Mult Scler J Exp Transl Clin
October 2021
Background: Neurofilament light chain (NfL) is an attractive biomarker of disease activity and progression in MS, but there is a lack in long-term prognostic data.
Objective: To test the long-term clinical and radiological prognostic value of cerebrospinal fluid (CSF)-NfL among newly diagnosed patients with MS.
Methods: Newly diagnosed MS patients where followed prospectively with baseline CSF-NfL and repeated MRI and clinical assessments for up to 10 years.
Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5' UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear whether deletions including only the non-coding region of FMR1 are pathogenic. We report a deletion in the 5' UTR of FMR1 in an unaffected male infant and review 12 reported deletions involving only the non-coding region of FMR1.
View Article and Find Full Text PDFObjectives: To identify Magnetic Resonance Imaging (MRI), clinical and demographic biomarkers predictive of worsening information processing speed (IPS) as measured by Symbol Digit Modalities Test (SDMT).
Methods: Demographic, clinical data and 1.5 T MRI scans were collected in 76 patients at time of inclusion, and after 5 and 10 years.
Mult Scler J Exp Transl Clin
January 2020
Background: Multiple sclerosis is often associated with unemployment. The contribution of grey matter atrophy to unemployment is unclear.
Objectives: To identify magnetic resonance imaging biomarkers of grey matter and clinical symptoms associated with unemployment in multiple sclerosis patients.
Background: The role of biomarkers to predict clinical outcome in multiple sclerosis (MS) is still debated.
Objective: To test whether cerebrospinal fluid (CSF) light-chain neurofilament (NfL) levels in newly diagnosed patients with MS could predict clinical outcome over a 10-year period.
Methods: Patients with newly diagnosed MS underwent standardized clinical assessments at baseline and 5 and 10 years of follow-up.
J Neurol Neurosurg Psychiatry
October 2014
Objectives: To identify MRI biomarkers associated with long-term disability progression in patients with multiple sclerosis (MS), and to define the rate of evolution of global, tissue-specific and regional atrophy in patients with MS over long-term.
Methods: MRI of the brain and clinical neurological assessment was performed in 81 patients at time of first visit and after 5 and 10 years of follow-up. MRI was acquired on 1.