Clinical characterization of a novel p.Gly615Glu mutation in nine family members with familial hemiplegic migraine.

Familial hemiplegic migraine type 2 results from pathogenic variants in the gene, which encodes for a catalytic subunit of sodium/potassium ATPase. This extremely rare autosomal dominant disorder manifests with a spectrum of symptoms, most commonly pure hemiplegic phenotype, epilepsy, and/or intellectual disability. In this study, we detail the clinical features and genetic analysis of nine patients from a large family spanning four generations, with all carrying a previously unreported likely pathogenic variant, p.

An evolving machine-learning-based algorithm to early predict response to anti-CGRP monoclonal antibodies in patients with migraine.

Background: The present study aimed to determine whether machine-learning (ML)-based models can predict 3-, 6, and 12-month responses to the monoclonal antibodies (mAbs) against the calcitonin gene-related peptide (CGRP) or its receptor (anti-CGRPmAbs) in patients with migraine using early predictors (up to one month) and to create an evolving prediction tool.

Methods: In this prospective cohort study data from patients with migraine who had received anti-CGRP mAbs for 12 months were collected. Demographic and monthly clinical variables were collected, including monthly headache days (MHDs), days with acute medication use, number of analgesics and Headache Impact Test-6.

Incorporation of the central vein sign into the McDonald criteria.

Background: Diagnosis of multiple sclerosis (MS) frequently relies on MRI dissemination in time (DIT) and space (DIS), as codified in 2017 McDonald criteria (McD 2017). The central vein sign (CVS) is a proposed MS diagnostic biomarker, but its optimal incorporation into McD 2017 has not been extensively studied.

Objective: Evaluate the diagnostic performance of several methods incorporating CVS into McD 2017 radiological DIS criteria.

Molecular and cellular determinants of L-Dopa-induced dyskinesia in Parkinson's Disease.

Treatment with L-3,4-dihydroxyphenylalanine (L-Dopa) compensates for decreased striatal dopamine (DA) levels and reduces Parkinson's disease (PD) symptoms. However, during disease progression, L-Dopa-induced dyskinesia (LID) develops virtually in all PD patients, making the control of PD symptoms difficult. Thus, understanding the mechanisms underlying LID and the control of these motor abnormalities is a major issue in the care of PD patients.

Decrement of choroid vascularization during spontaneous migraine attacks: An optical coherence tomography angiography study.

Objective: This study aimed to analyze the microcirculation of the macula, the optic nerve, and the choroid in patients with migraine by optical coherence tomography angiography (OCTA) during spontaneous migraine attacks, comparing the findings with scans performed in the interictal period in the same subjects and healthy controls (HCs).

Methods: In this case-crossover design study, patients diagnosed with migraine who underwent an OCTA during a migraine attack were enrolled. A cohort of HCs was recruited for comparison.