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Journal of Neural Transmission

L Brabenec, J Mekyska, Z Galaz, Irena Rektorova
Hypokinetic dysarthria (HD) occurs in 90% of Parkinson's disease (PD) patients. It manifests specifically in the areas of articulation, phonation, prosody, speech fluency, and faciokinesis. We aimed to systematically review papers on HD in PD with a special focus on (1) early PD diagnosis and monitoring of the disease progression using acoustic voice and speech analysis, and (2) functional imaging studies exploring neural correlates of HD in PD, and (3) clinical studies using acoustic analysis to evaluate effects of dopaminergic medication and brain stimulation...
January 18, 2017: Journal of Neural Transmission
Yoshikuni Mizuno, Satoe Shimoda, Hideki Origasa
We report a long-term treatment of Parkinson's disease in out-patient clinics. The patients with Parkinson's disease were evaluated at the time of clinic visit from September 1st, 2015 to February 29th, 2016. Total number of the patients was 498. The age at the evaluation was 69.9 ± 9.3 years and the age of onset was 60.2 ± 11.3. Hoehn and Yahr severity was 3.28 ± 0.94 in patients who were from 16 to 20 years (n = 53) and 3.00 ± 0.86 in patients from 21 years or more (n = 38) from the onset of the disease to the evaluation...
January 16, 2017: Journal of Neural Transmission
Jelena Karanović, Maja Ivković, Vladimir M Jovanović, Saša Šviković, Maja Pantović-Stefanović, Miloš Brkušanin, Aleksandar Damjanović, Goran Brajušković, Dušanka Savić-Pavićević
Suicidal behavior has been associated with a deficient serotonin neurotransmission which is likely a consequence of individual genetic architecture, exposure to environmental factors and interactions of those factors. We examined whether the interaction of child abuse, TPH2 (tryptophan hydroxylase 2) variant rs4290270, affecting alternative splicing and editing of TPH2 pre-mRNAs, and ADARB1 (adenosine deaminase acting on RNA B1) variants rs4819035 and rs9983925 may influence the risk for suicide attempt in psychiatric patients...
January 13, 2017: Journal of Neural Transmission
C Karachi, Chantal Francois
Patients with Parkinson's disease (PD) develop cardinal motor symptoms, including akinesia, rigidity, and tremor, that are alleviated by dopaminergic medication and/or subthalamic deep brain stimulation. Over the time course of the disease, gait and balance disorders worsen and become resistant to pharmacological and surgical treatments. These disorders generate debilitating motor symptoms leading to increased dependency, morbidity, and mortality. PD patients also experience sleep disturbance that raise the question of a common physiological basis...
January 13, 2017: Journal of Neural Transmission
Kenta Kobayashi, Shigeki Kato, Kazuto Kobayashi
To understand the mechanisms underlying higher brain functions, we need to analyze the roles of specific neuronal pathways or cell types forming the complex neural networks. In the neuroscience field, the transgenic approach has provided a useful gene engineering tool for experimental studies of neural functions. The conventional transgenic technique requires the appropriate promoter regions that drive a neuronal type-specific gene expression, but the promoter sequences specifically functioning in each neuronal type are limited...
January 5, 2017: Journal of Neural Transmission
Lars Oreland, Gianvito Lagravinese, Simone Toffoletto, Kent W Nilsson, Jaanus Harro, C Robert Cloninger, Erika Comasco
Genetic and environmental interactive influences on predisposition to develop alcohol use disorder (AUD) account for the high heterogeneity among AUD patients and make research on the risk and resiliency factors complicated. Several attempts have been made to identify the genetic basis of AUD; however, only few genetic polymorphisms have consistently been associated with AUD. Intermediate phenotypes are expected to be in-between proxies of basic neuronal biological processes and nosological symptoms of AUD...
January 4, 2017: Journal of Neural Transmission
Benedikt Sundermann, Stephan Feder, Heike Wersching, Anja Teuber, Wolfram Schwindt, Harald Kugel, Walter Heindel, Volker Arolt, Klaus Berger, Bettina Pfleiderer
In small, selected samples, an approach combining resting-state functional connectivity MRI and multivariate pattern analysis has been able to successfully classify patients diagnosed with unipolar depression. Purposes of this investigation were to assess the generalizability of this approach to a large clinically more realistic sample and secondarily to assess the replicability of previously reported methodological feasibility in a more homogeneous subgroup with pronounced depressive symptoms. Two independent subsets were drawn from the depression and control cohorts of the BiDirect study, each with 180 patients with and 180 controls without depression...
