Contents Vol. 17, 2017.
Authors: PMID: 29241187 [PubMed - in process] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - December 15, 2017 Category: Neurology Tags: Neurodegener Dis Source Type: research

Acknowledgement to Reviewers.
Authors: PMID: 29241188 [PubMed - in process] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - December 15, 2017 Category: Neurology Tags: Neurodegener Dis 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. PMID: 29169178 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - November 24, 2017 Category: Neurology Authors: Piano C, Della Marca G, Losurdo A, Imperatori C, Solito M, Calandra-Buonaura G, Provini F, Cortelli P, Bentivoglio AR Tags: Neurodegener Dis 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 of C9orf72-linked ALS. hnRNPA3 warrants further investigation into the pathogenesis of ALS linked to C9orf72. This study also determined that HNRNP mutations are not a common cause of FALS and SALS in Australia. PMID: 29131108 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - November 11, 2017 Category: Neurology Authors: Fifita JA, Zhang KY, Galper J, Williams KL, McCann EP, Hogan AL, Saunders N, Bauer D, Tarr IS, Pamphlett R, Nicholson GA, Rowe D, Yang S, Blair IP Tags: Neurodegener Dis Source Type: research

Health Status Perspectives in Amyotrophic Lateral Sclerosis.
Abstract 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...
Source: Neuro-Degenerative Diseases - October 31, 2017 Category: Neurology Authors: Pinto S, de Carvalho M Tags: Neurodegener Dis Source Type: research

Huntington's Disease: Premotor Phase.
Abstract 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 symp...
Source: Neuro-Degenerative Diseases - October 27, 2017 Category: Neurology Authors: Ramos ARS, Garrett C Tags: Neurodegener Dis 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 of FUS 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. PMID: 29035885 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - October 17, 2017 Category: Neurology Authors: Lo Bello M, Di Fini F, Notaro A, Spataro R, Conforti FL, La Bella V Tags: Neurodegener Dis 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. PMID: 28881351 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - September 8, 2017 Category: Neurology Authors: Pilotto A, Gazzina S, Benussi A, Manes M, Dell'Era V, Cristillo V, Cosseddu M, Turrone R, Alberici A, Padovani A, Borroni B Tags: Neurodegener Dis 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. PMID: 28848105 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - August 25, 2017 Category: Neurology Authors: Zitser J, Thaler A, Inbar N, Gad A, Faust-Socher A, Paleacu D, Anca-Herschkovitch M, Balash Y, Shabtai H, Ash EL, Merkin L, Manor Y, Kestenbaum M, Bar David A, Peretz C, Naiman T, Bar-Shira A, Orr-Urtreger A, Dangoor N, Giladi N, Gurevich T Tags: Neurodegener Dis 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. PMID: 28848156 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - August 25, 2017 Category: Neurology Authors: Yoon JE, Kim JS, Jang W, Park J, Oh E, Youn J, Park S, Cho JW Tags: Neurodegener Dis 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. PMID: 28810250 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - August 16, 2017 Category: Neurology Authors: Ritz MF, Grond-Ginsbach C, Fluri F, Kloss M, Tolnay M, Peters N, Engelter S, Lyrer P Tags: Neurodegener Dis 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 Aβ 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. PMID: 28787714 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - August 9, 2017 Category: Neurology Authors: Wang Y, Yan T, Lu H, Yin W, Lin B, Fan W, Zhang X, Fernandez-Funez P Tags: Neurodegener Dis 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. PMID: 28787735 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - August 9, 2017 Category: Neurology Authors: Yao X, Wang D, Zhang L, Wang L, Zhao Z, Chen S, Wang X, Yue T, Liu Y Tags: Neurodegener Dis Source Type: research

Frontal Cortex and Hippocampal γ-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. PMID: 28743126 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - July 26, 2017 Category: Neurology Authors: Perez SE, Nadeem M, Malek-Ahmadi MH, He B, Mufson EJ Tags: Neurodegener Dis 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. PMID: 28719891 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - July 19, 2017 Category: Neurology Authors: D'Anna L, Abu-Rumeileh S, Fabris M, Pistis C, Baldi A, Sanvilli N, Curcio F, Gigli GL, D'Anna S, Valente M Tags: Neurodegener Dis 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. PMID: 28633139 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - June 21, 2017 Category: Neurology Authors: Krizova J, Stufkova H, Rodinova M, Macakova M, Bohuslavova B, Vidinska D, Klima J, Ellederova Z, Pavlok A, Howland DS, Zeman J, Motlik J, Hansikova H Tags: Neurodegener Dis Source Type: research

