Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Objective: The objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS).

Methods: We included 16 patients from 10 families diagnosed with HEMS by brain MRI criteria. Exome sequencing was used to search for causal mutations.

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.

Objective: To describe 4 children with a novel hypomyelinating leukoencephalopathy, defined by a distinct pattern of magnetic resonance imaging (MRI) abnormalities.

Design: In our ongoing study on leukoencephalopathies of unknown origin, MRIs of patients are rated in a standardized manner. Patients are grouped according to their MRI abnormalities.

Resin bond strength to densely sintered alumina ceramic.

Purpose: The aim of this in vitro study was to investigate the resin bond strength and durability of adhesive bonding systems to densely sintered, pure aluminum oxide ceramic.

Materials And Methods: Acrylic glass tubes filled with composite resin were bonded to industrially manufactured alumina ceramic disks with an ultrasonically machined surface. Groups of 20 samples were bonded in an alignment apparatus using five different bonding methods.

Benign hereditary chorea improved on stimulant therapy.

Stimulant therapy is usually contraindicated in patients with movement disorders such as tics or chorea. A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment.