Autonomic complaints in patients with restless legs syndrome.

BACKGROUND: Data regarding autonomic function in restless legs syndrome (RLS) are limited to heart rate and blood pressure changes in cases with periodic limb movements (PLMS). METHODS: We compared autonomic symptoms of 49 subjects with RLS vs 291 control subjects using the Scales for Outcome in Parkinson disease-Autonomic (SCOPA-AUT) questionnaire, consisting of 23 items in six domains scored from 0 to 3. The total score and domain scores were transformed to 0-100 points. Subjects with neurodegenerative disorders (i.e., dementia, Parkinsonism) were excluded. RESULTS: The RLS group was younger (mean±standard deviation, 77.9±8.0 vs 80.5±7.9years; P=.03) and included more women (84% vs 69%; P=.04). The mean SCOPA-AUT total score was higher in the RLS group compared with the control group (20±11 vs 16±9; P=.005). Additionally the RLS group had abnormalities in gastrointestinal, cardiovascular, and pupillomotor domains. When comparing the percentage of subjects with any complaint on individual questions (score of ⩾1), the RLS group had a greater number of subjects with sialorrhea, constipation, early abdominal fullness, lightheadedness when standing, and heat intolerance. CONCLUSIONS: Autonomic complaints, especially gastrointestinal, cardiovascular, and oversensitivity to light, were significantly increased in subjects with RLS. Causes for autonomic dysfunction in RLS require further investigation.

Primary writing tremor responds to unilateral thalamic deep brain stimulation.

Primary writing tremor is a task associated tremor which occurs during and interferes with handwriting. Considered in most cases to be a nonprogressive disorder, a number of patients are significantly debilitated by the disease. The pathophysiology of the disorder is not fully understood, but felt to represent a variant of either essential tremor or dystonia versus a separate entity. Treatment has been limited to medications, writing devices and botulinum toxin type A for most patients. Recently, deep brain stimulation has been reported in a few patients as an effective option for those patients with medically refractory symptoms. We report our experience in a patient with primary writing tremor who underwent successful thalamic deep brain stimulation, discuss the current theories on the pathophysiology of the disorder and review the current literature of deep brain stimulation for refractory primary writing tremor.

Cerebellar Ataxia from Multiple Potential Causes: Hypothyroidism, Hashimoto's Thyroiditis, Thalamic Stimulation, and Essential Tremor.

BACKGROUND: Both hypothyroidism and Hashimoto's thyroiditis (HT) can rarely be associated with cerebellar ataxia. Severe essential tremor (ET) as well as bilateral thalamic deep brain stimulation (DBS) may lead to subtle cerebellar signs. CASE REPORT: We report a 74-year-old male with hypothyroidism and a 20-year history of ET who developed cerebellar ataxia after bilateral thalamic DBS. Extensive workup revealed elevated thyroid stimulating hormone and thyroperoxidase antibody titers confirming the diagnosis of HT. DISCUSSION: Our case demonstrates multiple possible causes of cerebellar ataxia in a patient, including hypothyroidism, HT, chronic ET, and bilateral thalamic DBS. Counseling of patients may be appropriate when multiple risk factors for cerebellar ataxia coexist in one individual.

Movement disorders in patients with multiple sclerosis.

Apart from tremor and restless-legs syndrome, abnormal involuntary movements are uncommon in patients with multiple sclerosis. A review of the literature in multiple sclerosis reveals case reports of a variety of other movement disorders such as myoclonus, spasmodic torticollis, paroxysmal dystonia, chorea, ballism, and parkinsonism. This chapter presents a thorough review of these movement disorders in multiple sclerosis patients and provides readers with potential underlying pathogenetic mechanisms.

Movement disorders.

Abnormal involuntary movements are major features of a large group of neurologic disorders, some of which are neurodegenerative and pose a significant diagnostic and treatment challenge to treating physicians. This article presents a concise review of clinical features, pathogenesis, epidemiology, and management of seven of the most common movement disorders encountered in a primary care clinic routinely. The disorders discussed are Parkinson disease, essential tremor, restless legs syndrome, Huntington disease, drug-induced movement disorder, Wilson disease, and Tourette syndrome.

Abnormal venous and arterial patterning in Chordin mutants.

Classic dye injection methods yielded amazingly detailed images of normal and pathological development of the cardiovascular system. However, because these methods rely on the beating heart of diffuse the dyes, the vessels visualized have been limited to the arterial tree, and our knowledge of vein development is lagging. In order to solve this problem, we injected pigmented methylsalicylate resins in mouse embryos after they were fixed and made transparent. This new technique allowed us to image the venous system and prompted the discovery of multiple venous anomalies in Chord-/- mutant mice. Genetic inactivation of Chordin, an inhibitor of the Bone Morphogenetic Protein signaling pathway, results in neural crest defects affecting heart and neck organs, as seen in DiGeorge syndrome patients. Injection into the descending aorta of Chrd-/- mutants demonstrated how a very severe early phenotype of the aortic arches develops into persistent truncus arteriosus. In addition, injection into the atrium revealed several patterning defects of the anterior cardinal veins and their tributaries, including absence of segments, looping and midline defects. The signals that govern the development of the individual cephalic veins are unknown, but our results show that the Bone Morphogenetic Protein pathway is necessary for the process.

The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome.

The chordin/Bmp system provides one of the best examples of extracellular signaling regulation in animal development. We present the phenotype produced by the targeted inactivation of the chordin gene in mouse. Chordin homozygous mutant mice show, at low penetrance, early lethality and a ventralized gastrulation phenotype. The mutant embryos that survive die perinatally, displaying an extensive array of malformations that encompass most features of DiGeorge and Velo-Cardio-Facial syndromes in humans. Chordin secreted by the mesendoderm is required for the correct expression of Tbx1 and other transcription factors involved in the development of the pharyngeal region. The chordin mutation provides a mouse model for head and neck congenital malformations that frequently occur in humans and suggests that chordin/Bmp signaling may participate in their pathogenesis.