Outpatient Psychotherapy for Adults with High-Functioning Autism Spectrum Condition: Utilization, Treatment Satisfaction, and Preferred Modifications.

Many adults with autism spectrum condition (ASC) desire outpatient psychotherapy (PT). This study compared reasons for seeking PT, experiences with PT, and modifications preferred with respect to PT of individuals with ASC to non-autistic individuals with depression (MDD). Furthermore, factors predictive for treatment satisfaction were identified in individuals with ASC.

Biomarkers of Neurodegeneration in Autoimmune-Mediated Encephalitis.

Progranulin (PGRN), Total-Tau (t-tau), and Neurofilament light chain (NfL) are well known biomarkers of neurodegeneration. The objective of the present study was to investigate whether these parameters represent also biomarkers in autoimmune-mediated Encephalitis (AE) and may give us insights into the pathomechanisms of AE. We retrospectively examined the concentration of PGRN in the cerebrospinal fluid (CSF) and serum of 38 patients suffering from AE in acute phase and/or under treatment.

Arm swing asymmetry in overground walking.

Treadmill experiments suggest that left-dominant arm swing is common in healthy walking adults and is modulated by cognitive dual-tasking. Little is known about arm swing asymmetry in overground walking. We report directional (dASI) and non-directional arm swing symmetry indices (ndASI) from 334 adults (mean age 68.

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.

Objective: To assess the construct validity of the 10-Meter Walk Test (10mWT), Six-Minute Walk Test (6MWT), Berg Balance Scale (BERG), and Timed Up and Go (TUG) in adults with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), in addition to the interrater reliability of the 10mWT and 6MWT.

Methods: Reliability was determined using the intraclass correlation coefficient (ICC). Validity was determined first by correlating the 10mWT, 6MWT, BERG, and TUG with participant's age, lower limb coordination, and disease severity, and then by assessing their capacity to distinguish between participants based on sex and disease stages.

Hemicrania Continua Associated with Classic Scintillating Scotoma.

Hemicrania continua (HC) is a rare primary headache disorder, characterized by persistent unilateral pain associated with cranial autonomic symptoms and prompt response to indomethacin. While migrainous features (including aura) have been recognized in cluster headache, there have been only single reports of HC with aura. Here, we report the case of a 53-year-old man with constant right-sided headache and superimposed exacerbations to severe pain lasting for several hours.

Counterregulation of cAMP-directed kinase activities controls ciliogenesis.

The primary cilium emanates from the cell surface of growth-arrested cells and plays a central role in vertebrate development and tissue homeostasis. The mechanisms that control ciliogenesis have been extensively explored. However, the intersection between GPCR signaling and the ubiquitin pathway in the control of cilium stability are unknown.

Effects of Subthalamic and Nigral Stimulation on Gait Kinematics in Parkinson's Disease.

Conventional subthalamic deep brain stimulation for Parkinson's disease (PD) presumably modulates the spatial component of gait. However, temporal dysregulation of gait is one of the factors that is tightly associated with freezing of gait (FOG). Temporal locomotor integration may be modulated differentially at distinct levels of the basal ganglia.

Impaired K binding to glial glutamate transporter EAAT1 in migraine.

SLC1A3 encodes the glial glutamate transporter hEAAT1, which removes glutamate from the synaptic cleft via stoichiometrically coupled Na-K-H-glutamate transport. In a young man with migraine with aura including hemiplegia, we identified a novel SLC1A3 mutation that predicts the substitution of a conserved threonine by proline at position 387 (T387P) in hEAAT1. To evaluate the functional effects of the novel variant, we expressed the wildtype or mutant hEAAT1 in mammalian cells and performed whole-cell patch clamp, fast substrate application, and biochemical analyses.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations.

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).

Validation of a Step Detection Algorithm during Straight Walking and Turning in Patients with Parkinson's Disease and Older Adults Using an Inertial Measurement Unit at the Lower Back.

Introduction: Inertial measurement units (IMUs) positioned on various body locations allow detailed gait analysis even under unconstrained conditions. From a medical perspective, the assessment of vulnerable populations is of particular relevance, especially in the daily-life environment. Gait analysis algorithms need thorough validation, as many chronic diseases show specific and even unique gait patterns.

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Objective: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding to the increasing number of complex lipid cHSP genes.

Methods: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family.

Results: 5 of 6 affected subjects shared cHSP as a common disease phenotype.

Juvenile Stroke.

Background: So-called juvenile stroke, i.e., stroke in a person aged 18 to 55, affects approximately 30 000 persons per year in Germany and is thus an important cause of mortality and permanent morbidity.

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis, demyelinating neuropathy, cachexia and gastrointestinal dysmotility. Hemodialysis (HMD) has been suggested as a treatment to reduce accumulation of thymidine and deoxyuridine. However, all studies so far have failed to measure the toxic metabolites in cerebrospinal fluid (CSF), which is the crucial compartment for CNS damage.

Algorithm for Turning Detection and Analysis Validated under Home-Like Conditions in Patients with Parkinson's Disease and Older Adults using a 6 Degree-of-Freedom Inertial Measurement Unit at the Lower Back.

Introduction: Aging and age-associated disorders such as Parkinson's disease (PD) are often associated with turning difficulties, which can lead to falls and fractures. Valid assessment of turning and turning deficits specifically in non-standardized environments may foster specific treatment and prevention of consequences.

Methods: Relative orientation, obtained from 3D-accelerometer and 3D-gyroscope data of a sensor worn at the lower back, was used to develop an algorithm for turning detection and qualitative analysis in PD patients and controls in non-standardized environments.

The clinical, neuroanatomical, and neuropathologic phenotype of -associated frontotemporal dementia: A longitudinal case report.

Introduction: Mutations in the TANK-binding kinase 1 () gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of -associated FTD is currently unclear.

Methods: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the gene.

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largely frames clinical thinking and genetic workup in clinical practice. Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system.

Re-emergent tremor in Parkinson's disease: Clinical and accelerometric properties.

Re-emergent tremor (RET) and the classical parkinsonian rest tremor were considered as two different phenomena of the same central tremor circuit. However, clinical and accelerometric characteristics of these tremors were not previously compared in a single study. We evaluated disease characteristics and accelerometric measurements of two tremor types in 42 patients with Parkinson's disease.

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.

Background And Objective: Reduced progranulin levels are a hallmark of frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin gene (GRN). However, alterations of central nervous progranulin expression also occur in neurodegenerative disorders unrelated to GRN mutations, such as Alzheimer's disease. We hypothesised that central nervous progranulin levels are also reduced in GRN-negative FTD.

New methods for the assessment of Parkinson's disease (2005 to 2015): A systematic review.

Background: The past decade has witnessed a highly dynamic and growing expansion of novel methods aimed at improving the assessment of Parkinson's disease with technology (NAM-PD) in laboratory, clinical, and home environments. However, the current state of NAM-PD regarding their maturity, feasibility, and usefulness in assessing the main PD features has not been systematically evaluated.

Methods: A systematic review of articles published in the field from 2005 to 2015 was performed.

Structural Ultrasound of the Medial Temporal Lobe in Alzheimer's Disease.

 One of the anatomical hallmarks of Alzheimer's disease (AD) is the atrophy of the medial temporal lobe (MTL), yet cost-effective and broadly available methodological alternatives to the current imaging tools for screening of this brain area are not currently available.  Using structural transcranial ultrasound (TCS), we attempted to visualize and measure the MTL, and compared the results of 32 AD patients and 84 healthy controls (HC). The MTL and the surrounding space were defined in the coronal plane on TCS.