eNeurologicalScieNeurologicalSci Vol 1, Issue 1

March 2015 | Pages 1-20


Welcome to eNeurologicalSci (eNS)!

Bruce Ovbiagele

Neurology is now well beyond being just a great specialty with a logical approach to a varied spectrum of interesting disorders. Gratifyingly, decades of nihilism in neurologic care have been replaced with a sense of buoyancy, as rapidly emerging data foster improved understanding of pathophysiology and resolve longstanding clinical equipoise surrounding many therapeutic interventions. Also, technological progress in media communication has grown in leaps and bounds thereby allowing quicker dissemination and broader discussion of seminal research findings.



Diversity of approaches in assessment of executive functions in stroke: Limited evidence?

Juliana Conti, Annette Sterr, Sônia Maria Dozzi Brucki, Adriana B. Conforto

Stroke is a leading cause of disability worldwide. Cognitive functions and, in particular, executive function, are commonly affected after stroke, leading to impairments in performance of daily activities, decrease in social participation and in quality of life. Appropriate assessment and understanding of executive dysfunction are important, firstly to develop better rehabilitation strategies for executive functions per se and secondly to consider executive function abilities on rehabilitation strategies in general.


Original Article

Interaction between SNCA, LRRK2 and GAK increases susceptibility to Parkinson's disease in a Chinese population

Wen-Juan Yu, Lan Cheng, Nan-Nan Li, Ling Wang, Eng-King Tan, Rong Peng

PD is a complex disease, and may result from gene–gene and gene–environment interactions. There are limited studies on gene–gene interactions in PD. We and others have previously shown that SNCA rs356219, LRRK2 (rs2046932 and rs7304279) and GAK (rs1564282) are risk factors in sporadic PD. Since the expression of SNCA and neurotoxicity of alpha-synuclein are affected by LRRK2 and GAK, we hypothesize that their genetic risk variants may interact with each other. Here we investigated the interaction of SNCA rs356219, LRRK2rs7304279 and rs2046932 and GAK rs1564282 using the Multifactor Dimensionality Reduction (MDR) in a Chinese PD patient–control series (534 patients and 435 controls) and the cumulative risk effect of SNCA, LRRK2 and GAK.


Case Report

A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression

Sakiho Ueda, Hirofumi Yamashita, Ryota Hikiami, Nobukatsu Sawamoto, Kunihiro Yoshida, Ryosuke Takahashi

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant white matter disease that causes adult-onset cognitive impairment. The clinical manifestations are a variable combination of personality and behavioral changes, cognitive decline, parkinsonism, spasticity, and epilepsy. In 2012, mutations in the gene encoding colony stimulating factor 1 receptor (CSF1R) were identified as the cause of HDLS. As the numbers of reported mutations are limited, the understanding of whole pathogenesis needs accumulation of disease-causing mutations with detailed clinical descriptions.


Letter to the Editor

Aphasia in multilingual individuals: The importance of bedside premorbid language proficiency assessment

Alain Lekoubou, Ezequiel Gleichgerrcht, Katlyn McGrattan, David L. Bachman, Robert J. Adams, Leonardo Bonilha

With increased rates of "globalization", the proportion of individuals who speak more than one language is rapidly expanding, with a projected number of 47 million US citizens speaking at least two languages by 2030 [1]. As a result, language impairment in multilingual persons is likely to become a frequent clinical challenge. Multilingual brains do not merely function as multiple, simultaneous monolingual brains coexisting in one individual [2,3]. Multilingual patients with acquired speech problems may present clinical nuances that underscore the relationship between anatomical lesions and subtypes of language deficits, both in the first as well as in their second languages.