2008 EHR Vendor Report Published

Background: Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). We evaluated the association of the MAPT region with PD in a large cohort of familial PD cases recruited by the GenePD Study. In addition, postmortem brain samples from patients with PD and neurologically normal controls were used to evaluate whether the expression of the 3-repeat and 4-repeat isoforms of MAPT, and neighboring genes Saitohin (STH) and KIAA1267, are altered in PD cerebellum.Methods: Twenty-one single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 were genotyped in the GenePD Study. Single SNPs and haplotypes, including the H1 haplotype, were evaluated for association to PD. Relative quantification of gene expression was performed using real-time RT-PCR.Results: After adjusting for multiple comparisons, SNP rs1800547 was significantly associated with PD affection. While the H1 haplotype was associated with a significantly increased risk for PD, a novel H1 subhaplotype was identified that predicted a greater increased risk for PD. The expression of 4-repeat MAPT, STH, and KIAA1267 was significantly increased in PD brains relative to controls. No difference in expression was observed for 3-repeat MAPT.Conclusions: This study supports a role for MAPT in the pathogenesis of familial and idiopathic Parkinson disease (PD). Interestingly, the results of the gene expression studies suggest that other genes in the vicinity of MAPT, specifically STH and KIAA1267, may also have a role in PD and suggest complex effects for the genes in this region on PD risk.(C)2008AAN Enterprises, Inc.

Spinal cord syndromes are "unique" clinical presentations that localize lesions to the spinal cord by their pattern of anatomic dysfunction while implying their underlying etiology. Recognizing these patterns and their significance is best accomplished by relearning and appreciating the relevant anatomy and relationships, which are the major focus of this review. This clinical-anatomic background will provide the framework for the clinical topics that follow in this issue.(C) 2008 American Academy of Neurology

Inflammatory and infectious myelopathies are common and often treatable. Infectious causes include viral, bacterial, mycobacterial, fungal, and parasitic agents. Noninfectious inflammatory myelopathies were previously often categorized as idiopathic transverse myelitis, but advances in neuroimaging and the discovery of a serum autoantibody marker, neuromyelitis optica immunoglobulin G (NMO-IgG), have allowed more specific diagnoses, such as multiple sclerosis and neuromyelitis optica, to be made more confidently and at an earlier stage than previously possible. This chapter summarizes an approach to evaluation and management of infectious and inflammatory causes of acute and subacute myelitis and chronic progressive myelopathy.(C) 2008 American Academy of Neurology