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
CONCLUSION: In this study, we report a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46. PMID: 28558379 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - May 31, 2017 Category: Neurology Authors: Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB Tags: Neurodegener Dis Source Type: research

Exploring Neural Efficiency in Multiple Sclerosis Patients during the Symbol Digit Modalities Test: A Functional Magnetic Resonance Imaging Study.
CONCLUSIONS: MS patients require more cognitive resources than HCs to achieve a normal SDMT performance, then revealing that they are less efficient regarding IPS capabilities. PMID: 28538226 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - May 25, 2017 Category: Neurology Authors: Fittipaldi-Márquez MS, Cruz-Gómez ÁJ, Sanchis-Segura C, Belenguer A, Ávila C, Forn C Tags: Neurodegener Dis Source Type: research

A Novel Ataxic Mutant Mouse Line Having Sensory Neuropathy Shows Heavy Iron Deposition in Kidney.
CONCLUSION: The affected mouse was characterized by heavy hind limb ataxia with gait disorder, which was first recognized at about 4 weeks of age and slowly progressed with advancing age. The phenotype was inherited in an autosomal recessive pattern. The genetic locus associated with the phenotype was named hak and mapped to 107,305,356-108,637,615 on chromosome 2qE3, non-coding sequences in the vicinity of Bdnf gene. Many spheroids were noticed in the cerebellar medulla and the brain stem. In the peripheral nerves, some sensory ganglionic cells showed deposition of NF-200 in the perikaryon and NF-200-positive spheroids in...
Source: Neuro-Degenerative Diseases - May 11, 2017 Category: Neurology Authors: Hashimoto H, Kawabe T, Fukuda T, Kusakabe M Tags: Neurodegener Dis Source Type: research

Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations.
CONCLUSIONS: Selenium compounds can impair tubulin synthesis and the cytoskeleton structure, as do tubulin-related gene mutations. The elevated selenium species levels in the TUBA4A patient may have a genetic etiology and/or represent a pathogenic pathway through which this mutation favors disease onset, though unmeasured confounding cannot be excluded. The elevated selenomethionine levels in the other patients are also of interest due to the toxicity of this nonphysiological selenium species. Our study is the first to assess selenium exposure in genetic ALS, suggesting an interaction between this environmental factor and ...
Source: Neuro-Degenerative Diseases - May 6, 2017 Category: Neurology Authors: Mandrioli J, Michalke B, Solovyev N, Grill P, Violi F, Lunetta C, Conte A, Sansone VA, Sabatelli M, Vinceti M Tags: Neurodegener Dis Source Type: research

Increased Risk of Bullous Pemphigoid after First-Ever Stroke: A Population-Based Study.
Abstract BACKGROUND: We hypothesize that autoantibodies are induced after the blood-brain barrier is damaged by stroke and the risk of bullous pemphigoid (BP) is increased after stroke. We assess the risk of BP after first-ever stroke in a nationwide population-based cohort of first-ever stroke patients. METHODS: We extracted data from the Longitudinal Health Insurance Database 2005 and identified patients with first-ever stroke as well as control patients matched for age, gender, and year of enrollment. The risk of BP in first-ever stroke patients in comparison with that in control patients was analyzed usin...
Source: Neuro-Degenerative Diseases - May 4, 2017 Category: Neurology Authors: Shen AL, Lin HL, Lin HC, Tseng YF, Hsu CY, Chou CY Tags: Neurodegener Dis Source Type: research

Neurodegeneration and the Cerebellum.
CONCLUSIONS: Altered cerebellum in neurodegeneration can provide important diagnostic and pathologic insights into both predicting disease progression and network dysfunction. PMID: 28463835 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - May 3, 2017 Category: Neurology Authors: Samson M, Claassen DO Tags: Neurodegener Dis Source Type: research

Patterns of Microglial Cell Activation in Alzheimer Disease and Frontotemporal Lobar Degeneration.
CONCLUSIONS: Our work expands the knowledge of the distribution and magnitude of microglial activation in these disorders. Additionally, we found some microglial circuit-specific patterns that could help to explain some of the clinical overlap between AD and FTLD-TDP, namely in memory deficits. PMID: 28445885 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - April 27, 2017 Category: Neurology Authors: Taipa R, Brochado P, Robinson A, Reis I, Costa P, Mann DM, Melo Pires M, Sousa N Tags: Neurodegener Dis Source Type: research

