Abstract:
:Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic variant and a late-onset form usually presenting with muscle pain and mild fixed proximal weakness have been reported. We describe a 65-year-old man affected by muscle PFK deficiency who, since the age of 33, presented with exercise intolerance and myoglobinuria. Muscle biopsy showed a vacuolar myopathy with glycogen storage. The biochemical assay of PFK-M showed very low residual activity (6%). Genetic analysis of PFKM gene evidenced the presence of the heterozygote c.1817A>C (p.Asp543Ala) and c.488 G>A (p.Arg100Gln) pathogenic mutations. In his fifth decade, he started cyclosporine after liver transplantation for hepatocellular carcinoma and, then, amiodarone because of atrial fibrillation. In the following years, he developed a progressive and severe muscle weakness, mainly involving lower limbs, up to a loss of independent walking. Muscle MRI showed adipose substitution of both anterior and posterior thigh muscles with selective sparing of the medial compartment. Marked signs of adipose substitution were also documented in the legs with a selective replacement of gemelli and peroneus muscles. The temporal relationship between the patient's clinical worsening and chronic treatment with cyclosporine and amiodarone suggests an additive toxic damage by these two potentially myotoxic drugs determining such an unusually severe phenotype, also confirmed by muscle MRI findings.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Filosto M,Cotti Piccinelli S,Pichiecchio A,Musumeci O,Galvagni A,Caria F,Gallo Cassarino S,Baldelli E,Vitale R,Padovani A,Toscano Adoi
10.3389/fneur.2019.00077subject
Has Abstractpub_date
2019-02-07 00:00:00pages
77issn
1664-2295journal_volume
10pub_type
abstract::The aim of this study was to present a model that uses multi-parametric quantitative MRI to estimate the presence of myelin and edema in the brain. The model relates simultaneous measurement of R1 and R2 relaxation rates and proton density to four partial volume compartments, consisting of myelin partial volume, cellu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00016
更新日期:2016-02-17 00:00:00
abstract::Background and Objective: Parkinson disease (PD) with rapid eye movement (REM) sleep behavior disorder (PD-RBD) tend to be a distinct phenotype with more severe clinical characteristics and pathological lesion when compared with PD without RBD (PD-nRBD). However, the pathological mechanism underlying PD-RBD remains un...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.563624
更新日期:2020-10-27 00:00:00
abstract::Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced coenzyme Q to cytochrome C and thus, contributes to the formation of ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00944
更新日期:2019-09-04 00:00:00
abstract::Hyperbaric oxygen (HBO) therapy has been suggested a treatment option in order to reduce the development of secondary insults succeeding traumatic brain injury. This case report studied the course of a 23-year-old gentleman with a close range transhemispheric gunshot wound. The biochemical parameters, using a multi-mo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00062
更新日期:2015-03-23 00:00:00
abstract:BACKGROUND:Before implementation in clinical practice, biomarker assays need to be thoroughly analytically validated. There is currently a strong interest in implementation of the ratio of amyloid-β peptide 1-42 and 1-40 (Aβ42/Aβ40) in clinical routine. Therefore, in this study, we compared the analytical performance o...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00310
更新日期:2017-07-03 00:00:00
abstract::Obstructive sleep apnea (OSA) is recurrent obstruction of the upper airway during sleep leading to intermittent hypoxia (IH). OSA has been associated with all components of the metabolic syndrome as well as with non-alcoholic fatty liver disease (NAFLD). NAFLD is a common condition ranging in severity from uncomplicat...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00149
更新日期:2012-10-17 00:00:00
abstract::The most frequent neurodegenerative diseases (NDs) are Alzheimer's disease (AD), Parkinson's disease (PD), and frontotemporal lobar degeneration associated with protein TDP-43 (FTLD-TDP). Neuropathologically, NDs are characterized by abnormal intracellular and extra-cellular protein deposits and by disease-specific ne...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00042
更新日期:2011-07-11 00:00:00
abstract::Background: Magnetic resonance imaging is a key diagnostic and monitoring tool in multiple Sclerosis (MS). While the substrates of motor and neuropsychological symptoms in MS have been extensively investigated, nystagmus-associated imaging signatures are relatively under studied. Accordingly, the objective of this stu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00691
更新日期:2018-08-23 00:00:00
abstract::GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-intrafamilial phenotypic variability has been reported. Very-long-cha...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00514
更新日期:2020-06-23 00:00:00
abstract::Disrupted development of oropharyngeal structures as well as cranial nerve and brainstem circuits may lead to feeding and swallowing difficulties in children with 22q11. 2 deletion syndrome (22q11DS). We previously demonstrated aspiration-based dysphagia during early postnatal life in the LgDel mouse model of 22q11DS ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00004
更新日期:2020-01-31 00:00:00
abstract::Background: External ventricular drain (EVD) has a major role in the management and monitoring of intracranial pressure (ICP) and its major complication is EVD infection. The risk factors for EVD infection are still a major topic of controversy, hence the need for further research. Objective: The objective of this rev...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.00226
更新日期:2019-03-15 00:00:00
abstract::Stroke is becoming one of the leading causes of adult disability and death in sub-Saharan African countries. The aim of the present study is to provide an up-to-date account of the clinical and demographic characteristics of patients with stroke admitted to the University of Gondar College of Medicine and Health Scien...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00428
更新日期:2020-05-19 00:00:00
abstract:BACKGROUND:An estimated 30-50% of essential tremor (ET) diagnoses are incorrect, and the true diagnosis in those patients is often Parkinson's disease (PD) or other tremor disorders. There are general statements about the tremor in these ET and PD, but published data on the more subtle characteristics of tremor are sur...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00051
更新日期:2013-05-10 00:00:00
