Nocturnal Paroxysmal Dystonia

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Nocturnal frontal lobe epilepsy is seen exclusively during sleep and is characterized by three distinct seizure phenotypes: paroxysmal arousals, paroxysmal dystonia, and episodic wandering. Mutations of CHRNA4, CHRNB2, or CHRNA2 genes encoding alpha4, beta2 or alpha2 subunits of neuronal nicotinic ACh receptor (nAChR) have been identified in the individuals with sporadic type NFLE and pedigrees with autosomal dominant type of NFLE (ADNFLE). In the past decade, various electrophysiological studies have analyzed the functional abnormalities of ADNFLE/NFLE mutant nAChR; however, the detailed pathogenesis of ADNFLE/NFLE has remained to be clarified. Therefore, to explore the pathogenesis of ADNFLE/NFLE, genetic animal models harboring ADNFLE mutant Chrna4 genes have recently been established. The face, construct and predictive validities have been demonstrated in a transgenic rat strain bearing the S284L mutant Chrna4 gene. The in vivo analyses of the functional abnormalities using

Sleep disorders presenting involuntary movements may be very annoying to patients, apart from their negative influence on sleep.|To report the use of botulinum type-A toxin (BoNT-A) to manage the case of a patient whose sleep was severely disrupted by episodes of dystonic posturing of the right lower limb triggered by periodic limb movements of sleep (PLMS).|A 79-year-old woman with mild post-stroke right hemiparesis presented with recurrent painful episodes of dystonia of the right lower limb, which disrupted her sleep. The dystonic episodes could also be voluntarily triggered by extension of the right hallux. Polysomnography confirmed that the dystonic episodes were triggered by PLMS. Twenty units of BoNT-A (20U/500U vial) were injected into her right extensor hallucis longus.|Shortly after BoNT-A was injected, the dystonic symptoms abated, and the patient achieved better sleep efficiency.|The PLMS-related involuntary extension of the hallux was probably triggering the nocturnal post

Mutations of genes encoding alpha4, beta2, or alpha2 subunits (CHRNA4, CHRNB2, or CHRNA2, respectively) of nAChR [neuronal nicotinic ACh (acetylcholine) receptor] cause nocturnal frontal lobe epilepsy (NFLE) in human. NFLE-related seizures are seen exclusively during sleep and are characterized by three distinct seizure phenotypes: "paroxysmal arousals," "paroxysmal dystonia," and "episodic wandering." We generated transgenic rat strains that harbor a missense mutation S284L, which had been identified in CHRNA4 in NFLE. The transgenic rats were free of biological abnormalities, such as dysmorphology in the CNS, and behavioral abnormalities. The mRNA level of the transgene (mutant Chrna4) was similar to the wild type, and no distorted expression was detected in the brain. However, the transgenic rats showed epileptic seizure phenotypes during slow-wave sleep (SWS) similar to those in NFLE exhibiting three characteristic seizure phenotypes and thus fulfilled the diagnostic criteria of

Aberrant smooth muscle dystonia during hemolytic episodes in paroxysmal nocturnal hemoglobinuria (PNH) is implicated in the symptoms of abdominal pain, dysphagia and erectile dysfunction. Here we report two PNH patients treated with the complement inhibitor, eculizumab. Complement inhibition has been sustained for over 2 years and results in resolution of intravascular hemolysis and amelioration of symptoms associated with smooth muscle contractions.

Progressive supranuclear palsy (PSP) is classically characterized by supranuclear ophthalmoplegia, paroxysmal imbalance with backward falling, axial dystonia, rigidity, pseudobulbar palsy and cognitive dysfunction. However, incomplete or atypical clinical presentation has been previously reported, but in all these cases, the patients had at least one of the main clinical features of the disease (ophthalmoplegia, parkinsonian syndrome or cognitive dysfunction).|A 60-year-old woman presented with nocturnal agitation and choreiform movements. A few months later she developed severe swallowing disorders, caused by achalasia of the upper esophageal sphincter, and responsible for recurrent acute respiratory distress and pneumonia, prevailing to tracheotomy and gastrostomy. She died suddenly two years after the onset of the symptoms.|Postmortem examination of brain revealed a tauopathy, with deposition of abnormal phosphorylated tau in threads and in coiled-shaped as well as globose tangles