Contents Vol. 17, 2017
Neurodegener Dis 2017;17:I-IV (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - December 14, 2017 Category: Neurology Source Type: research
Subjective Assessment of Sleep in Huntington Disease: Reliability of Sleep Questionnaires Compared to Polysomnography
Discussion: All comparisons between scale scores and PSG results showed poor or totally absent concordance between subjective and objective measures.Significance: The subjective evaluation of sleep in HD patients shows a poor correlation with PSG results.Neurodegener Dis 2017;17:330-337 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - November 23, 2017 Category: Neurology Source Type: research
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis
Conclusions: hnRNPA3 pathology was identified in motor neurons of ALS patients with C9orf72 repeat expansions, implicating hnRNPA3 in the pathogenesis ofC9orf72-linked ALS. hnRNPA3 warrants further investigation into the pathogenesis of ALS linked toC9orf72. This study also determined thatHNRNP mutations are not a common cause of FALS and SALS in Australia.Neurodegener Dis 2017;17:304-312 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - November 10, 2017 Category: Neurology Source Type: research
Health Status Perspectives in Amyotrophic Lateral Sclerosis
Background/Aims: The global perception of the health status (HS) of amyotrophic lateral sclerosis (ALS) patients before the initial diagnosis has not been addressed previously.Methods: We recorded the following at the first visit, before diagnostic information: (1) visual analog scale (VAS) of the EQ-5D; (2) the revised ALS functional rating scale (ALSFRS- R), bulbar (ALSFRSb), upper limb (ALSFRSul), lower limb (ALSFRSll), and respiratory (RofALSFRS-R) subscores; and (3) forced and slow vital capacities. Correlations were tested by the Pearson correlation test. Variables were compared between groups defined by the VAS medi...
Source: Neurodegenerative Diseases - October 30, 2017 Category: Neurology Source Type: research
Huntington's Disease: Premotor Phase
Huntington's disease (HD) is an incurable, neurodegenerative disease, which manifests via a triad of progressive symptoms: motor impairment, psychiatric disorders, and cognitive decline. Conventionally, the HD diagnosis is based on the presence of involuntary choreiform movements and a positive genetic test for the CAG-expanded allele gene. Although the diagnosis focuses on the motor part of the triad, there is increasing evidence that both cognitive and neuropsychiatric symptoms can, and often do, present decades before the onset of motor symptoms. In this paper, we review the evidence regarding the symptoms in the HD pre...
Source: Neurodegenerative Diseases - October 26, 2017 Category: Neurology Source Type: research
Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs
Conclusions: Our results suggest a link between the gain of toxic function of mutated huntingtin in TgHD spermatozoa and the observed MM and/or glycolytic impairment. We determined 4 biomarkers useful for HD phenotyping and experimental therapy monitoring studies in TgHD minipigs.Neurodegener Dis 2017;17:213-226 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Serum Interleukin-10 Levels Correlate with Cerebrospinal Fluid Amyloid Beta Deposition in Alzheimer Disease Patients
Conclusion: Our findings indicate that serum levels of IL-10 may represent a possible peripheral expression of amyloid beta deposition in AD patients.Neurodegener Dis 2017;17:227-234 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Frontal Cortex and Hippocampal & #x03B3;-Secretase Activating Protein Levels in Prodromal Alzheimer Disease
Conclusions: These data demonstrate that GSAP proteins are differentially dysregulated in severe AD, but only the full-length form was associated with cognitive test scores in AD.Neurodegener Dis 2017;17:235-241 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Serum Growth Differentiation Factor 15 in Parkinson Disease
Conclusion: GDF15 may be a potential biomarker for the diagnosis and monitoring of motor severity in PD.Neurodegener Dis 2017;17:251-260 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Lessons from Anti-Amyloid- β Immunotherapies in Alzheimer Disease: Aiming at a Moving Target
Conclusions: Despite the overall disappointing results, there is still hope that A β immunotherapy in presymptomatic patients will prevent neuronal loss and provide significant clinical benefits that can be applied to larger populations as preventive therapies. Advances with other targets may soon provide additional therapeutic options for AD with increased efficacy.Neurodegener Dis 2017;17:242-250 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Cerebral Small Vessel Disease Is Associated with Dysregulation in the Ubiquitin Proteasome System and Other Major Cellular Pathways in Specific Brain Regions
Conclusion: This analysis deciphers brain region-specific molecular processes to increase the present knowledge of SVD pathology and determine new potential therapeutic targets.Neurodegener Dis 2017;17:261-275 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Two Ethnic Clusters with Huntington Disease in Israel: The Case of Mountain Jews and Karaites
Conclusion: We detected clustering of HD among the population treated at our Medical Center, which has the only specialized HD clinic in the country, with a high percentage of HD among 2 relatively small subpopulations of Jews: Mountain Jews and Karaites.Neurodegener Dis 2017;17:281-285 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Gender Differences of Nonmotor Symptoms Affecting Quality of Life in Parkinson Disease
Conclusions: Gender differences of an association between HRQoL and NMSs exist in PD. We found that fatigue and depression were the main determinants of poor HRQoL in female patients even in the early stages. We suggest that a gender-specific therapeutic approach is important, and it is necessary to pay special attention to the predictors associated with causing poor HRQoL.Neurodegener Dis 2017;17:276-280 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
Mild Cognitive Impairment and Progression to Dementia in Progressive Supranuclear Palsy
Conclusion: Cognitive decline occurs in a great proportion of PSP-RS patients early during the disease course. In the absence of a specific phenotype, the diagnosis of MCI might identify PSP patients at greatest risk of developing dementia and should be considered further in the diagnostic assessment.Neurodegener Dis 2017;17:286-291 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers
Conclusions: We show that in fibroblasts ofFUS P525L mutation carriers, FUS mislocalized to the cytoplasm where it redistributed into stress granules with likely a dose effect, i.e. a higher number of cells with granules, which persist longer, than in controls and ALS cases. These data represent an early molecular change occurring before ALS onset, suggesting a transient preaggregative state.Neurodegener Dis 2017;17:292-303 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - October 25, 2017 Category: Neurology Source Type: research
