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::Multiple sclerosis (MS) is a neurodegenerative disease characterized by lesions in the central nervous system (CNS). Inflammation and demyelination are the leading causes of neuronal death and brain lesions formation. The immune reactivity is believed to be essential in the neuronal damage in MS. Cytokines play import...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00781
更新日期:2019-07-18 00:00:00
abstract:INTRODUCTION:Core cerebrospinal fluid (CSF) biomarkers - Aβ42, Tau, and phosphorylated Tau (pTau) - have been recently incorporated in the revised criteria for Alzheimer's disease (AD). However, their widespread clinical application lacks standardization. Pre-analytical sample handling and storage play an important rol...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00153
更新日期:2015-07-08 00:00:00
abstract::Traumatic brain injury (TBI) is understood as an interplay between the initial injury, subsequent secondary injuries, and a complex host response all of which are highly heterogeneous. An understanding of the underlying biology suggests a number of windows where mechanistically inspired interventions could be targeted...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00450
更新日期:2017-08-30 00:00:00
abstract::Aim: The aim of the study was to investigate the effect of the onset of Parkinson's disease (PD) on life satisfaction. Method: Data from 2008, 2011, and 2014 were used from a population-based prospective cohort (German Ageing Survey; 8,982 observations in FE regression analysis) of community-residing individuals in th...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00589
更新日期:2018-07-25 00:00:00
abstract::Introduction: Persons with MS (PwMS) have markedly reduced push-off and toe-clearance during gait compared to healthy subjects (HS). These deficits may result from alterations in neuromotor control at the ankle. To optimize rehabilitation interventions for PwMS, a crucial step is to evaluate if and how altered neuromo...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00668
更新日期:2020-07-24 00:00:00
abstract::Introduction: The purpose of this study was to verify whether the prevalence of intracranial aneurysm (IA) in patients with acoustic neuroma is greater than that in age- and sex-matched controls and to evaluate the independent risk factors related to the occurrence of IA. Methods: We retrospectively analyzed 231 patie...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.591526
更新日期:2020-11-02 00:00:00
abstract::Carpal tunnel syndrome (CTS) is a disorder of the wrist due to narrowing of the carpal tunnel. It can be caused by trauma or tumors in the tunnel resulting in compression of the median nerve. This disorder is often diagnosed with early symptoms such as tingling, numbness, and weakness that subsequently lead to hand mu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00888
更新日期:2019-08-26 00:00:00
abstract::We previously identified a distinct mutation pattern in the antibody genes of B cells isolated from cerebrospinal fluid (CSF) that can identify patients who have relapsing-remitting multiple sclerosis (RRMS) and patients with clinically isolated syndromes who will convert to RRMS. This antibody gene signature (AGS) wa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00166
更新日期:2014-09-16 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: Palliative care in Parkinson's Disease (PD) patients considerably differs from palliative care in oncology patients. Integrated care models are a concept to support patients and improve management of PD symptoms. However, it is not known if the access to PD patients at the end of life can be achieved throu...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00627
更新日期:2018-07-30 00:00:00
abstract::Background/Objective: Stroke is a leading global cause of adult disability. As the population ages as well as suffers co-morbidities, it is expected that the stroke burden will increase further. There are no established safe and effective restorative treatments to facilitate a good functional outcome in stroke patient...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00235
更新日期:2019-03-26 00:00:00
abstract::Background: Transcranial direct current stimulation (tDCS) and therapy-based virtual reality (VR) have been investigated separately. They have shown promise as efficient and engaging new tools in the neurological rehabilitation of individuals with cerebral palsy (CP). However, the recent literature encourages investig...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00953
更新日期:2020-09-02 00:00:00
abstract::Background/Aims: High intracranial pressure (ICP) is associated with changes in peripapillary Bruch's membrane (pBM) shape on optical coherence tomography (OCT) images of the optic nerve head. It is not known if image acquisition pattern and analysis method impact this association. Materials and Methods: Cross section...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01137
更新日期:2018-12-21 00:00:00
abstract::Background: The leading cause of death in China is stroke, a condition that also contributes heavily to the disease burden. Nontraumatic intracerebral hemorrhage (ICH) is the second most common cause of stroke. Compared to Western countries, in China the proportion of ICH is significantly higher. Standardized treatmen...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01091
更新日期:2018-12-11 00:00:00
