scholarly journals A New DARS2 Mutation Discovered in an Adult Patient

2020 ◽  
Vol 12 (1) ◽  
pp. 107-113
Author(s):  
Rosy N’Gbo N’Gbo Ikazabo ◽  
Christian Mostosi ◽  
Patrice Jissendi ◽  
Marie-Anne Labaisse ◽  
Isabelle Vandernoot
Keyword(s):  
Spinal Cord ◽  
White Matter ◽  
Adult Patient ◽  
Pathogenic Mutation ◽  
Trna Synthetase ◽  
Compound Heterozygous ◽  
Synthetase Activity ◽  
Compound Heterozygosity ◽  
Resonance Imaging ◽  
Brain And Spinal Cord

We report a case of an adult patient suffering from leukoencephalopathy with brainstem and spinal cord involvement and elevated white matter lactate (LBSL) caused by a DARS2 polymorphism. DARS2 mutation was identified by combining MRI and genetic analysis. Our patient was affected by compound heterozygosity for a pathogenic mutation and a common variant, but with reduced aspartyl-tRNA synthetase activity. Brain and spinal cord magnetic resonance imaging revealed extensive white matter abnormalities; spectroscopy revealed no lactate elevation. A new compound heterozygous DARS2 variant combined with a polymorphism in the other allele in an adult patient with LBSL was identified, resulting in reduced DARS2 activity. This combination is rare and has consequences on how we should consider benign variant polymorphisms in the future.

Acute pyogenic necrotizing encephalomyelitis: a fulminant and fatal infection

2013 ◽  
Vol 11 (5) ◽  
pp. 591-595 ◽  
Author(s):  
Venkatesh Shankar Madhugiri ◽  
Sudheer Kumar Gundamaneni ◽  
Vani Santosh ◽  
Barath Jagadisan ◽  
Gopalakrishnan Madhavan Sasidharan ◽  
...  
Keyword(s):  
Spinal Cord ◽  
White Matter ◽  
Sensory Loss ◽  
Potential Space ◽  
Resonance Imaging ◽  
White Matter Tracts ◽  
Causal Factors ◽  
Spread Of Infection ◽  
Brain And Spinal Cord ◽  
The Brain

In this report the authors describe a rare case of a fulminant, pyogenic, necrotizing infection of the spinal cord and brain. Necrotizing lesions of the brain and spinal cord are usually infectious in origin and are associated with high rates of morbidity and death. Although the pathogens responsible have been identified in a few instances, the causal factors remain unknown in many cases. An 11-year-old girl developed acute, rapidly progressive paraplegia with bladder involvement and sensory loss below T-10. She had been treated recently for a Staphylococcus aureus infection of the knee joint precipitated by a penetrating injury with organic matter in the aftermath of a cyclone. Although appropriate antibiotic therapy was instituted, the spinal cord infection progressed to involve the entire spinal cord, brainstem, and brain. This fulminant course was marked by a rapid deterioration in the patient's clinical condition, ultimately leading to her death. Magnetic resonance imaging demonstrated a previously undescribed pattern of longitudinal enhancement along the spinal cord, as well as the white matter tracts in the brainstem and brain. The possible route of spread of infection along the neuraxis is postulated to be the potential space along the white matter tracts. Treatment is not standardized due to the rarity of the condition.

scholarly journals Volumetric MRI Assessment of Brain and Spinal Cord in Finnish Twins Discordant for Multiple Sclerosis

Medicina ◽  
2012 ◽  
Vol 48 (9) ◽  
pp. 65
Author(s):  
Hanna Kuusisto ◽  
Xingchen Wu ◽  
Prasun Dastidar ◽  
Tiina Luukkaala ◽  
Irina Elovaara
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Spinal Cord ◽  
White Matter ◽  
Magnetic Resonance ◽  
Brain Size ◽  
White Matter Lesions ◽  
Resonance Imaging ◽  
Brain And Spinal Cord ◽  
The Brain

Background and Objective. Brain size, white matter hyperintensity, and the development of brain atrophy are known to be highly heritable. The decrease of brain volume starts from the very onset of multiple sclerosis and is 10-fold compared with normal aging. The aim of this study was to assess whether the brain and spinal cord volumes and the volume of white matter lesions differed between twins with multiple sclerosis and their asymptomatic co-twins. Material and Methods. A co-twin control method was used to evaluate whether the brain and spinal cord volumes differ between twins with multiple sclerosis and their co-twins. Nineteen twin pairs were studied neurologically, and the volumes of T1, T2, FLAIR, and gadolinium-enhanced lesions and those of the brain and the spinal cord were obtained by magnetic resonance imaging. Results. Significant differences in the brain (P=0.064) or spinal cord (P=0.648) volumes were not detected. Four of the 7 monozygotic and 5 of the 12 dizygotic co-twins had focal brain white matter lesions, but none fulfilled the magnetic resonance imaging criteria of Barkhof. Spinal cord lesions were not seen in any of the co-twins. Conclusions. The absence of a significant difference in the brain or spinal cord volume between the twins with multiple sclerosis and their co-twins supports the recent observation of brain size and the development of brain atrophy being highly heritable.