Home-Based Physical Behavior in Late Stage Parkinson Disease Dementia: Differences between Cognitive Subtypes.
e I Abstract BACKGROUND: For the early diagnosis of Parkinson disease dementia (PDD), objective home-based tools are needed to quantify even mild stages of dysfunction of the activities of daily living (ADL). OBJECTIVES: In this pilot study, home-based physical behavior was assessed to examine whether it is possible to distinguish mild cognitive impairment (PD-MCI) from PDD. METHODS: Fifty-five patients with mild to severe Parkinson disease (PD) participated in this cross-sectional study. Based on comprehensive neuropsychological testing, PD patients were classified as cognitively nonimpaired (PD-NC), PD...
Source: Neuro-Degenerative Diseases - April 26, 2017 Category: Neurology Authors: Cerff B, Maetzler W, Sulzer P, Kampmeyer M, Prinzen J, Hobert MA, Blum D, van Lummel R, Del Din S, Gräber S, Berg D, Liepelt-Scarfone I Tags: Neurodegener Dis Source Type: research

Mechanisms, Clinical Strategies, and Promising Treatments of Neurodegenerative Diseases. 13th International Conference AD/PDTM Vienna, Austria, March 29 to April 2, 2017: Abstracts.
Authors: PMID: 28297705 [PubMed - in process] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - March 18, 2017 Category: Neurology Tags: Neurodegener Dis Source Type: research

Patterns of Eye Movement Impairment Correlate with Regional Brain Atrophy in Neurodegenerative Parkinsonism.
k J Abstract BACKGROUND: One common feature of neurodegenerative parkinsonism including Parkinson's disease (PD), multisystem atrophy (MSA), and progressive supranuclear palsy (PSP) is altered eye movement control. Characteristic regional structural atrophy patterns in MRI can be observed in PD, MSA, and PSP. OBJECTIVE: To investigate the association between eye movement disturbances and regional brain atrophy in patients with PD, MSA, and PSP. METHODS: High-resolution 3-dimensional T1-weighted MRI images and video-oculographic recordings (EyeLink®) were obtained from 39 PD, 32 PSP, and 18 MSA patien...
Source: Neuro-Degenerative Diseases - March 8, 2017 Category: Neurology Authors: Vintonyak O, Gorges M, Müller HP, Pinkhardt EH, Ludolph AC, Huppertz HJ, Kassubek J Tags: Neurodegener Dis Source Type: research

Neuropsychiatric Symptoms in Alzheimer Disease, Vascular Dementia, and Mixed Dementia.
Abstract BACKGROUND/AIMS: Neuropsychiatric symptoms (NPS) are common in Alzheimer disease (AD) and vascular dementia (VaD), and are distressful to patients and caregivers. NPS are likely related to the underlying pathology. Previous studies suggest that frontal lobe lesions and vascular changes such as white matter hyperintensities (WMH) have a significant association with specific NPS. The current study aimed to compare NPS in patients with AD, VaD, and mixed AD/VaD, and to evaluate the differences in the prevalence of NPS in relation to frontal WMH volume. METHODS: In total, 180 patients with NPS and MRI da...
Source: Neuro-Degenerative Diseases - March 1, 2017 Category: Neurology Authors: Anor CJ, O'Connor S, Saund A, Tang-Wai DF, Keren R, Tartaglia MC Tags: Neurodegener Dis Source Type: research

Environmental and Occupational Exposures and Amyotrophic Lateral Sclerosis in New England.
CONCLUSIONS: Our study contributes to a growing body of literature implicating occupational- and hobby-related toxicant exposures in ALS etiology. These epidemiologic study results also provide motivation for future evaluation of water-body-related risk factors. PMID: 28122372 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - January 26, 2017 Category: Neurology Authors: Andrew AS, Caller TA, Tandan R, Duell EJ, Henegan PL, Field NC, Bradley WG, Stommel EW Tags: Neurodegener Dis Source Type: research

Identification of Small Peptides in Human Cerebrospinal Fluid upon Amyloid- β Degradation.
CONCLUSION: Our results indicate that a substantial amount of Aβ40 in human brains is degraded via a neprilysin- or insulin-degrading enzyme-independent pathway. PMID: 28103595 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - January 20, 2017 Category: Neurology Authors: Mizuta N, Yanagida K, Kodama T, Tomonaga T, Takami M, Oyama H, Kudo T, Ikeda M, Takeda M, Tagami S, Okochi M Tags: Neurodegener Dis Source Type: research