abstract::Sleep complaints increase profoundly with age; prevalence estimates of insomnia in the elderly reach up to 37%. The three major types of nocturnal complaints are difficulties initiating (DIS) and maintaining (DMS) sleep and early morning awakening (EMA), of which the latter appears most characteristic for aging. The n...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00105
更新日期:2012-06-28 00:00:00
abstract:OBJECTIVES:Stroke can happen to people away from home. It is unknown whether non-resident and resident stroke patients have equal access to thrombolysis. MATERIALS AND METHODS:Consecutive patients cared for by the Stroke Emergency Mobile between 2011 and 2016 after prompting suspicion of acute stroke during the emerge...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00319
更新日期:2017-06-30 00:00:00
abstract::Objective: The aim of the present observational study is to report on the data from a large sample of inpatients, clinical staff and other workers at an Italian neurorehabilitation hospital dealing with SARS-CoV-2 infections, in order to analyze how it might have affected the management and the effectiveness of neuror...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.584317
更新日期:2020-10-09 00:00:00
abstract::Hemorrhagic cerebrovascular disease in the pediatric population can have devastating and long-term effects. Progress in the fields of genetics, neuroimaging, pharmacology, and surgical techniques has led to improved diagnosis and management of pediatric cerebrovascular diseases. In this review we discuss the current e...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.01055
更新日期:2020-09-17 00:00:00
abstract::Background: The bidirectional interaction between the gut and brain after stroke through the immune-mediated pathway has been studied. However, the long-term effects of gut microbiota and systemic immune homeostasis after cerebral ischemia remain unclear. We examined long-term changes in the gut microbiota and systemi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00661
更新日期:2019-06-28 00:00:00
abstract::Objective: To assess the relation between a sum score of imaging markers indicative of cerebral amyloid angiopathy (CAA) and cognitive impairment, stroke, dementia, and mortality in a general population. Methods: One thousand six hundred twenty-two stroke-free and dementia-free participants of the population-based Rot...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01276
更新日期:2019-12-06 00:00:00
abstract::Neuroinflammation is one of the most important processes involved in the pathogenesis of Parkinson's disease (PD). The current concept of neuroinflammation comprises an inflammation process, which occurs in the central nervous system due to molecules released from brain-resident and/or blood-derived immune cells. Furt...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00860
更新日期:2018-10-15 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:Unlike many other central nervous system (CNS) tumors, the surgical management of primary central nervous system lymphomas (PCNSL) is traditionally limited by diagnostic biopsy. Studies that predate the use of modern neurosurgical techniques have reported a prohibitive operative morbidity for this surgery. T...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00478
更新日期:2017-09-12 00:00:00
abstract:BACKGROUND:To evaluate the efficacy and tolerability of a clonidine transdermal patch in the treatment of children with tic disorders (TD) and to establish a predictive model for patients. METHODS:Forty-one patients who met the inclusion criteria entered into 12 weeks of prospective, open, single-group, self-controlle...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00032
更新日期:2017-02-23 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::Introduction: People with stroke often have impaired stepping responses following balance perturbations, which increases their risk of falling. Computer-controlled movable platforms are promising tools for delivering perturbation-based balance training under safe and standardized circumstances. Purpose: This proof-of-...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00980
更新日期:2018-11-22 00:00:00
abstract::Objective: To investigate the hemodynamic features before and after embolization of paraclinoidal aneurysms using hemodynamic numerical simulation and the influence of embolization on recurrence after embolization. Methods: From January 2016 to December 2017, we enrolled a total of 113 paraclinoidal aneurysms treated ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00429
更新日期:2019-04-25 00:00:00
abstract::A hand exoskeleton driven by myoelectric pattern recognition was designed for stroke rehabilitation. It detects and recognizes the user's motion intent based on electromyography (EMG) signals, and then helps the user to accomplish hand motions in real time. The hand exoskeleton can perform six kinds of motions, includ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2017.00107
更新日期:2017-03-20 00:00:00
abstract::Recent studies have demonstrated that exosomal microRNAs (miRNAs) are novel biomarkers and therapeutic targets for various diseases including vascular disease. However, specific exosomal miRNAs expression in stroke patients has not been reported yet. Here, we explored whether circulating exosomal miRNAs can serve as p...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00057
更新日期:2017-02-27 00:00:00
abstract::Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. Methods: We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 and 2...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.01049
更新日期:2019-10-04 00:00:00