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Sittichai Ingprasert, Damkerng Pathomvanich, Patra Pinyopawasutthi
BACKGROUND: Female hairline restoration has increasingly been in demand for the past decade. However, no reports address the correlation between characteristics of hair at the hairline and at the donor area. OBJECTIVE: To assess follicular characteristics at the hairline and at the donor area including hair density, diameter, and their correlation. MATERIALS AND METHODS: One hundred one randomly selected Southeast Asian female volunteers were assessed for hairline and donor area characteristics...
March 13, 2018: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
Lauren Massimo, Sharon X Xie, Lior Rennert, Donna M Fick, Amy Halpin, Katerina Placek, Andrew Williams, Katya Rascovsky, David J Irwin, Murray Grossman, Corey T McMillan
To evaluate whether occupational attainment influences the trajectory of longitudinal cognitive decline in behavioral variant frontotemporal degeneration (bvFTD). Single-center, retrospective, longitudinal study. Sixty-three patients meeting consensus criteria for bvFTD underwent evaluation at the University of Pennsylvania Frontotemporal Degeneration Center. All patients were studied longitudinally on letter-guided fluency, category-naming fluency and Boston Naming Test (BNT). Occupational attainment was defined categorically by assigning each individual's occupation to a professional or non-professional category...
March 14, 2018: Brain Imaging and Behavior
Maria Garranzo-Asensio, Pablo San Segundo-Acosta, Javier Martínez-Useros, Ana Montero-Calle, María Jesús Fernández-Aceñero, Anna Häggmark-Månberg, Alberto Pelaez-Garcia, Mayte Villalba, Alberto Rabano, Peter Nilsson, Rodrigo Barderas
Alzheimer's disease (AD) is the most common form of dementia in developed countries. A better understanding of the events taking place at the molecular level would help to identify novel protein alterations, which might be used in diagnosis or for treatment development. In this study, we have performed the high-throughput analysis of 706 molecules mostly implicated in cell-cell communication and cell signaling processes by using two antibody microarray platforms. We screened three AD pathological groups -each one containing four pooled samples- from Braak stages IV, V and VI, and three control groups from two healthy subjects, five frontotemporal and two vascular dementia patients onto Panorama and L-Series antibody microarrays to identify AD-specific alterations not common to other dementias...
February 16, 2018: Oncotarget
Woojin Scott Kim, Eve Jary, Russell Pickford, Ying He, Rebekah M Ahmed, Olivier Piguet, John R Hodges, Glenda M Halliday
Behavioral variant frontotemporal dementia (bvFTD) is the most prevalent form of FTD syndromes. bvFTD is characterized clinically by changes in behavior and cognition and pathologically by focal brain atrophy and concomitant loss of lipids. bvFTD is further characterized by eating abnormalities that result in dyslipidemia. Although dyslipidemia is apparent in bvFTD, very little is known about global lipid changes in bvFTD and lipid dysregulation underlying bvFTD. Here, we undertook a comprehensive lipidomics analysis of blood plasma from patients with bvFTD, patients with Alzheimer's disease (AD) and controls, using liquid chromatography-tandem mass spectrometry, with the aim of understanding lipid dysregulation in bvFTD...
2018: Frontiers in Neurology
Jana Klaus, Dennis J L G Schutter
In addition to the role of left frontotemporal areas in language processing, there is increasing evidence that language comprehension and production require cognitive control and working memory resources involving the left dorsolateral prefrontal cortex (DLPFC). The aim of this study was to investigate the role of the left DLPFC in both language comprehension and production. In a double-blind, sham-controlled crossover experiment, thirty-two participants received cathodal or sham transcranial direct current stimulation (tDCS) to the left DLPFC while performing a language comprehension and a language production task...
March 10, 2018: Neuroscience
Wouter I Schievink, M Marcel Maya, Zachary R Barnard, Franklin G Moser, Stacey Jean-Pierre, Alan D Waxman, Miriam Nuño
BACKGROUND: Behavioral variant frontotemporal dementia (bvFTD) is a devastating early onset dementia. Symptoms of bvFTD may be caused by spontaneous intracranial hypotension (SIH), a treatable disorder, but no comprehensive study of such patients has been reported. OBJECTIVE: To describe detailed characteristics of a large cohort of patients with SIH and symptoms of bvFTD. METHODS: We identified patients with SIH who met clinical criteria for bvFTD...
March 8, 2018: Operative Neurosurgery (Hagerstown, Md.)
Kuo-Hsuan Chang, Guan-Chiun Lee, Chin-Chang Huang, Hung-Chou Kuo, Chiung-Mei Chen, Ya-Chin Hsiao, Hsuan-Chu Hsu, Ke-Jen Hsu, Chih-Hsin Lin, Chia Wen Chang, Guey-Jen Lee-Chen, Yih-Ru Wu
BACKGROUND: Mutations in the GRN (granulin precursor) are a frequent cause of frontotemporal dementia (FTD) and other atypical parkinsonian disorders. However, the frequency of GRN mutations in Asian patients with atypical parkinsonian disorders is still uncertain. METHODS: We screened GRN mutations by sequencing cDNA from 98 patients with FTD or atypical parkinsonian disorders. The functional properties of the identified mutation were evaluated by overexpression in human embryonic kidney (HEK)-293 cells...
