Altered Metabolic Homeostasis in Amyotrophic Lateral Sclerosis: Mechanisms of Energy Imbalance and Contribution to Disease Progression
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of motor neurones, which leads to paralysis and death in an average of 3 years following diagnosis. The cause of ALS is unknown, but there is substantial evidence that metabolic factors, including nutritional state and body weight, affect disease progression and survival. This review provides an overview of the characteristics of metabolic dysregulation in ALS focusing on mechanisms that lead to disrupted energy supply (at a whole-body and cellular level) and altered energy expenditure. We discuss how a decrease in energy su...
Source: Neurodegenerative Diseases - July 12, 2016 Category: Neurology Source Type: research
A Study of Aβ Oligomers in the Temporal Cortex and Cerebellum of Patients with Neuropathologically Confirmed Alzheimer's Disease Compared to Aged Controls
Conclusion: These results suggest that a putative dodecamer, near 55 kDa, may contribute to AD vulnerability of the TC.Neurodegener Dis 2016;16:398-406 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - July 11, 2016 Category: Neurology Source Type: research
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia
SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retardation. We hereby present the case of a 30-year-old female patient with complex autosomal recessive HSP with thinning of the corpus callosum (TCC) and dementia that was compound heterozygous with two novel mutations in the SPG11 gene. Sequence analysis of the SPG11 gene revealed two novel mutations in a compound heterozygous state in the index patient (c.2431C>T/p.Gln811Ter and c...
Source: Neurodegenerative Diseases - June 17, 2016 Category: Neurology Source Type: research
C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies
Conclusion: Our data illustrate that C9orf72 screening of clinically diagnosed DLB patients should only be considered in cases with a family history of motor neuron disease or frontotemporal dementia to distinguish between mimic diseases.Neurodegener Dis 2016;16:370-372 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 31, 2016 Category: Neurology Source Type: research
Human Basic Fibroblast Growth Factor Inhibits Tau Phosphorylation via the PI3K/Akt-GSK3β Signaling Pathway in a 6-Hydroxydopamine-Induced Model of Parkinson's Disease
Conclusion: Liposomes markedly assisted in the delivery of bFGF to the brain and enhanced the neuroprotective effects of bFGF by inhibiting the phosphorylation of tau. bFGF down-regulated the phosphorylation of tau by increasing the phosphorylation of GSK3β via the PI3K/Akt signaling pathway. These findings provide a new vision of bFGF as a potential therapy for PD.Neurodegener Dis 2016;16:357-369 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 26, 2016 Category: Neurology Source Type: research
Agomelatine Improves Apathy in Frontotemporal Dementia
Conclusions: Our data, albeit preliminary, suggest that agomelatine could represent a novel useful approach to the treatment of apathy in FTD patients.Neurodegener Dis 2016;16:352-356 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 26, 2016 Category: Neurology Source Type: research
Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay
Conclusion: This method extends the detection limit of large expanded alleles to at least ∼175-180 CAG repeats, thus reducing the likelihood of requiring Southern blot analysis for any HD-affected sample.Neurodegener Dis 2016;16:348-351 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 20, 2016 Category: Neurology Source Type: research
Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGFβ Signalling Pathway
Conclusions: The pan-neuronal expression of wild-type or mutant forms of hSETX induced morphological plasticity at neuromuscular junction (NMJ) synapses. Surprisingly, we found that while the NMJ synapses were increased in number, the neuronal function was normal. Analysis of signalling pathways revealed that hSETX modulates the Highwire (Hiw; a conserved neuronal E3 ubiquitin ligase)-dependent bone morphogenetic protein/TGFβ pathway. Thus, our study could pave the way for a better understanding of ALS4 progression by SETX through the regulation of neuronal E3 ubiquitin pathways.Neurodegener Dis 2016;16:324-336 (Source: N...
Source: Neurodegenerative Diseases - May 20, 2016 Category: Neurology Source Type: research
Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based Study
Conclusions: These findings provide objective evidence that reduced ambulatory activity is a shared feature across different NDDs. Moreover, they reveal that several underlying walking behavior components change with increasing disease duration, yet at a differing rate in different NDDs. This indicates that metric analysis of ambulatory activity might provide ecologically relevant and disease-specific progression and outcome markers in several NDDs.Neurodegener Dis 2016;16:317-323 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 20, 2016 Category: Neurology Source Type: research
Amyotrophic Lateral Sclerosis in Northern Spain 40 Years Later: What Has Changed
Conclusion: After 3 decades, the annual incidence of ALS has almost doubled in our region. We did not find significant differences regarding other clinical or epidemiological features.Neurodegener Dis 2016;16:337-341 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 19, 2016 Category: Neurology Source Type: research
Amyotrophic Lateral Sclerosis in Northern Spain 40 Years Later: What Has Changed?
Conclusion: After 3 decades, the annual incidence of ALS has almost doubled in our region. We did not find significant differences regarding other clinical or epidemiological features.Neurodegener Dis 2016;16:337-341 (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - May 18, 2016 Category: Neurology Source Type: research
Individual and Familial Susceptibility to MPTP in a Common Marmoset Model for Parkinson's Disease
Conclusion: Our findings show that low-dose MPTP treatment in marmosets represents a clinically relevant PD model, with a window of opportunity to examine the onset of the disease, allowing the detection of individual variability in disease susceptibility, which may be of relevance for the diagnosis and treatment of PD in humans.Neurodegener Dis (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - March 22, 2016 Category: Neurology Source Type: research
Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons
Conclusions: Our current study uncovered a direct role for maspardin in normal and EGF-induced growth and maturation of primary cortical neurons. The loss of maspardin resulted in attenuated growth, axonal branching, and attenuation of EGF signaling. Reinstating the functions of maspardin may reverse hind limb impairment associated with neuronal dysfunction in mast syndrome patients.Neurodegener Dis (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - March 15, 2016 Category: Neurology Source Type: research
FP-CIT- and IBZM-SPECT in Corticobasal Syndrome: Results from a Clinical Follow-Up Study
Conclusion: Our data indicate that in the early- to mid-stage CBS the degree of nigrostriatal impairment is only mild with a significant proportion of preserved dopamine transporter binding.Neurodegener Dis (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - March 15, 2016 Category: Neurology Source Type: research
Alteration of Motor Protein Expression Involved in Bidirectional Transport in Peripheral Blood Mononuclear Cells of Patients with Amyotrophic Lateral Sclerosis
Conclusion: In SALS, and especially in classic ALS, the changes in motor protein expression may alter bidirectional intracellular transport in PBMCs. More studies are needed to find out whether the levels of KIF5C and DCTN1 may be useful in ALS diagnosis, and whether KIF1B expression may discriminate ALS from ALS-mimicking disorders.Neurodegener Dis (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - March 9, 2016 Category: Neurology Source Type: research
