scholarly journals POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

2020 ◽  
Vol 10 (11) ◽  
pp. 768
Author(s):  
Nicola Specchio ◽  
Nicola Pietrafusa ◽  
Costanza Calabrese ◽  
Marina Trivisano ◽  
Chiara Pepi ◽  
...  
Keyword(s):  
Age At Onset ◽  
Gene Mutations ◽  
Brain Magnetic Resonance Imaging ◽  
Systematic Research ◽  
Seizure Type ◽  
Therapeutic Approaches ◽  
Polymerase Gamma ◽  
Low Levels ◽  
Magnetic Resonance Imaging Mri ◽  
Polg1 Mutation

Background: The clinical spectrum associated with POLG1 gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders. Our aim was to review diagnostic findings, therapeutic approaches and outcomes of reported cases of epilepsy related to POLG1 mutation. Methods: The articles for review were identified through a systematic research on PubMed and EMBASE databases from January 2003 to April 2020, searching for the terms “Epilepsy AND POLG OR polymerase gamma,” OR “POLG1”. Results: Forty-eight articles were selected for review, which included 195 patients. Two main peaks of age at epilepsy onset were found: at ages 1 and 13 years. The most frequent seizure type was myoclonic. The occurrence of Status Epilepticus was reported in 46.4% of cases. Epileptiform and slow abnormalities were most frequently seen over occipital regions. Brain Magnetic Resonance Imaging (MRI) revealed increased T2 signal intensities in thalamic regions. Genetic analysis revealed a prevalence of A467T, W748S and G848S (74.2% of patients) mutations. Survival at 5 years was estimated at very low levels (30.2% of patients). Conclusion: In this review, we included cases with both pediatric and adult epilepsy onset. The analysis of data regarding prognosis showed that survival is related to age at onset of epilepsy.

Paroxysmal kinesigenic dyskinesia–like phenotype in multiple sclerosis

2017 ◽  
Vol 23 (13) ◽  
pp. 1795-1797 ◽  
Author(s):  
Roxana Pop ◽  
Stefan Kipfer
Keyword(s):  
Multiple Sclerosis ◽  
Gene Mutations ◽  
Brain Magnetic Resonance Imaging ◽  
Acute Onset ◽  
Intravenous Steroid ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Hyperkinetic Movement Disorder ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Rapid Regression

In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months. PKD is characterized by recurrent uni- or bilateral choreoathetosis and usually represents an autosomal dominant inherited disorder caused by PRRT2 gene mutations. As in the present case, a PKD-like phenotype may be associated with MS relapses in presumably genetic negative cases.

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat
Keyword(s):  
Gene Mutations ◽  
Febrile Illness ◽  
Flaccid Paralysis ◽  
Thiamine Pyrophosphate ◽  
Homozygous Mutation ◽  
Missense Variation ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Generation Sequencing ◽  
Striatal Necrosis

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

scholarly journals Identifying a Common Functional Framework for Apathy Large-Scale Brain Network

2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Network ◽  
Neural Pathways ◽  
Resonance Imaging ◽  
Daily Life Activities ◽  
Functional Differences ◽  
Central Gyrus ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Specific

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.

scholarly journals The majority of natalizumab-treated MS patients have high natalizumab concentrations at time of re-dosing

2017 ◽  
Vol 24 (6) ◽  
pp. 805-810 ◽  
Author(s):  
Zoé LE van Kempen ◽  
Cyra E Leurs ◽  
Birgit I Witte ◽  
Annick de Vries ◽  
Mike P Wattjes ◽  
...  
Keyword(s):  
Body Weight ◽  
Disease Activity ◽  
Brain Magnetic Resonance Imaging ◽  
Serum Concentrations ◽  
Duration Of Treatment ◽  
Treatment Regimens ◽  
Trough Serum ◽  
Natalizumab Treatment ◽  
Magnetic Resonance Imaging Mri ◽  
Relapsing Remitting Multiple Sclerosis

Background: Natalizumab is efficacious in the treatment of relapsing-remitting multiple sclerosis. All patients receive the same treatment regimen of 300 mg every 4 weeks, despite differences in pharmacokinetics between individual patients. Objective: To give neurologists insight into natalizumab concentrations at time of re-dosing, we investigated longitudinal natalizumab concentrations in 80 patients in relation to disease activity, with possible influencing factors. Methods: In a prospective observational cohort study, natalizumab trough serum concentrations were measured in 80 patients. Data on demographics, duration of treatment, Expanded Disability Status Scale, clinical exacerbations, brain magnetic resonance imaging (MRI), and body weight were collected. Results: We measured high (≥10 µg/mL) natalizumab trough concentrations in 94% of patients. Intra-individual concentrations were stable. The spread in concentrations was substantial and did not correlate with disease activity. We found a negative association between natalizumab concentration and body weight (β = −0.30, p = 0.010). Interpretation: The majority of patients showed high natalizumab serum concentrations at time of re-dosing. Alternative treatment regimens could lead to more efficient use of natalizumab, but caution is warranted regarding the possibility of recurrence of disease activity. Prospective clinical trials are needed to establish the safety of extended dose intervals in natalizumab treatment.