Granulocyte Colony-Stimulating Factor Ameliorates Skeletal Muscle Dysfunction in Amyotrophic Lateral Sclerosis Mice and Improves Proliferation of SOD1-G93A Myoblasts in vitro.
CONCLUSION: Our results support the beneficial role of the G-CSF analog PEGF in a SOD1-G93A model of ALS. Thus, G-CSF and its analogs may be directly beneficial in diseases where the SKM function is compromised. PMID: 27544379 [PubMed - in process] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - November 2, 2016 Category: Neurology Authors: Rando A, Gasco S, de la Torre M, García-Redondo A, Zaragoza P, Toivonen JM, Osta R Tags: Neurodegener Dis Source Type: research

The Prognostic Role of Obstructive Sleep Apnea at the Onset of Amyotrophic Lateral Sclerosis.
sta O Abstract BACKGROUND/OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the progressive loss of central and peripheral motor neurons. Some studies have found discordant data in the presence of sleep apnea in ALS patients. An obstructive component also occurs with upper airways hypotonia and muscle weakness that may result in an excessive reduction of airway lumen, leading to obstructive sleep apnea (OSA). The aim of this study was to assess the role of obstructive apneic events at disease onset in the ALS prognosis. METHODS: A longitudinal retrospective study w...
Source: Neuro-Degenerative Diseases - November 2, 2016 Category: Neurology Authors: Quaranta VN, Carratù P, Damiani MF, Dragonieri S, Capozzolo A, Cassano A, Resta O Tags: Neurodegener Dis Source Type: research

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.
CONCLUSION: The dramatic increase in mitochondrial activity in lymphoblasts from PM carriers may represent either the early stages of disease (specific alterations in short-lived blood cells) or an activation of the lymphocytes under pathological situations. These changes may provide early, convenient blood biomarkers of clinical involvements. PMID: 27602566 [PubMed - in process] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - November 2, 2016 Category: Neurology Authors: Loesch DZ, Annesley SJ, Trost N, Bui MQ, Lay ST, Storey E, De Piazza SW, Sanislav O, Francione LM, Hammersley EM, Tassone F, Francis D, Fisher PR Tags: Neurodegener Dis Source Type: research

Arterial Stiffness and Cardiovascular Autonomic Dysfunction in Patients with Parkinson's Disease.
CONCLUSION: These findings suggest that cardiovascular autonomic dysfunction is associated with arterial stiffness in PD. PD itself does not affect arterial stiffness, whereas autonomic blood pressure disturbances influence alterations in arterial stiffness and architectural changes in the arteries of PD patients. PMID: 27784025 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - October 27, 2016 Category: Neurology Authors: Kim JS, Lee SH, Oh YS, Park JW, An JY, Choi HS, Lee KS Tags: Neurodegener Dis Source Type: research

Cl-NQTrp Alleviates Tauopathy Symptoms in a Model Organism through the Inhibition of Tau Aggregation-Engendered Toxicity.
Abstract Alzheimer's disease (AD) is the most abundant tauopathy and is characterized by Aβ-derived plaques and tau-derived tangles, resulting from the unfolding of the corresponding monomeric subunits into ordered β-sheet oligomers and fibrils. Intervening in the toxic aggregation process is a promising therapeutic approach, but, to date, a disease-modifying therapy is neither available for AD nor for other tauopathies. Along these lines, we have previously demonstrated that a small naphthoquinone-tryptophan hybrid, termed NQTrp, is an effective modulator of tauopathy in vitro and in vivo. However, NQTr...
Source: Neuro-Degenerative Diseases - October 20, 2016 Category: Neurology Authors: Frenkel-Pinter M, Tal S, Scherzer-Attali R, Abu-Hussien M, Alyagor I, Eisenbaum T, Gazit E, Segal D Tags: Neurodegener Dis Source Type: research

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.
CONCLUSIONS: Our results indicate that central nervous progranulin reduction is not restricted to the relatively rare cases of FTD caused by GRN LoF mutations, but also contributes to the more common GRN-negative forms of FTD. Central nervous progranulin reduction might reflect a partially distinct pathogenic mechanism underlying FTD neurodegeneration and is not directly linked to tau alterations. PMID: 27760429 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - October 20, 2016 Category: Neurology Authors: Wilke C, Gillardon F, Deuschle C, Hobert MA, Jansen IE, Metzger FG, Heutink P, Gasser T, Maetzler W, Blauwendraat C, Synofzik M Tags: Neurodegener Dis Source Type: research