December 31, 2016: Journal of Neural Transmission
Nataliya Titova, C Padmakumar, Simon J G Lewis, K Ray Chaudhuri
Emerging concepts suggest that a multitude of pathology ranging from misfolding of alpha-synuclein to neuroinflammation, mitochondrial dysfunction, and neurotransmitter driven alteration of brain neuronal networks lead to a syndrome that is commonly known as Parkinson's disease. The complex underlying pathology which may involve degeneration of non-dopaminergic pathways leads to the expression of a range of non-motor symptoms from the prodromal stage of Parkinson's to the palliative stage. Non-motor clinical subtypes, cognitive and non-cognitive, have now been proposed paving the way for possible subtype specific and non-motor treatments, a key unmet need currently...
December 27, 2016: Journal of Neural Transmission
Patricia A Broderick, Jacob H Jacoby
No abstract text is available yet for this article.
December 27, 2016: Journal of Neural Transmission
Sergej Nadalin, Smiljana Ristić, Jelena Rebić, Vesna Šendula Jengić, Miljenko Kapović, Alena Buretić-Tomljanović
We investigated the relationship between the functional insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene and the risk of nicotine dependence in Croatian schizophrenia patients. We also tested whether interactions between ACE-I/D polymorphism and smoking status affected the clinical psychopathology findings in patients as measured using Positive and Negative Symptom Scale (PANSS) scores. Polymerase chain reaction analysis was used to genotype 267 chronically ill schizophrenia patients (140 males/127 females)...
December 27, 2016: Journal of Neural Transmission
Haruhiro Higashida, Shin-Ya Kamimura, Takeshi Inoue, Osamu Hori, Mohammad Saharul Islam, Olga Lopatina, Chiharu Tsuji
The role of cyclic ADP-ribose (cADPR) as a second messenger and modulator of the mTOR pathway downstream of dopamine (DA) receptors and/or CD38 was re-examined in the mouse. ADP-ribosyl activity was low in the membranes of neonates, but DA stimulated it via both D1- and D2-like receptors. ADP-ribosyl cyclase activity increased significantly during development in association with increased expression of CD38. The cADPR binding proteins, FKBP12 and FKBP12.6, were expressed in the adult mouse striatum. The ratio of phosphorylated to non-phosphorylated S6 kinase (S6K) in whole mouse striatum homogenates decreased after incubation of adult mouse striatum with extracellular cADPR for 5 min...
December 26, 2016: Journal of Neural Transmission
A Perrochon, R Holtzer, M Laidet, S Armand, F Assal, P H Lalive, G Allali
Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease affecting various neurological domains, such as postural control, cognition, fear of falling, depression-anxiety, and fatigue. This study examined the associations of cognitive functions, fear of falling, depression-anxiety, and fatigue with postural control in patients with MS. Postural control (sway velocity) of 63 patients with MS (age 39.0 ± 8.9 years; %female 57%; Expanded Disability Status Scale score median (interquartile range) 2...
December 22, 2016: Journal of Neural Transmission
Gilad Yahalom, Oren S Cohen, Naama Warmann-Alaluf, Chen Shabat, Hanna Strauss, Sandra Elincx-Benizri, Simon Israeli-Korn, Esther Stein, Lior Greenbaum, Sharon Hassin-Baer
Long-term levodopa therapy in patients with Parkinson's disease (PD) is associated with motor complications including motor fluctuations (MF) and levodopa-induced dyskinesias (LID). The time to appearance of MF and LID is apparently related to both the timing and the duration of levodopa therapy, but is highly variable. We performed a retrospective analysis of all levodopa-treated PD patients to explore the effect of time from PD onset to levodopa initiation on time to MF or LID. We used a Cox multivariate regression model after stratifying patients into four quartiles, according to the time to levodopa initiation...
December 21, 2016: Journal of Neural Transmission
Sarunas Augustis, Viktoras Saferis, Wolfgang H Jost
Autonomic dysfunction in multiple system atrophy (MSA) comprises cardinal symptoms of orthostatic hypotension (OH) and urinary incontinence. Additionally, cardiovagal and sudomotor abnormalities can be present. Previous studies compared hand skin temperature and its response to cooling in subjects with probable MSA and Parkinson's disease (PD). Significant differences were found indicating that disturbed thermoregulation belongs to MSA autonomic features and could be helpful in differentiation of MSA from PD...