abstract::COVID-19 has rapidly become a pandemic emergency, distressing health systems in each affected country. COVID-19 determines the need for healthcare in a large number of people in an extremely short time and, like a tsunami wave, overruns emergency, infectious diseases, and pneumology departments as well as intensive ca...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00423
更新日期:2020-04-30 00:00:00
abstract::Functional magnetic resonance imaging studies suggest that different subcortico-cortical circuits control different aspects of Parkinsonian rest tremor. The basal ganglia were proposed to drive tremor onset, and the cerebellum was suggested to be responsible for tremor maintenance ("dimmer-switch" hypothesis). Althoug...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00145
更新日期:2019-03-07 00:00:00
abstract::The dopamine (DA) precursor l-DOPA has been the most effective treatment for Parkinson's disease (PD) for over 40 years. However, the response to this treatment changes with disease progression, and most patients develop dyskinesias (abnormal involuntary movements) and motor fluctuations within a few years of l-DOPA t...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2014.00242
更新日期:2014-12-15 00:00:00
abstract::Objective: The platelet-to-lymphocyte ratio (PLR) is a new marker of atherosclerotic inflammation and has been identified as a predictive factor in cardiovascular diseases, but its significance in patients with acute ischaemic stroke (AIS) who have undergone intravenous thrombolysis (IVT) is still unknown. Methods: Co...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01192
更新日期:2019-11-13 00:00:00
abstract::Objective: Lipohyalinosis or atherosclerosis might be responsible for single subcortical infarctions (SSIs); however, ways of differentiating between the two clinically remain uncertain. We aimed to investigate whether consecutive slides on axial view or transversal diameter is more effective to differentiate mechanis...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00336
更新日期:2019-04-09 00:00:00
abstract::Background: We hypothesized that right and left temporal lobe epilepsy (RTLE and LTLE, respectively) have distinctive spatial patterns of white matter (WM) changes that can be differentiated and interpreted with the use of multiple diffusion parameters. We compared the global microstructure of fiber bundles with regar...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00986
更新日期:2019-10-01 00:00:00
abstract::Objective: To investigate an MRI-based etiological classification for acute isolated pontine infarcts and to assess differences in vascular risk factors, clinical characteristics and WMH burden among the etiological subtypes. Methods: All participants from SMART cohort with DWI-proven acute isolated pontine infarcts (...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00840
更新日期:2018-10-09 00:00:00
abstract:OBJECTIVE:Evaluate medical students' communication and professionalism skills from the perspective of the ambulatory patient and later compare these skills in their first year of residency. METHODS:Students in third year neurology clerkship clinics see patients alone followed by a revisit with an attending neurologist...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00098
更新日期:2012-06-20 00:00:00
abstract:OBJECTIVES:Use of oral contraceptive pills (OCP) increases the risk of cerebral venous sinus thrombosis (CVST). Whether this risk varies by type, duration, and other forms of hormonal contraceptives is largely unknown. This systematic review and meta-analysis update the current state of knowledge. METHODS:We performed...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00007
更新日期:2015-02-02 00:00:00
abstract::The mechanisms involved in traumatic brain injury have yet to be fully characterized. One mechanism that, especially in high-energy trauma, could be of importance is cavitation. Cavitation can be described as a process of vaporization, bubble generation, and bubble implosion as a result of a decrease and subsequent in...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2016.00010
更新日期:2016-02-01 00:00:00
abstract::Attention impairment may provide a cohesive neurobiological explanation for clusters of clinical symptoms that occur after a concussion; therefore, objective quantification of attention is needed. Visually tracking a moving target is an attention-dependent sensorimotor function, and eye movement can be recorded easily...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00611
更新日期:2018-07-26 00:00:00
abstract::There is a need for biomarkers for amyotrophic lateral sclerosis (ALS), to support the diagnosis of the disease, to predict disease progression and to track disease activity and treatment responses. Over the last decade multiple studies have investigated the potential of neurofilament levels, both in cerebrospinal flu...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01167
更新日期:2019-01-18 00:00:00
abstract::A carotid-jugular fistula is a direct communication between the carotid artery and the jugular vein. Both congenital and spontaneous internal carotid-jugular fistulas are extremely rare. We describe the first case of successful endovascular treatment for a congenital internal carotid-jugular fistula. We report a 64-ye...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.01118
更新日期:2018-12-18 00:00:00
abstract::Hemiconvulsion-hemiplegia-epilepsy syndrome (HHES) is a subset of acute encephalopathy characterized by infantile-onset with acute hemiconvulsive febrile status and subsequent unilateral cerebral atrophy and hemiparesis. In the chronic phase, patients with HHES develop epilepsy, typically displayed as intractable foca...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.01233
更新日期:2019-11-20 00:00:00
abstract::Background: Data on clinical presentation of Hemiplegic Migraine (HM) are quite limited in the literature, particularly in the pediatric age. The aim of the present study is to describe in detail the phenotypic features at onset and during the first years of disease of sporadic (SHM) and familial (FHM) pediatric hemip...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01079
更新日期:2019-10-15 00:00:00
abstract::Annual cycles of physiology and behavior are highly prevalent in organisms inhabiting temperate and polar regions. Examples in mammals include changes in appetite and body fat composition, hibernation and torpor, growth of antlers, pelage and horns, and seasonal reproduction. The timing of these seasonal cycles reflec...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00079
更新日期:2017-03-10 00:00:00
abstract:BACKGROUND AND PURPOSE:The presence of aortic atherosclerosis is an independent risk factor for secondary stroke. The present study was designed to have an initial exploration of the correlation between the load and extent of aortic atheroma (AA) and initial stroke severity or clinical outcome 3 months after stroke. M...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2011.00018
更新日期:2011-03-21 00:00:00