Cervical dystonia is characterized by abnormal posturing of the head, often combined with tremor-like oscillatory head movements. The nature and source of these oscillatory head movements is controversial, so they were quantified to delineate their characteristics and develop a hypothetical model for their genesis. A magnetic search coil system was used to measure head movements in 14 subjects with cervical dystonia. Two distinct types of oscillatory head movements were detected for most subjects, even when they were not clinically evident. One type had a relatively large amplitude and jerky irregular pattern, and the other had smaller amplitude with a more regular and sinusoidal pattern. The kinematic properties of these two types of oscillatory head movements were distinct, although both were often combined in the same subject. Both had features suggestive of a defect in a central neural integrator. The combination of different types of oscillatory head movements in cervical dystonia helps to clarify some of the current debates regarding whether they should be considered as manifestations of dystonia or tremor and provides novel insights into their potential pathogenesis.
Purpose.
Spasmodic dysphonia (SD) is a rare but often debilitating disease. Due to lack of awareness among practitioners and lack of well-defined diagnostic criteria, it can be difficult for patients with SD to receive a diagnosis and subsequent treatment. There is currently no literature documenting the efficacy of the medical community in recognizing and diagnosing this disorder. We aimed to quantify the patients' experiences with obtaining a diagnosis of SD.
Methods.
One hundred seven consecutive patients with SD completed questionnaires about their experiences with SD. Patients were recruited either during outpatient laryngology visits or during participation in a National Institutes of Health funded study investigating SD.
Results.
It took patients an average of 4.43 years (53.21 months) to be diagnosed with SD after first going to a physician with vocal symptoms. Patients had to see an average of 3.95 physicians to receive a diagnosis of SD. Patients (31.4%) had been prescribed medications other than botulinum toxin to treat their symptoms. Patients (30%) attempted alternative therapies for treatment of SD, such as chiropractor or dietary modification.
Conclusions.
Despite advances in diagnostic modalities in medicine, the diagnosis of SD still remains elusive. Objective criteria for the diagnosis of SD and increased clinician education are warranted to address this diagnostic delay.
by
Liangliang Zhao;
Majda Hadziahmetovic;
Chenguang Wang;
Xueying Xu;
Ying Song;
Hyder Jinnah;
Jolanta Wodzinska;
Jared Iacovelli;
Natalie Wolkow;
Predrag Krajacic;
Alyssa Cwanger Weissberger;
John Connelly;
Michael Spino;
Michael K. Lee;
James Connor;
Benoit Giasson;
Z. Leah Harris;
Joshua L. Dunaief
Brain iron accumulates in several neurodegenerative diseases and can cause oxidative damage, but mechanisms of brain iron homeostasis are incompletely understood. Patients with mutations in the cellular iron-exporting ferroxidase ceruloplasmin (Cp) have brain iron accumulation causing neurodegeneration. Here, we assessed the brains of mice with combined mutation of Cp and its homolog hephaestin. Compared to single mutants, brain iron accumulation was accelerated in double mutants in the cerebellum, substantia nigra, and hippocampus. Iron accumulated within glia, while neurons were iron deficient. There was loss of both neurons and glia. Mice developed ataxia and tremor, and most died by 9 months. Treatment with the oral iron chelator deferiprone diminished brain iron levels, protected against neuron loss, and extended lifespan. Ferroxidases play important, partially overlapping roles in brain iron homeostasis by facilitating iron export from glia, making iron available to neurons.
by
Giovanni Defazio;
Mark Hallett;
Hyder Jinnah;
Glenn T. Stebbins;
Angelo F. Gigante;
Gina Ferrazzano;
Antonella Conte;
Giovanni Fabbrini;
Alfredo Berardelli
Existing scales for rating the severity of blepharospasm (BSP) are limited by a number of potential drawbacks. We therefore developed and validated a novel scale for rating the severity of BSP. The development of the scale started with careful examination of the clinical spectrum of the condition by a panel of experts who selected phenomenological aspects thought to be relevant to disease severity. Thereafter, selected items were first checked for reliability, then reliable items were combined to generate the scale, and clinimetric properties of the scale were evaluated. Finally, the confidence with which the scale could be used by people without high levels of movement disorders skill was assessed. The new scale, based on objective criteria, yielded moderate to almost perfect reliability, acceptable internal consistency, satisfactory scaling assumptions, lack of floor and ceiling effects, partial correlations with a prior severity scale and with a quality of life scale, and good sensitivity to change. Despite a few limitations, the foregoing features make the novel scale more suitable than existing scales to assess the severity of BSP in natural history and pathophysiologic studies as well as in clinical trials.