December 21, 2016: Journal of Neural Transmission
Nanda Rommelse, Jan K Buitelaar, Catharina A Hartman
We hypothesize that it is plausible that biologically distinct developmental ASD-ADHD subtypes are present, each characterized by a distinct time of onset of symptoms, progression and combination of symptoms. The aim of the present narrative review was to explore if structural brain imaging studies may shed light on key brain areas that are linked to both ASD and ADHD symptoms and undergo significant changes during development. These findings may possibly pinpoint to brain mechanisms underlying differential developmental ASD-ADHD subtypes...
December 21, 2016: Journal of Neural Transmission
Dirk Adolph, Jürgen Margraf
Relatively larger resting right frontal cortical brain activation has been labeled as a risk factor for emotion-related disorders. In light of this framework, the present studies' aim was twofold. First, we wanted to determine whether a relationship between symptoms of anxiety and depression and frontal asymmetry does already manifest in a sample of so far healthy individuals showing a large symptom range. This could be expected if frontal asymmetry constitutes a risk factor for depression and anxiety. Second, we aimed to investigate whether symptoms of depression and anxiety are independently related to frontal asymmetry, or whether either anxiety or depression is superior in predicting the relationship with frontal asymmetry...
December 16, 2016: Journal of Neural Transmission
Joseph Kamtchum-Tatuene, Gilles Allali, Arnaud Saj, Thérèse Bernati, Roman Sztajzel, Pierre Pollak, Isabelle Momjian-Mayor, Andreas Kleinschmidt
Most studies on sensory extinction have focused on selected patients with subacute and chronic right hemisphere lesions. In studies conducted on acute stroke patients, risk factors and time course were not evaluated. Our aim was to determine the prevalence, risk factors, and time course of sensory extinction in the acute stroke setting. Consecutive patients with acute stroke were tested for tactile, visual, auditory, and auditory-tactile cross-modal extinction, as well as for peripersonal visuospatial neglect (PVN)...
December 9, 2016: Journal of Neural Transmission
Chikara Yamashita, Manabu Funayama, Yuanzhe Li, Hiroyo Yoshino, Hitoshi Yamada, Yusuke Seino, Hiroyuki Tomiyama, Nobutaka Hattori
A recessive mutation in PLA2G6, which is known to cause infantile neuroaxonal dystrophy (INAD) and neurodegeneration associated with brain iron accumulation (NBIA), has recently been shown to be responsible for PARK14-linked dystonia-parkinsonism. To study the frequency of PLA2G6 mutations, including those caused by gene rearrangement in patients with parkinsonism, we performed direct sequencing and investigated copy number variations (CNVs) of this gene in 109 Japanese patients with parkinsonism. Direct sequencing revealed a homozygous mutation (c...
December 9, 2016: Journal of Neural Transmission
Jan Rusz, Tereza Tykalová, Radim Krupička, Kateřina Zárubová, Michal Novotný, Robert Jech, Zoltán Szabó, Evžen Růžička
It is currently unknown whether speech and limb motor effectors in Parkinson's disease (PD) are controlled by similar underlying brain processes. Based on computerized objective analysis, the aim of this study was to evaluate potential correlation between speech and mechanical tests of upper limb motor function. Speech and upper limb motor tests were performed in 22 PD patients and 22 healthy controls. Quantitative acoustic analyses of eight key speech dimensions of hypokinetic dysarthria, including quality of voice, sequential motion rates, consonant articulation, vowel articulation, average loudness, loudness variability, pitch variability, and number of pauses, were performed...
December 8, 2016: Journal of Neural Transmission
Anne Horn, C Scheller, S du Plessis, R Burger, G Arendt, J Joska, S Sopper, C M Maschke, M Obermann, I W Husstedt, J Hain, P Riederer, E Koutsilieri
We showed previously that higher levels in CSF dopamine in HIV patients are associated with the presence of the dopamine transporter (DAT) 10/10-repeat allele which was also detected more frequently in HIV-infected individuals compared to uninfected subjects. In the current study, we investigated further whether other genetic dopamine (DA)-related polymorphisms may be related with changes in CSF DA levels and frequency of HIV infection in HIV-infected subjects. Specifically, we studied genetic polymorphisms of brain-derived neurotrophic factor, catechol-O-methyltransferase, and dopamine receptors DRD2, DRD3, and DRD4 genetic polymorphisms in uninfected and HIV-infected people in two different ethnical groups, a German cohort (Caucasian, 72 individuals with HIV infection and 22 individuals without HIV infection) and a South African cohort (Xhosan, 54 individuals with HIV infection and 19 individuals without HIV infection)...
December 1, 2016: Journal of Neural Transmission
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