scholarly journals Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

2019 ◽  
Vol 179 (11) ◽  
pp. 2284-2291 ◽  
Author(s):  
Brian C. Kavanaugh ◽  
Emily B. Warren ◽  
Ozan Baytas ◽  
Michael Schmidt ◽  
Derek Merck ◽  
...  
Keyword(s):  
Disease Progression ◽  
Mri Findings ◽  
Pathogenic Variants ◽  
Longitudinal Mri

scholarly journals Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

2021 ◽  
Vol 22 (8) ◽  
pp. 4202
Author(s):  
Carlotta Spagnoli ◽  
Carlo Fusco ◽  
Antonio Percesepe ◽  
Vincenzo Leuzzi ◽  
Francesco Pisani
Keyword(s):  
Movement Disorders ◽  
Time Course ◽  
Neonatal Period ◽  
Age Of Onset ◽  
Brain Mri ◽  
Neonatal Seizure ◽  
Mri Findings ◽  
Epileptic Encephalopathies ◽  
Pathogenic Variants ◽  
Neonatal Onset

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000–2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants. The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities. We found high genetic heterogeneity and low numbers of described patients. Neurological phenotypes are complex, reflecting the involvement of genes necessary for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.

Longitudinal MRI findings in patients with newly diagnosed glioblastoma after intraoperative radiotherapy

2020 ◽  
Vol 47 (2) ◽  
pp. 166-173
Author(s):  
Alex Förster ◽  
Johannes Böhme ◽  
Máté E. Maros ◽  
Stefanie Brehmer ◽  
Marcel Seiz-Rosenhagen ◽  
...  
Keyword(s):  
Intraoperative Radiotherapy ◽  
Newly Diagnosed ◽  
Mri Findings ◽  
Longitudinal Mri ◽  
Newly Diagnosed Glioblastoma

Longitudinal MRI findings in pyridoxine-dependent seizures

Neurology ◽  
1998 ◽  
Vol 51 (1) ◽  
pp. 74-78 ◽  
Author(s):  
S. M. Gospe ◽  
S. T. Hecht
Keyword(s):  
Mri Findings ◽  
Longitudinal Mri

Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel

2020 ◽  
Vol 35 (7) ◽  
pp. 433-441
Author(s):  
Bindu Parayil Sankaran ◽  
Madhu Nagappa ◽  
Shwetha Chiplunkar ◽  
Sonam Kothari ◽  
Periyasamy Govindaraj ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Genetic Diagnosis ◽  
Gene Panel ◽  
Unknown Etiology ◽  
Mri Findings ◽  
Diagnostic Challenge ◽  
Variants Of Unknown Significance ◽  
Pathogenic Variants ◽  
Genetic Features ◽  
Biopsy Confirmation

The overlapping clinical and neuroimaging phenotypes of leukodystrophies pose a diagnostic challenge to both clinicians and researchers alike. Studies on the application of exome sequencing in the diagnosis of leukodystrophies are emerging. We used targeted gene panel sequencing of 6440 genes to investigate the genetic etiology in a cohort of 50 children with neuroimaging diagnosis of leukodystrophy/genetic leukoencephalopathy of unknown etiology. These 50 patients without a definite biochemical or genetic diagnosis were derived from a cohort of 88 patients seen during a 2.5-year period (2015 January-2017 June). Patients who had diagnosis by biochemical or biopsy confirmation (n = 17) and patients with incomplete data or lack of follow-up (n = 21) were excluded. Exome sequencing identified variants in 30 (60%) patients, which included pathogenic or likely pathogenic variants in 28 and variants of unknown significance in 2. Among the patients with pathogenic or likely pathogenic variants, classic leukodystrophies constituted 13 (26%) and genetic leukoencephalopathies 15 (30%). The clinical and magnetic resonance imaging (MRI) findings and genetic features of the identified disorders are discussed.

Outcomes of Cryptococcus meningoencephalitis and associated magnetic resonance imaging findings

2020 ◽  
Author(s):  
Woo-Jin Lee ◽  
Young Jin Ryu ◽  
Jangsup Moon ◽  
Soon-Tae Lee ◽  
Keun-Hwa Jung ◽  
...  
Keyword(s):  
Disease Progression ◽  
Brain Mri ◽  
Area Under The Curve ◽  
Mri Findings ◽  
Neurological Outcomes ◽  
Lesion Extension ◽  
Poor Outcomes ◽  
Periventricular Lesion ◽  
Score Range ◽  
Serial Brain