Visual Hallucination and Pattern of Brain Degeneration in Parkinson's Disease.
CONCLUSIONS: Gray matter degenerations from the parieto-temporal junction to the parieto-occipital and temporo-occipital regions may be responsible for VH on the typical timeline of PD progression. PMID: 27760431 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - October 20, 2016 Category: Neurology Authors: Lee WW, Yoon EJ, Lee JY, Park SW, Kim YK Tags: Neurodegener Dis Source Type: research

Voltage-Gated Potassium Channel Antibodies in Slow-Progression Motor Neuron Disease.
CONCLUSION: Although VGKC-complex Abs are not likely to be pathogenic, these results could reflect the coexistence of an immunological activation in patients with slow disease progression. PMID: 27710962 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - October 7, 2016 Category: Neurology Authors: Godani M, Zoccarato M, Beronio A, Zuliani L, Benedetti L, Giometto B, Del Sette M, Raggio E, Baldi R, Vincent A Tags: Neurodegener Dis Source Type: research

Brain-Derived Neurotrophic Factor Facilitates Functional Recovery from ALS-Cerebral Spinal Fluid-Induced Neurodegenerative Changes in the NSC-34 Motor Neuron Cell Line.
CONCLUSION: Our study provides evidence that BDNF supplementation ameliorates most but not all degenerative changes. The incomplete revival at the ultrastructural level signifies the requirement of factors other than BDNF for near-total protection of motor neurons, and, to an extent, it explains why only a partial success is achieved in clinical trials with BDNF in ALS patients. PMID: 27617773 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - September 13, 2016 Category: Neurology Authors: Shruthi S, Sumitha R, Varghese AM, Ashok S, Chandrasekhar Sagar BK, Sathyaprabha TN, Nalini A, Kramer BW, Raju TR, Vijayalakshmi K, Alladi PA Tags: Neurodegener Dis Source Type: research

Clinical Impact of 123I-Ioflupane SPECT (DaTscan) in a Movement Disorder Center.
Abstract BACKGROUND/AIMS: The clinical diagnosis of degenerative forms of parkinsonism is imperfect, with past studies reporting a high rate of misdiagnosis by neurologists and movement disorder specialists, particularly early in the disease course. 123I-ioflupane SPECT (DaTscan) is a diagnostic neuroimaging tool used to distinguish essential tremor from tremor due to degenerative parkinsonisms. The present study expands upon prior studies of the clinical impact of DaTscan imaging in movement disorder centers by assessing quantitative estimates of diagnostic certainty, the impact on subsequent clinical decisions, ...
Source: Neuro-Degenerative Diseases - September 10, 2016 Category: Neurology Authors: Graebner AK, Tarsy D, Shih LC, Vanderhorst V, Kulkarni O, Kaplan S, Simon DK Tags: Neurodegener Dis Source Type: research

Differential Progression of Midbrain Atrophy in Parkinsonism: Longitudinal MRI Study.
CONCLUSIONS: Midbrain atrophy progresses differentially in patients with PSP-RS, PSP-P, and PD. Longitudinal measurements of midbrain atrophy using MRI-based visual rating indexes can help distinguish patients with PSP-P from those with PSP-RS and PD. PMID: 27614955 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - September 10, 2016 Category: Neurology Authors: Hwang M, Yang H, Kim Y, Youn J, Park J, Huh YE, Kim HT, Cho JW Tags: Neurodegener Dis Source Type: research

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.
CONCLUSION: The dramatic increase in mitochondrial activity in lymphoblasts from PM carriers may represent either the early stages of disease (specific alterations in short-lived blood cells) or an activation of the lymphocytes under pathological situations. These changes may provide early, convenient blood biomarkers of clinical involvements. PMID: 27602566 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - September 8, 2016 Category: Neurology Authors: Loesch DZ, Annesley SJ, Trost N, Bui MQ, Lay ST, Storey E, De Piazza SW, Sanislav O, Francione LM, Hammersley EM, Tassone F, Francis D, Fisher PR Tags: Neurodegener Dis Source Type: research

