Results 291 to 300 of about 1,672,248 (364)

Combined Systemic Immunotherapy and Intrathecal Dexamethasone in Febrile Infection Related Epilepsy Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher   +5 more
wiley   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn   +17 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki   +5 more
wiley   +1 more source

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