February 28, 2018: Parkinsonism & related Disorders
Noori Chai, Aaron D Gitler
A hexanucleotide repeat expansion in the C9orf72 gene has been identified as the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. The expanded hexanucleotide repeat is translated by an unconventional mechanism to produce five species of dipeptide repeat proteins (DPRs), glycine-proline (GP), glycine-alanine, glycine-arginine (GR), proline-alanine (PA), and proline-arginine (PR). Of these, the arginine-rich ones, PR and GR, are highly toxic in a variety of model systems, ranging from human cells, to Drosophila, to even the budding yeast, Saccharomyces cerevisiae...
March 8, 2018: FEMS Yeast Research
Amrutha Swaminathan, Marilou Bouffard, Meijiang Liao, Sarah Ryan, Janis Bennion Callister, Stuart M Pickering-Brown, Gary Alan Barclay Armstrong, Pierre Drapeau
Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration (ALS/FTLD). Different hypotheses exist about the underlying disease mechanism including loss-of-function by haploinsufficiency, toxicity arising as a result of RNA or dipeptide repeats (DPRs). Five different DPRs are produced by repeat-associated non-ATG-initiated (RAN) translation of the G4C2 repeats...
March 8, 2018: Human Molecular Genetics
Eline A J Willemse, Ann De Vos, Elizabeth M Herries, Ulf Andreasson, Sebastiaan Engelborghs, Wiesje M van der Flier, Philip Scheltens, Dan Crimmins, Jack H Ladenson, Eugeen Vanmechelen, Henrik Zetterberg, Anne M Fagan, Kaj Blennow, Maria Bjerke, Charlotte E Teunissen
BACKGROUND: Neurogranin in cerebrospinal fluid (CSF) correlates with cognitive decline and is a potential novel biomarker for Alzheimer disease (AD) dementia. We investigated the analytical and diagnostic performance of 3 commonly used neurogranin assays in the same cohort of patients to improve the interpretability of CSF neurogranin test results. METHODS: The neurogranin Singulex assay from Washington University, St. Louis, MO (WashU); ELISA from ADx Neurosciences; and ELISA from Gothenburg University, Mölndal, Sweden (UGot), were compared using silver staining and Western blot after gel electrophoresis...
March 9, 2018: Clinical Chemistry
Tu-Hsueh Yeh, Han-Fang Liu, Yu-Wen Li, Chin-Song Lu, Hung-Yu Shih, Ching-Chi Chiu, Sheng-Jia Lin, Yin-Cheng Huang, Yi-Chuan Cheng
Hexanucleotide repeat expansions in the C9orf72 gene are a common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the function of C9orf72 in neural development and the pathogenic mechanism underlying neurodegeneration are unknown. We found that disrupting C9orf72 expression by using C9orf72 constructs that lack the complete DENN domain result in reduced GTPase activity in zebrafish embryos, demonstrating the indispensability of the complete DENN domain...
March 6, 2018: Experimental Neurology
Mario F Mendez
Studies suggest a relationship of manic behavior and bipolar disorder (BD) with behavioral variant frontotemporal dementia (bvFTD). The nature of this relationship is unclear. This report presents a patient with initial manic behavior as the main manifestation of familial bvFTD from a novel progranulin (GRN) mutation. In contrast, there are other reports of a long background of BD preceding a diagnosis of bvFTD. A review of the literature and this patient suggest that manic symptoms result from damage to right frontotemporal neural structures from longstanding BD, as well as from bvFTD and other focal neurological disorders...
2018: Neuropsychiatric Disease and Treatment
Elisa Rubino, Ming Zhang, Tiziana Mongini, Silvia Boschi, Liliana Vercelli, Alessandro Vacca, Flora Govone, Annalisa Gai, Maria Teresa Giordana, Mark Grinberg, Ekaterina Rogaeva, Innocenzo Rainero
Mutations in CHCHD2 and CHCHD10 were recently reported in a broad spectrum of neurodegenerative diseases, for example, Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia, or mitochondrial myopathy (MM). The aim of the study was to evaluate the prevalence of CHCHD2 and CHCHD10 mutations in Italian MM patients without mitochondrial DNA mutations. The coding regions of CHCHD2 and CHCHD10 were sequenced in 62 MM patients. None of the patients showed CHCHD2 mutations, whereas 1 sporadic MM patient carried a homozygous Pro96Thr substitution in CHCHD10...
