Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

Fatal familial insomnia (FFI) is a rare prionopathy with unusually high incidence in the Basque Country. We report detailed data on clinical, diagnostic, histopathological, and biochemical characteristics of a recent FFI case series. The Basque Brain Bank database was screened for patients diagnosed from 2010 to 2021 with standard genetic and/or neuropathological criteria.

Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival period.

Background And Purpose: Sporadic Creutzfeldt-Jakob disease is a rapidly progressing and highly variable neurodegenerative disease with heterogeneous clinical presentation and a median survival time from diagnosis to death of 4-6 months.

Methods: We report a rare case of a 61-year-old woman with a history of initially rapidly progressive dementia, with subsequent development of pyramidal and extrapyramidal signs and with an unusually long survival period of 14 years. Initial magnetic resonance imaging evaluation, single-photon emission computed tomography, and electroencephalogram did not show relevant alterations.

MRI findings in cervical spondylotic myelopathy with gadolinium enhancement: Review of seven cases.

Cervical spondylotic myelopathy (CSM) is a clinical syndrome secondary to a spinal cord compression due to cervical spondylosis. In some cases, conventional MRI typically shows an intramedullary hyperintense signal on T2W imaging and contrast enhancement on post-gadolinium T1W imaging. We report a series of seven patients with CSM who had typical clinical presentation and imaging findings on T2W and contrast-enhanced T1W sequences.

A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis.

: To perform a comprehensive lipid profiling to evaluate potential lipid metabolic differences between patients with amyotrophic lateral sclerosis (ALS) and controls, and to provide a more profound understanding of the metabolic abnormalities in ALS. : Twenty patients with ALS and 20 healthy controls were enrolled in a cross-sectional study. Untargeted lipidomics profiling in fasting serum samples were performed by optimized UPLC-MS platforms for broad lipidome coverage.

[Neuroschistosomiasis: a challenging diagnosis].

Introduction: Neuroschistosomiasis is an uncommon and under diagnosed disease in our country because of the no clinical suspicion. The most common neurological manifestations are epileptic seizures as central nervous system involvement or different types of myelopathies: transverse myelitis, myeloradiculopathy, cauda equina syndrome or Brown-Sequard syndrome.

Case Report: A 27 years-old male from an endemic area, with atypical neurological affectation as he presented myelopathy and multifocal neuritis.