Pediatric Reversible Cerebral Vasoconstriction Syndrome: Two Unique Cases with a Review of all Reported Children

2021 ◽  
Author(s):  
Neelu Desai ◽  
Rahul Badheka ◽  
Nitin Shah ◽  
Vrajesh Udani
Keyword(s):  
Magnetic Resonance ◽  
Cerebral Arteries ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Reversible Cerebral Vasoconstriction Syndrome ◽  
Neurological Deficits ◽  
Cerebral Vasoconstriction ◽  
Magnetic Resonance Imaging Mri ◽  
Reversible Encephalopathy ◽  
Mr Angiogram

AbstractReversible cerebral vasoconstriction syndrome (RCVS) has been well described in adults, but pediatric cases are yet under recognized. We describe two children with RCVS and review similar already published pediatric cases. The first patient was a 10-year-old girl who presented with severe headaches and seizures 3 days after blood transfusion. Brain magnetic resonance imaging (MRI) showed changes compatible with posterior reversible encephalopathy syndrome and subarachnoid hemorrhage. Magnetic resonance angiogram showed diffuse vasoconstriction of multiple cerebral arteries. The second patient was a 9-year-old boy who presented with severe thunderclap headaches. Brain MRI showed isolated intraventricular hemorrhage. Computed tomography/MR angiogram and digital subtraction angiogram were normal. A week later, he developed focal neurological deficits. Repeated MR angiogram showed diffuse vasospasm of multiple intracranial arteries. Both children recovered completely. A clinico-radiological review of previously reported childhood RCVS is provided.

De novo convulsive status epilepticus in patients with multiple sclerosis treated with dalfampridine

2018 ◽  
Vol 25 (4) ◽  
pp. 618-621 ◽  
Author(s):  
Emilie Panicucci ◽  
Mikael Cohen ◽  
Veronique Bourg ◽  
Fanny Rocher ◽  
Pierre Thomas ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Status Epilepticus ◽  
De Novo ◽  
Case Reports ◽  
Brain Magnetic Resonance Imaging ◽  
Convulsive Status Epilepticus ◽  
Biological Tests ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
History Of Epilepsy

Background: Dalfampridine extended release (DAL) is a broad-spectrum voltage-gated potassium channel blocker that is indicated in multiple sclerosis to improve the nerve conduction of demyelinated axons. Seizures are a known side effect of DAL, which is contraindicated in patients with a history of epilepsy. Objective: Three cases of multiple sclerosis (MS) with de novo convulsive status epilepticus (CSE) probably related to dalfampridine administration are described. Methods: No patients had a history of seizures or renal impairment. Biological tests were normal. A brain magnetic resonance imaging (MRI) showed diffuse cortical and subcortical atrophy without active inflammatory lesions. Results: All three patients presented with CSE that was attributed to DAL and so was discontinued. Conclusion: These case reports illustrate that, aside from seizures, de novo CSE is a potential complication of MS patients treated with DAL.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Case Series ◽  
Brain Magnetic Resonance Imaging ◽  
Propionic Acidemia ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Epileptiform Discharges ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Recessive Manner ◽  
Delayed Myelination

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.

Therapeutic Hypothermia in Brazil: A MultiProfessional National Survey

2018 ◽  
Vol 36 (11) ◽  
pp. 1150-1156 ◽  
Author(s):  
G. F. Variane ◽  
L. M. Cunha ◽  
P. Pinto ◽  
P. Brandao ◽  
R. S. Mascaretti ◽  
...  
Keyword(s):  
Therapeutic Hypothermia ◽  
National Survey ◽  
Health Care Professionals ◽  
Brain Magnetic Resonance Imaging ◽  
Significant Heterogeneity ◽  
Online Questionnaire ◽  
Cross Sectional ◽  
Long Term Follow Up ◽  
Magnetic Resonance Imaging Mri

Objective To determine the rate of therapeutic hypothermia (TH) use, current practices, and long-term follow-up. Study Design Prospective cross-sectional national survey with 19 questions related to the assessment of hypoxic–ischemic encephalopathy (HIE) and TH practices. An online questionnaire was made available to health care professionals working in neonatal care in Brazil. Results A total of 1,092 professionals replied, of which 681 (62%) reported using TH in their units. Of these, 624 (92%) provided TH practices details: 136 (20%) did not use any neurologic score or amplitude-integrated electroencephalogram (aEEG) to assess encephalopathy and 81(13%) did not answer this question. Any specific training for encephalopathy assessment was provided to only 81/407 (19%) professionals. Infants with mild HIE are cooled according to 184 (29%) of the respondents. Significant variations in practice were noticed concerning time of initiation and cooling methods, site of temperature measurements and monitoring, and access to aEEG, electroencephalogram (EEG), and neurology consultation. Only 19% could perform a brain magnetic resonance imaging (MRI), and 31% reported having a well-established follow-up program for these infants. Conclusion TH has been implemented in Brazil but with significant heterogeneity for most aspects of hypothermia practices, which may affect safety or efficacy of the therapy. A step forward toward quality improvement is important.

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