Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum

We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life. Our case highlights the need to consider forms of atypical parkinsonism such as CBS in addition to PD in the differential diagnosis of cognitive and motor changes in patients with GD type 1. We also recommend careful assessment and routine monitoring of cognition, mood, behavior, sleep patterns, olfaction, and memory in patients with GD type 1 to identify early symptoms indicative of neurological involvement.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research

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Abstract Background: Spathe of phoenix dactylifera is hard-covering envelope of date palm which is mentioned as a nerve relief in ancient medicine books. In this experiment, three extract doses used in sleeping time, sedative efficacy, and electroencephalography (EEG) protocol to show different aspects of extract effects on sleep. Materials and Methods: In three sleeping time, anesthesia time and EEG experiment protocols test group containing three extract doses (62.5, 125, and 250 mg/kg) were compared with saline control group, and in sleeping time experiment control group contained intact, midazolam, and sa...
Source: Biomed Res - Category: Research Authors: Tags: Adv Biomed Res Source Type: research
Publication date: Available online 23 April 2019Source: NeuroImageAuthor(s): Hossein Sohanian Haghighi, Amir H.D. MarkaziAbstractSpike and wave discharges are the main electrographic characteristic of a number of epileptic brain disorders including childhood absence epilepsy and photosensitive epilepsy. The basic dynamic mechanism that underlies the occurrence of these abnormal electrical patterns in the brain is not well understood. The current paper aims to provide a dynamic explanation for features and generation mechanism of spike and wave discharges in the brain. The main proposition of this study is that epileptic se...
Source: NeuroImage - Category: Neuroscience Source Type: research
Source: St. Michael's Hospital News and Media - Category: Hospital Management Tags: Hospital News Source Type: news
Conclusions: This study demonstrated a rapid improvement of many symptoms in the subacute post-operative period in pituitary tumor patients. Disturbed sleep was identified as the only symptom to worsen post-operatively, encouraging potential prospective interventions to improve sleep, and subsequently improve the QOL in pituitary tumor patients following surgical intervention. Introduction Pituitary tumors are relatively rare primary central nervous system (CNS) tumors in adults (1) but make up 10% of all neurosurgical interventions in the United States (2). They are often an incidental finding in autopsies and brain...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Sonia Baig1‡, Ehsan Parvaresh Rizi1,2‡, Chelsea Chia3, Muhammad Shabeer1, Nweni Aung1, Tze Ping Loh4, Faidon Magkos5,6†, Antonio Vidal-Puig7, Raymond C. S. Seet1,2, Chin Meng Khoo1,2§ and Sue-Anne Toh1,2,8,9*§ 1Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore 2Department of Medicine, National University Health System, Singapore, Singapore 3Trinity College Dublin, University of Dublin, Dublin, Ireland 4Department of Laboratory Medicine, National University Health System, Singapore, Singapore 5Department of Physiology, Yo...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
In conclusion, these results indicated that loganin produced beneficial sedative and hypnotic activity, which might be mainly mediated by modification of the serotonergic system and GABAergic neurons. Introduction Insomnia is referred to as continuous difficulty in initiating or maintaining sleep, which can induce extreme medical and psychiatric disorders (Cao et al., 2016). It was reported that 27 percent of people in the world suffering from insomnia (Doghramji, 2006), and approximately 3–10 percent of people would frequently depend on hypnotics to overcome insomnia by 2050 (Chu et al., 2007). Clinically, b...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Da-Bu-Yin-Wan and Qian-Zheng-San Ameliorate Mitochondrial Dynamics in the Parkinson’s Disease Cell Model Induced by MPP+ Cong Gai1†, Wan-Di Feng1†, Tian-Yao Qiang1, Hao-Jie Ma1, Yuan Chai1, Shu-Jing Zhang2, Zhen-Yu Guo1, Jing-Hong Hu2 and Hong-Mei Sun1* 1Department of Anatomy, School of Preclinical Medicine, Beijing University of Chinese Medicine, Beijing, China 2Center for Scientific Research, School of Preclinical Medicine, Beijing University of Chinese Medicine, Beijing, China To investigate the effect of Da-Bu-Yin-Wan and Qian-Zheng-San (DBYW and QZS) on mitochondrial mass in Parkinson&rsq...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 29920646 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
To the Editor In a study published in JAMA Neurology, Beavan et al reported a 2-year follow-up study of 30 patients with a diagnosis of type 1 Gaucher disease, 28 heterozygous glucocerebrosidase gene (GBA) mutation carriers, and 26 control individuals. It is well known that GBA mutations are a confirmed genetic risk for developing Parkinson disease (PD). Previously, Winder-Rhodes et al found that GBA mutations were present at a frequency of 3.5% in a UK PD population, confirming the important contribution of this gene in the clinical progression of PD. Indeed, the authors found that the hazard ratio for progression both to...
Source: JAMA Neurology - Category: Neurology Source Type: research
Conclusions: Continued longitudinal evaluation of patients with Gaucher disease and heterozygous carriers of GBA1 mutations may help identify a pre-motor phase in this cohort at risk of developing parkinsonism. This pre-motor profile may suggest specific neurotransmitters involved in neurodegeneration and contribute to a better understanding of the association between lysosomal dysfunction and alpha-synuclein aggregation.Disclosure: Dr. Kim has nothing to disclose. Dr. Cintron has nothing to disclose. Dr. Wiggs has nothing to disclose. Dr. Groden has nothing to disclose. Dr. Sidransky has nothing to disclose. Dr. Lopez has...
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Genetics Source Type: research
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