Abstract In Cryptococcus Neoformans meningoencephalitis, brain MRI findings might reflect the phathomechanism of disease progression that is fungal accumulation in the peri-venular space and consequent invasion into the parenchyma. This study analyzed serial brain MRI findings of 76 patients with cryptococcus meningoencephalitis in association with the disease progression and outcomes. MRI parameters included the enlarged periventricular space (ePVS) score (range 0 − 8), periventricular lesion extension, cryptococcoma, and hydrocephalus. Clinical outcomes at 2-week, 10-week, and 6-month were evaluated using modified Rankin scale (mRS) scores. At 6 months, 15 (19.7%) patient died and 34 (44.1%) had poor neurological outcomes (mRS scores > 2). At baseline, an ePVS score of ≥ 5 (Odds-ratio [OR]: 94.173, 95% confidence-interval [95% CI]: 7.507 − 1181.295, P < 0.001), periventricular lesion extension (OR: 51.965, 95% CI: 2.592 − 1041.673, P = 0.010), and presence of encephalitis feature (OR: 44.487, 95% CI: 1.689 − 1172.082, P = 0.023) were associated with 6-month poor outcomes. Presence of two or more risk factors at baseline was highly associated with the 6-month poor outcomes (area under the curve [AUC]: 0.978, P < 0.001) and mortality (AUC: 0.836, P < 0.001). Disease progression was associated with interval development of cryptococcoma and hydrocephalus. In conclusion, brain MRI findings might be useful in predicting poor outcomes and monitoring the disease progression of cryptococcus meningoencephalitis.

scholarly journals Enlarged periventricular space and periventricular lesion extension on baseline brain MRI predicts poor neurological outcomes in cryptococcus meningoencephalitis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Woo-Jin Lee ◽  
Young Jin Ryu ◽  
Jangsup Moon ◽  
Soon-Tae Lee ◽  
Keun-Hwa Jung ◽  
...  
Keyword(s):  
Disease Progression ◽  
Brain Mri ◽  
Area Under The Curve ◽  
Mri Findings ◽  
Neurological Outcomes ◽  
Lesion Extension ◽  
Poor Outcomes ◽  
Periventricular Lesion ◽  
Score Range ◽  
Serial Brain

AbstractIn Cryptococcus neoformans meningoencephalitis, brain MRI findings might reflect the phathomechanism of disease progression that is fungal accumulation in the peri-venular space and consequent invasion into the parenchyma. This study analyzed serial brain MRI findings of 76 patients with cryptococcus meningoencephalitis in association with the disease progression and outcomes. MRI parameters included the enlarged periventricular space (ePVS) score (range 0–8), periventricular lesion extension, cryptococcoma, and hydrocephalus. Clinical outcomes at 2-week, 10-week, and 6-month were evaluated using modified Rankin scale (mRS). At 6 months, 15 (19.7%) patients died and 34 (44.1%) had poor neurological outcomes (mRS scores > 2). At baseline, an ePVS score of ≥ 5 (Odds-ratio [OR]: 94.173, 95% confidence-interval [95%CI]: 7.507–1181.295, P < .001), periventricular lesion extension (OR: 51.965, 95%CI: 2.592–1041.673, P = .010), and presence of encephalitis feature (OR: 44.487, 95%CI: 1.689–1172.082, P = .023) were associated with 6-month poor outcomes. Presence of two or more risk factors among encephalitis feature, ePVS score ≥ 5, and periventricular lesion extension at baseline, was associated with 6-month poor outcomes (area under the curve [AUC]: 0.978, P < .001) and mortality (AUC: 0.836, P < .001). Disease progression was associated with interval development of cryptococcoma and hydrocephalus. Brain MRI findings might be useful in predicting outcomes and monitoring the progression of cryptococcus meningoencephalitis.

Audiovestibular symptoms in patients with multiple sclerosis: A correlation between self-reported symptomatology and MRI findings to monitor disease progression

2020 ◽  
Vol 45 ◽  
pp. 102431 ◽  
Author(s):  
Arianna Di Stadio ◽  
Massimo Ralli ◽  
Marta Altieri ◽  
Antonio Greco ◽  
Daniela Messineo ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Progression ◽  
Mri Findings

scholarly journals Sensitive biomarkers to Alzheimer's disease progression in longitudinal MRI from deep learning

2020 ◽  
Vol 16 (S5) ◽  
Author(s):  
Mengjin Dong ◽  
Long Xie ◽  
Jiancong Wang ◽  
Sandhitsu R Das ◽  
David A Wolk ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Deep Learning ◽  
Disease Progression ◽  
Longitudinal Mri
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