Impaired white matter integrity between premotor cortex and basal ganglia in writer's cramp.

Introduction: Writer's cramp (WC) as a focal hand dystonia is characterized by abnormal postures of the hand during writing. Impaired inhibition and maladaptive plasticity in circuits linking the basal ganglia and sensorimotor cortices have been described. In particular, a dysfunction of lateral premotor cortices has been associated with impaired motor control in WC.

Altered functional connectivity in blepharospasm/orofacial dystonia.

Introduction: Blepharospasm is characterized by involuntary eyelid spasms. It can be associated with perioral dystonia (Meige's syndrome or orofacial dystonia). We aimed at studying resting-state functional brain connectivity in these patients and its potential modulation by therapeutic botulinum toxin injections.

Network-specific resting-state connectivity changes in the premotor-parietal axis in writer's cramp.

Background: Writer's cramp is a task-specific dystonia impairing writing and sometimes other fine motor tasks. Neuroimaging studies using manifold designs have shown varying results regarding the nature of changes in the disease.

Objective: To clarify and extend the knowledge of underlying changes by investigating functional connectivity (FC) in intrinsic connectivity networks with putative sensorimotor function at rest in an increased number of study subjects.

Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure.

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Background And Purpose: We recently identified mutations in the a3 (VI) collagen gene COL6A3 that cause autosomal-recessive isolated dystonia (DYT27). This article gives a detailed description of the clinical phenotype associated with this new type of dystonia.

Methods: A total of 5 recessive COL6A3 mutation carriers underwent clinical examinations, and case histories were recorded on videotape.