February 14, 2018: Neurobiology of Aging
Sung Ho Jang, Younghyeon Kwon
RATIONALE: A 45-year-old right-handed female patient suffered head trauma after being hit by a truck that ran into a house. PATIENT CONCERNS: The patient lost consciousness for 1 hour and experienced posttraumatic amnesia for 1 month after the accident. DIAGNOSES: She underwent conservative management for a subdural hematoma in the left frontotemporal lobes and intracerebral hematoma in the left frontal lobe. INTERVENTIONS: The patient's Glasgow Coma Scale score was 11...
March 2018: Medicine (Baltimore)
Lieke H H Meeter, Everard G Vijverberg, Marta Del Campo, Annemieke J M Rozemuller, Laura Donker Kaat, Frank Jan de Jong, Wiesje M van der Flier, Charlotte E Teunissen, John C van Swieten, Yolande A L Pijnenburg
OBJECTIVE: To examine the clinical value of neurofilament light chain (NfL) and the phospho-tau/total tau ratio (p/t-tau) across the entire frontotemporal dementia (FTD) spectrum in a large, well-defined cohort. METHODS: CSF NfL and p/t-tau levels were studied in 361 patients with FTD: 179 behavioral variant FTD, 17 FTD with motor neuron disease (FTD-MND), 36 semantic variant primary progressive aphasia (PPA), 19 nonfluent variant PPA, 4 logopenic variant PPA (lvPPA), 42 corticobasal syndrome, and 64 progressive supranuclear palsy...
March 7, 2018: Neurology
Pantelis Maiovis, Panagiotis Ioannidis, Georgios Gerasimou, Anna Gotzamani-Psarrakou, Dimitrios Karacostas
BACKGROUND AND OBJECTIVE: Cognitive reserve (CR) mediates the clinical expression of brain pathology in Alzheimer's disease, while there are much less relevant data in frontotemporal dementia (FTD). In the present study we examined whether CR, measured using the Cognitive Reserve Index (CRI), correlated with regional cerebral blood flow (rCBF) in Greek FTD patients. METHODS: Eighty FTD patients, i.e., 47 with behavioral variant FTD (bvFTD) and 33 with primary progressive aphasia (PPA), were enrolled into this study...
March 7, 2018: Neuro-degenerative Diseases
Marion M Ortner
The diagnosis of dementia probably due to Alzheimer's disease is still primarily a clinical one. In cases that remain clinically unclear, however, biomarkers for amyloid deposition and neuronal injury can help to identify the underlying cause. One biomarker even for early neuronal injury in the stage of mild cognitive impairment is cerebral glucose hypometabolism measured by18 F-FDG PET. Distinct patterns of hypometabolism can be seen, for example, in dementia due to Alzheimer's disease, frontotemporal lobar degeneration, and dementia with Lewy bodies...
2018: Methods in Molecular Biology
Wolfgang Reith
Neurodegenerative diseases are sporadic and rare hereditary disorders of the central nervous system, which cause a slowly progressive loss of function of specific neuron populations and their connections. Severe impairments and care dependency can be the sequelae. Neurodegenerative disorders are diseases of older people; therefore, the demographic shift leads to an increase in the number of affected patients. Radiologists will also become more involved. For this reason important neurodegenerative diseases are presented in this article...
March 2018: Der Radiologe
Alberto Benussi, Maria Sofia Cotelli, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with extensive biological, molecular, and clinical heterogeneity. Recently, numerous studies have tried to shed light on the pathophysiology of the disease, highlighting possible disease pathways common to other neurodegenerative disorders, such as Alzheimer's disease and frontotemporal dementia, and identifying possible candidate biomarkers for disease staging and response to treatment. Miglustat, which reversibly inhibits glycosphingolipid synthesis, has been licensed in the European Union and elsewhere for the treatment of NPC in both children and adults...
2018: F1000Research
Andrew D Nguyen, Thi A Nguyen, Jiasheng Zhang, Swathi Devireddy, Ping Zhou, Anna M Karydas, Xialian Xu, Bruce L Miller, Frank Rigo, Shawn M Ferguson, Eric J Huang, Tobias C Walther, Robert V Farese
Frontotemporal dementia (FTD) is the most common neurodegenerative disorder in individuals under age 60 and has no treatment or cure. Because many cases of FTD result from GRN nonsense mutations, an animal model for this type of mutation is highly desirable for understanding pathogenesis and testing therapies. Here, we generated and characterized Grn R493X knockin mice, which model the most common human GRN mutation, a premature stop codon at arginine 493 (R493X). Homozygous Grn R493X mice have markedly reduced Grn mRNA levels, lack detectable progranulin protein, and phenocopy Grn knockout mice, with CNS microgliosis, cytoplasmic TDP-43 accumulation, reduced synaptic density, lipofuscinosis, hyperinflammatory macrophages, excessive grooming behavior, and reduced survival...
March 6, 2018: Proceedings of the National Academy of Sciences of the United States of America
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