reduced ability of ALS fibroblasts to repair genomic DNA damage produced by alkylating agents. This report presents our experience of studying DNA repair in lymphocytes from ALS patients. The repair of N-methylpurines produced by treatment with the alkylating agent, methyl methanesulfonate,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90225-n
更新日期：1993-04-01 00:00:00
abstract：INTRODUCTION:Magnetization transfer ratio (MTR) histogram analysis can be used as a method for quantifying overall disease burden in MS. We studied correlations between MTR histogram and clinical parameters in MS subgroups. Contrary to earlier studies we placed special emphasis on the lower MTR range, to explore the ef...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00431-2
更新日期：2001-03-01 00:00:00
abstract：:Fast and slow components of anterograde axoplasmic transport have been studied in the sensory fibres of the vagus nerve of alloxan-diabetic rabbits and age-matched controls by incorporation of tritiated leucine into nodose ganglion cells. The diabetic rabbits were maintained for 2 months with blood glucose levels in t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90089-1
更新日期：1980-09-01 00:00:00
abstract：OBJECTIVE:To determine the sensitivity and specificity of clonal immunoglobulin heavy chain gene rearrangement (IGHR) analysis in the distinction of benign and malignant lymphoproliferative diseases. METHODS:A retrospective analysis was conducted of patients in whom a malignant lymphoproliferative process was suspecte...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.044
更新日期：2006-09-25 00:00:00
abstract：:gamma-Glutamyl transpeptidase, a membrane-bound enzyme playing an important role in the active amino acid transport across cellular membranes, is shown to be elevated in the serum of patients with myotonic muscular dystrophy. No increase of AP, LAP, GOT and GPT activities in the sera of some of the patients studied is...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90105-2
更新日期：1976-06-01 00:00:00
abstract：:We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was det...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.05.003
更新日期：2012-08-15 00:00:00
abstract：OBJECTIVE:To study the impact of Guillain-Barré Syndrome (GBS) on the psychosocial functioning of the closest relative and on family functioning during the first year after GBS. METHOD:At 1 (=T1), 3 (=T3), 6 (=T6), and 12 months (=T12) after the onset of GBS, relatives of patients received the General Health Questionn...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.01.002
更新日期：2006-05-15 00:00:00
abstract：:Primary adult-onset dystonia is thought to be partly genetic, but families large enough for a genome wide search are difficult to find. We examined the first-degree relatives of 76 primary adult-onset dystonia patients to assess the feasibility of model-free nonparametric methods that allow either screening of candida...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.08.009
更新日期：2006-12-21 00:00:00
abstract：BACKGROUNDS:Although prevention of hematoma enlargement and thromboembolic complications is critically important in acute intracerebral hemorrhage (ICH) patients with prosthetic heart valves, clinical data are scarce. The goal of this study was to elucidate patient characteristics, acute treatments, and the clinical co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.02.033
更新日期：2016-04-15 00:00:00
abstract：:Systemic inflammatory response syndrome (SIRS) is a medical condition in which the all-organ microcirculation is affected including nervous system. We describe neurological findings in 64 patients with SIRS at Hospital das Clínicas of Sao Paulo University School of Medicine; 45.3% were male and 54.7% female; their age...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.08.015
更新日期：2006-12-01 00:00:00
abstract：OBJECTIVE:Physical fitness is an important correlate of structural and functional integrity of the brain in healthy adults. In heart failure (HF) patients, poor physical fitness may contribute to cognitive dysfunction and we examined the unique contribution of physical fitness to brain structural integrity among patien...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.02.015
更新日期：2013-05-15 00:00:00
