Results 11 to 20 of about 43,456 (236)

Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy [PDF]

Journal of Movement Disorders, 2022
Despite recent advances in next-generation sequencing, the underlying etiology of adult-onset leukoencephalopathy has been difficult to elucidate. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a ...
Jin Ho Jung, Jung Hwa Seo, Sukyoon Lee, Young Jin Heo, Donghyun Kim, Eun Joo Chung, Seong-il Oh   +6 more
doaj   +1 more source

Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts

Indian Journal of Radiology and Imaging, 2021
Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare association which is named as “Labrune syndrome” after Labrune who reported the first case in 1996.
Anagha R. Joshi, Kiran Kulkarni, Ankita U. Shah   +2 more
doaj   +1 more source

Cost‐effectiveness of second‐line therapies in adults with chronic immune thrombocytopenia

American Journal of Hematology, Volume 98, Issue 1, Page 122-130, January 2023., 2023
Abstract Major options for second‐line therapy in adults with chronic immune thrombocytopenia (ITP) include splenectomy, rituximab, and thrombopoietin receptor agonists (TRAs). The American Society of Hematology guidelines recommend rituximab over splenectomy, TRAs over rituximab, and splenectomy or TRAs while noting a lack of evidence on the cost ...
George Goshua, Pranay Sinha, Natalia Kunst, Lauren Pischel, Alfred Ian Lee, Adam Cuker   +5 more
wiley   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab

Frontiers in Neurology, 2023
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in SNORD118.
Elena Scaffei, Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Yanick J. Crow, Roberta Battini, Roberta Battini   +13 more
doaj   +1 more source

Neurological and Neuroradiological Patterns with COVID-19 Infection in Children: A Single Institutional Study

Indian Journal of Radiology and Imaging, 2022
Background Varied neurological manifestations in pediatric patients with coronavirus disease 2019 (COVID-19) have been increasingly reported from all across the world in the scientific literature. Objective We aimed to evaluate pediatric cases
Sanchi Rastogi, Foram Gala, Shilpa Kulkarni, Vrushabh Gavali   +3 more
doaj   +1 more source

Neuroimaging for differential diagnosis of transient neurological attacks

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Background Rapid yet comprehensive neuroimaging protocols are required for patients with suspected acute stroke. However, stroke mimics can account for approximately one in five clinically diagnosed acute ischemic strokes and the rate of thrombolyzed mimics can be as high as 17%.
Ying Wang, Hao Zha
wiley   +1 more source

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

Molecular Genetics & Genomic Medicine, 2023
Objective Roberts syndrome (RBS), also known as Roberts‐SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene.
Shuang He, Shuai Chen, Shu‐Jian Li, Jie‐Wen Zhang, Xin‐Liang Liang   +4 more
doaj   +1 more source

The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation

Medicines, 2021
Background: Genetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the c11orf73 gene. Methods:
Kohei Hattori, Kenji Tago, Shiori Memezawa, Arisa Ochiai, Sui Sawaguchi, Yukino Kato, Takanari Sato, Kazuma Tomizuka, Hiroaki Ooizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi   +12 more
doaj   +1 more source