Utility of sleep studies in neurologic practice.

Sleep disorders are frequent in patients with neurologic disease. This article provides an approach to the patient with sleep complaints that can be implemented during the course of a neurologic evaluation. Recognition of a sleep complaint is the key that leads to use of appropriate scales and sleep diaries to form a differential sleep diagnosis. Choosing the correct sleep test is essential to confirm diagnosis and plan therapy. We describe the important sleep tests for practicing neurologists: polysomnography, multiple sleep latency test, and maintenance of wakefulness test, as well as actigraphy and oximetry. The approved use of limited channel home tests (also known as "out of center testing," or "portable monitoring") is reviewed and an algorithm provided to guide the approach to the sleepy patient.

Clinical findings in MuSK-antibody positive myasthenia gravis: a U.S. experience.

We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% were women, and age of onset was 9-79 years. Twenty-seven patients were nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation of America improvement status was achieved in 53% patients on corticosteroids, 51% with plasma exchange, and in 20% on intravenous immunoglobulin (IVIG). Thymectomy was beneficial in 7/18 patients at 3 years. Long-term (> or =3 years) outcome was very favorable in 58% of patients who achieved remission and/or minimal manifestation status. Overall, 73% improved. There was one MG-related death. This survey reinforces several cardinal features of MuSK-Ab-positive MG, including prominent bulbar involvement and anticholinesterase nonresponsiveness. Facial or tongue atrophy was rare. Most patients respond favorably to immunotherapy. The best clinical response was to corticosteroids and plasma exchange, and the poorest response was to IVIG. Long-term outcome is favorable in about 60% of cases.

Spinal angiolipoma: case report and literature review.

BACKGROUND/OBJECTIVE: Spinal angiolipoma (SAL) is an uncommon clinico-pathological entity. DESIGN: Single case report. METHODS: Retrospective data analysis. FINDINGS: An obese woman with a 1-year history of progressive spastic paraparesis and acute deterioration underwent magnetic resonance imaging of the thoracic spine, the results of which suggested a tumor compressing the thoracic spinal cord. The histopathological examination of the completely resected tumor revealed an epidural angiolipoma. CONCLUSIONS: This case report offers a reminder that SAL should be considered in the differential diagnosis of long-standing, slowly progressive paraparesis. It remains unclear whether an increased body mass index might be a contributing factor to the development of SAL.

Congenital Gaucher disease with nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis. Clinicopathologic report with enzymatic and genetic analysis.

The findings in a stillborn female fetus of 31 weeks' gestation with congenital Gaucher disease, nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis are presented, the first report of this complete constellation. Prior reports describe two similar patients. One lacked the hepatocellular features of giant cell hepatitis although manifesting hepatic fibrosis; the second lacked hepatic pathology. The diagnosis of Gaucher disease herein was established by microscopic examination of the proband, enzymatic analysis of trophoblast, and enzymatic and genetic study of the parents. The father was heterozygous for a recombinant glucocerebrosidase gene; the mother demonstrated a unique frame shift mutation. Thus the fetus is a compound heterozygote for a null and a severe mutation. Studies of parental DNA were negative for the D409H mutation of type IIIc Gaucher disease. Genetic studies were not performed of the ENPP1 gene, mutations of which are associated with idiopathic infantile arterial calcification.

Mutation analysis of the neurofilament M gene in Parkinson's disease.

Neurofilament M, a major component of Lewy bodies, represents an interesting candidate in the pathogenesis of Parkinson's disease (PD). We performed detailed mutation analyses of the NF-M gene in 322 familial and sporadic PD patients. Two polymorphisms (Ala475Thr and Gly697Arg) occurred at similar frequencies in PD patients and controls. A Pro725Gln substitution and a deletion of valine in position 829 were identified in two PD patients. These substitutions affect residues of the NF-M protein that are highly conserved among different species. None of our patients carried the Gly336Ser substitution, which has been described in familial PD. Our results argue against a major role of NF-M in PD. However, rare variants of the NF-M gene may act as susceptibility factors for PD and functional analyses of the identified variations are warranted to decipher possible mechanisms in neurodegeneration.