TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases.

Paroxysmal kinesigenic dyskinesia (PKD) are movement disorders triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. We report three patients presenting PKD with different TMEM151A mutations, two of which have not been described yet.

Anterior cerebral artery dilation to increase cerebral perfusion in a patient with chronic internal carotid artery occlusion.

Chronic internal carotid artery occlusions (CICAO) increase the risk of stroke recurrence and cognitive dysfunction. Here, we describe the case of an adult patient with ipsilateral CICAO who underwent endovascular treatment of anterior cerebral artery stenosis to improve cerebral perfusion. First, the patient presented ataxia and left facial palsy. Magnetic resonance imaging (MRI) showed right hemispherpe cerebral infarct, right CICAO, and sub-occlusive stenosis of the left bulbar internal carotid artery. Stenting of the left carotid artery was performed. One year later, she experienced acute walking imbalance and left hemiparesis. MRI showed new watershed and anterior cerebral artery infarctions, worsening of the right hemisphere hypoperfusion, and a new severe stenosis of the right anterior cerebral artery. Dilation of this stenosis was performed. Perfusion parameters, clinical deficit, and cognitive functions improved after the endovascular treatment, and the patient had no stroke recurrence.

CSF ß-amyloid is not a prognostic marker in multiple sclerosis patients.

BACKGROUND: Multiple sclerosis (MS) is the most common chronic inflammatory, demyelinating disorder. Given its variable prognosis, the identification of new prognostic biomarkers is needed. OBJECTIVES: The aims of our study were to assess the prognostic values of CSF ß-amyloid-42 (Aß42) and ß-amyloid-40 (Aß40) levels in MS patients. METHODS: Eighty-nine (55 RRMS, 34 PPMS) patients with a recent diagnosis and 27 controls were included in this single-centre retrospective study. Clinical, MRI and CSF data have been collected and were analysed to evaluate the potential value of CSF Aß42 and Aß40 levels as MS biomarkers. RESULTS: CSF Aß levels as well as Aß42/Aß40 ratio were identical in MS patients and controls. Although CSF Aß42 and Aß40 levels were higher in PPMS than in RRMS and in patients with higher EDSS, a multivariate analysis including age and EDSS demonstrated that only age of patients was associated with CSF amyloid levels. Additionally, 55 RRMS patients were followed for 3 years. We found no association between baseline amyloid levels and 3-year disability. CONCLUSION: Our data do not support an association between CSF amyloid levels and MS status and disease severity. We suggest that CSF amyloid levels are not a prognostic biomarker in recently diagnosed RRMS.

Serum GFAP in multiple sclerosis: correlation with disease type and MRI markers of disease severity.

Neurofilament light chain (NfL) has been demonstrated to correlate with multiple sclerosis disease severity as well as treatment response. Nevertheless, additional serum biomarkers are still needed to better differentiate disease activity from disease progression. The aim of our study was to assess serum glial fibrillary acid protein (s-GFAP) and neurofilament light chain (s-NfL) in a cohort of 129 multiple sclerosis (MS) patients. Eighteen primary progressive multiple sclerosis (PPMS) and 111 relapsing remitting MS (RRMS) were included. We showed that these 2 biomarkers were significantly correlated with each other (R = 0.72, p < 0.001). Moreover, both biomarkers were higher in PPMS than in RRMS even if multivariate analysis only confirmed this difference for s-GFAP (130.3 ± 72.8 pg/ml vs 83.4 ± 41.1 pg/ml, p = 0.008). Finally, s-GFAP was correlated with white matter lesion load and inversely correlated with WM and GM volume. Our results seem to confirm the added value of s-GFAP in the context of multiple sclerosis.