The Prognostic Role of Obstructive Sleep Apnea at the Onset of Amyotrophic Lateral Sclerosis.
sta O Abstract BACKGROUND/OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the progressive loss of central and peripheral motor neurons. Some studies have found discordant data in the presence of sleep apnea in ALS patients. An obstructive component also occurs with upper airways hypotonia and muscle weakness that may result in an excessive reduction of airway lumen, leading to obstructive sleep apnea (OSA). The aim of this study was to assess the role of obstructive apneic events at disease onset in the ALS prognosis. METHODS: A longitudinal retrospective study w...
Source: Neuro-Degenerative Diseases - September 6, 2016 Category: Neurology Authors: Quaranta VN, Carratù P, Damiani MF, Dragonieri S, Capozzolo A, Cassano A, Resta O Tags: Neurodegener Dis Source Type: research

Granulocyte Colony-Stimulating Factor Ameliorates Skeletal Muscle Dysfunction in Amyotrophic Lateral Sclerosis Mice and Improves Proliferation of SOD1-G93A Myoblasts in vitro.
CONCLUSION: Our results support the beneficial role of the G-CSF analog PEGF in a SOD1-G93A model of ALS. Thus, G-CSF and its analogs may be directly beneficial in diseases where the SKM function is compromised. PMID: 27544379 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - August 20, 2016 Category: Neurology Authors: Rando A, Gasco S, de la Torre M, García-Redondo A, Zaragoza P, Toivonen JM, Osta R Tags: Neurodegener Dis Source Type: research

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study.
Abstract BACKGROUND: Behavioral and cognitive impairment are common in amyotrophic lateral sclerosis (ALS) and represent a continuum with frontotemporal dementia (FTD). Olfactory dysfunction has been described in a subset of ALS patients and might be associated with frontotemporal and insular cortex dysfunction. OBJECTIVE: To evaluate olfaction dysfunction in ALS patients and its relationship with either cognition or behavioral impairment. METHODS: 28 consecutive ALS patients underwent an extensive cognitive and behavioral battery and were classified as patients with normal cognition (ALS-N, n = 11) or w...
Source: Neuro-Degenerative Diseases - August 6, 2016 Category: Neurology Authors: Pilotto A, Rossi F, Rinaldi F, Compostella S, Cosseddu M, Borroni B, Filosto M, Padovani A Tags: Neurodegener Dis Source Type: research

Using High-Field Magnetic Resonance Imaging to Estimate Distensibility of the Middle Cerebral Artery.
CONCLUSION: These results lead to the first noninvasive image-based estimation of distensibility of the MCA (approx. 5.8 × 10-4 mm Hg-1) and demonstrate that ultra-high-field MRI could be a promising tool for investigating distensibility of intracranial arteries in relation to cerebrovascular pathology. PMID: 27449212 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - July 23, 2016 Category: Neurology Authors: Warnert EA, Verbree J, Wise RG, van Osch MJ Tags: Neurodegener Dis Source Type: research

A Study of A β 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. PMID: 27400224 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - July 12, 2016 Category: Neurology Authors: Savioz A, Giannakopoulos P, Herrmann FR, Klein WL, Kövari E, Bouras C, Giacobini E Tags: Neurodegener Dis 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. PMID: 27400224 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - July 12, 2016 Category: Neurology Authors: Savioz A, Giannakopoulos P, Herrmann FR, Klein WL, Kövari E, Bouras C, Giacobini E Tags: Neurodegener Dis Source Type: research

Altered Metabolic Homeostasis in Amyotrophic Lateral Sclerosis: Mechanisms of Energy Imbalance and Contribution to Disease Progression.
Abstract 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 dec...
Source: Neuro-Degenerative Diseases - July 12, 2016 Category: Neurology Authors: Ioannides ZA, Ngo ST, Henderson RD, McCombe PA, Steyn FJ Tags: Neurodegener Dis Source Type: research

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.
ve; A Abstract 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.2...
Source: Neuro-Degenerative Diseases - June 18, 2016 Category: Neurology Authors: Fraidakis MJ, Brunetti M, Blackstone C, Filippi M, Chiò A Tags: Neurodegener Dis 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. PMID: 27241037 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - May 31, 2016 Category: Neurology Authors: Geiger JT, Arthur KC, Dawson TM, Rosenthal LS, Pantelyat A, Albert M, Hillis AE, Crain B, Pletnikova O, Troncoso JC, Scholz SW Tags: Neurodegener Dis Source Type: research