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

2013 ◽  
Vol 450 (2) ◽  
pp. 345-350 ◽  
Author(s):  
Laura van Berge ◽  
Josta Kevenaar ◽  
Emiel Polder ◽  
Agnès Gaudry ◽  
Catherine Florentz ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Enzyme Activity ◽  
Catalytic Activity ◽  
White Matter ◽  
Autosomal Recessive ◽  
Trna Synthetase ◽  
Compound Heterozygous ◽  
Small Contribution ◽  
Missense Mutations ◽  
White Matter Disorder

The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthetase). Generally, patients are compound heterozygous for mutations in DARS2. Many different mutations have been identified in patients, including several missense mutations. In the present study, we have examined the effects of missense mutations found in LBSL patients on the expression, enzyme activity, localization and dimerization of mtAspRS, which is important for understanding the cellular defect underlying the pathogenesis of the disease. Nine different missense mutations were analysed and were shown to have various effects on mtAspRS properties. Several mutations have a direct effect on the catalytic activity of the enzyme; others have an effect on protein expression or dimerization. Most mutations have a clear impact on at least one of the properties of mtAspRS studied, probably resulting in a small contribution of the missense variants to the mitochondrial aspartylation activity in the cell.

scholarly journals Mansonic neuroschistosomiasis

2013 ◽  
Vol 71 (9B) ◽  
pp. 714-716 ◽  
Author(s):  
Otavio Augusto Moreno de Carvalho
Keyword(s):  
Magnetic Resonance Imaging ◽  
Spinal Cord ◽  
Clinical Characteristics ◽  
Signs And Symptoms ◽  
Diagnostic Tools ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Examination ◽  
Brain And Spinal Cord ◽  
The Brain

Mansonic neuroschistosomiasis (MN) is not only the most common but also the most serious ectopic presentation of the infection by Schistosoma mansoni. Both, brain and spinal cord can be independently affected by the infection, but the later is more frequently affected. Brain MN by itself is due to the presence of eggs and/or adult worms in situ and can be symptomatic or asymptomatic. Unlike the brain MN, spinal cord mansonic neuroschistosomiasis is more frequently symptomatic. In both forms the intensity, the seriousness and also the clinical characteristics of signs and symptoms depend on the amount of eggs in the compromised region and on the intensity of the inflammatory reaction surrounding the eggs. Cerebrospinal fluid examination and magnetic resonance imaging are important diagnostic tools. Both corticosteroids and drugs against S. mansoni are used in the treatment. The outcome may largely depend upon the prompt use of these drugs.

scholarly journals Magnetic resonance imaging correlates of physical disability in relapse onset multiple sclerosis of long disease duration

2013 ◽  
Vol 20 (1) ◽  
pp. 72-80 ◽  
Author(s):  
H Kearney ◽  
MA Rocca ◽  
P Valsasina ◽  
L Balk ◽  
J Sastre-Garriga ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Magnetic Resonance ◽  
Physical Disability ◽  
Disease Duration ◽  
Resonance Imaging ◽  
Lesion Load ◽  
Brain And Spinal Cord

Background: Understanding long-term disability in multiple sclerosis (MS) is a key goal of research; it is relevant to how we monitor and treat the disease. Objectives: The Magnetic Imaging in MS (MAGNIMS) collaborative group sought to determine the relationship of brain lesion load, and brain and spinal cord atrophy, with physical disability in patients with long-established MS. Methods: Patients had a magnetic resonance imaging (MRI) scan of their brain and spinal cord, from which we determined brain grey (GMF) and white matter (WMF) fractional volumes, upper cervical spinal cord cross-sectional area (UCCA) and brain T2-lesion volume (T2LV). We assessed patient disability using the Expanded Disability Status Scale (EDSS). We analysed associations between EDSS and MRI measures, using two regression models (dividing cohort by EDSS into two and four sub-groups). Results: In the binary model, UCCA ( p < 0.01) and T2LV ( p = 0.02) were independently associated with the requirement of a walking aid. In the four-category model UCCA ( p < 0.01), T2LV ( p = 0.02) and GMF ( p = 0.04) were independently associated with disability. Conclusions: Long-term physical disability was independently linked with atrophy of the spinal cord and brain T2 lesion load, and less consistently, with brain grey matter atrophy. Combinations of spinal cord and brain MRI measures may be required to capture clinically-relevant information in people with MS of long disease duration.

scholarly journals Hemosiderosis of Central Nervous System: a case report of a rare and underdiagnosed disease

2021 ◽  
Vol 10 (11) ◽  
pp. e270101119579
Author(s):  
Cássio Marques Perlin ◽  
Lanusa Alquino Colombo ◽  
Anderson Dillmann Groto ◽  
Bruno Gleizer da Silva Rigon
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Superficial Siderosis ◽  
Medical Clinic ◽  
Resonance Imaging ◽  
System A ◽  
Magnetic Resonance Imaging Mri ◽  
Brain And Spinal Cord ◽  
The Brain

Superficial Siderosis (SS) of Central Nervous System is a rare disease characterized by the deposit of hemosiderin in the brain and spinal cord. Clinically, it is characterized by progressive sensorineural ataxia and deafness associated with injury of superior motor neuron. The diagnosis is made by magnetic resonance imaging (MRI) of the encephalon and spinal cord. The objective of the study is to report the case of a patient with characteristic elements of the syndrome, accompanied in a private medical clinic.

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