… , an additional gene, Zona Pellucida-like Domain containing 1 (ZPLD1), has been reported
to be disrupted in a CCM patient harboring a balanced translocation between chromosome X …

The spectrum of Myelin Oligodendrocytes Glycoprotein (MOG) antibody disease constitutes
a recently described challenging entity, referring to a relatively new spectrum of autoimmune …

Objective To describe clinical and radiologic features associated with myelin oligodendrocyte
glycoprotein antibodies (MOG-Ab) in a large French nationwide adult cohort, to assess …

Objectives: To identify a new idiopathic basal ganglia calcification (IBGC)-causing gene.
Methods: In a 3-generation family with no SLC20A2 mutation, we performed whole exome …

Objective The main objective was to compare clinical features, disease course, and myelin
oligodendrocyte glycoprotein (MOG) antibody (Ab) dynamics between children and adults …

Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an
autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first …

We retrospectively analyzed 146 patients fulfilling the European Federation of Neurological
Societies and the Peripheral Nerve Society (EFNS/PNS) criteria for definite chronic …

… X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease resulting from a mutation
in the ABCD1 gene located on the X chromosome. Various phenotypes exist, including …

Background Myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) are related to several
acquired demyelinating syndromes in adults, but the therapeutic approach is currently …

Mutations in one of the five eukaryotic initiation factor 2B genes (EIF2B1-5) were first described
in childhood ataxia with cerebral hypomyelination—vanishing white matter syndrome. …