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Apraxia

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https://www.readbyqxmd.com/read/27901517/ideomotor-limb-apraxia-as-a-staging-tool-in-individuals-with-alzheimer-s-disease-iliad
#1
William D Soulsby, Nezar El-Ruwie, Shravan Gatla, Katelyn Anderson Zimmer, Safa Najmi, Alexander Chen, John T Chibnall, George T Grossberg
BACKGROUND: Ideomotor apraxia (IMA) is known to affect individuals with Alzheimer's disease (AD). Combined with impaired cognitive function, IMA can support evidence of probable AD. However, apraxia is a condition that is difficult to diagnose. The Postural Knowledge Test (PKT), developed by Mozaz et al, was designed to easily identify limb apraxia in multiple sclerosis yet demonstrated potential utility for AD. ILIAD is a pilot study to investigate correlation between the PKT and Mini-Mental State Examination (MMSE)...
November 2016: Annals of Clinical Psychiatry: Official Journal of the American Academy of Clinical Psychiatrists
https://www.readbyqxmd.com/read/27895948/pediatric-balint-s-syndrome-variant-a-possible-diagnosis-in-children
#2
Swetha Sara Philip, Sunithi Elizabeth Mani, Gordon N Dutton
Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27882295/neuroanatomical-correlates-of-childhood-apraxia-of-speech-a-connectomic-approach
#3
Simona Fiori, Andrea Guzzetta, Jhimli Mitra, Kerstin Pannek, Rosa Pasquariello, Paola Cipriani, Michela Tosetti, Giovanni Cioni, Stephen E Rose, Anna Chilosi
Childhood apraxia of speech (CAS) is a paediatric speech sound disorder in which precision and consistency of speech movements are impaired. Most children with idiopathic CAS have normal structural brain MRI. We hypothesize that children with CAS have altered structural connectivity in speech/language networks compared to controls and that these altered connections are related to functional speech/language measures. Whole brain probabilistic tractography, using constrained spherical deconvolution, was performed for connectome generation in 17 children with CAS and 10 age-matched controls...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27871202/corticobasal-syndrome-due-to-sporadic-creutzfeldt-jakob-disease-a-review-and-neuropsychological-case-report
#4
David Andrés González, Jason R Soble
OBJECTIVE: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease with neuropsychological sequelae. This study highlighted a rare presentation of CJD (e.g. corticobasal syndrome [CBS]), reviewed updated diagnostic criteria and procedures for CJD (e.g. diffusion weighted imaging [DWI], real-time quaking-induced conversion [RT-QuIC]), and discussed differential diagnoses. METHOD: Case report methodology focused on a 68-year-old, Hispanic, right-handed man with 11 years of education...
November 22, 2016: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/27847706/reliability-and-validity-of-korean-version-of-apraxia-screen-of-tulia-k-ast
#5
Soo Jin Kim, You-Na Yang, Jong Won Lee, Jin-Youn Lee, Eunhwa Jeong, Bo-Ram Kim, Jongmin Lee
OBJECTIVE: To evaluate the reliability and validity of Korean version of AST (K-AST) as a bedside screening test of apraxia in patients with stroke for early and reliable detection. METHODS: AST was translated into Korean, and the translated version received authorization from the author of AST. The performances of K-AST in 26 patients (21 males, 5 females; mean age 65.42±17.31 years) with stroke (23 ischemic, 3 hemorrhagic) were videotaped. To test the reliability and validity of K-AST, the recorded performances were assessed by two physiatrists and two occupational therapists twice at a 1-week interval...
October 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27829324/callosal-ideomotor-apraxia-in-alzheimer-s-disease
#6
Ann Marie Cimino-Knight, Leslie J Gonzalez Rothi, Ying He, Kenneth M Heilman
BACKGROUND/OBJECTIVE: Impaired ability to perform skilled movements with the left upper limb in patients with corpus callosum injury has been well described (callosal apraxia) with some displaying spatial-temporal errors primarily in response to verbal commands (verbal callosal disconnection apraxia), with imitation, and when using actual tools (callosal ideomotor apraxia). Additionally some patients with callosal injury also make content errors when selecting and using the incorrect tool with their left upper limb (callosal conceptual apraxia)...
November 10, 2016: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/27816991/frontalis-suspension-surgery-to-treat-patients-with-blepharospasm-and-eyelid-opening-apraxia-long-term-results
#7
Dirk Dressler, Chrisanthi Karapantzou, Saskia Rohrbach, Simon Schneider, Rainer Laskawi
Blepharospasm may be accompanied by eyelid opening apraxia (EOA) reducing the efficacy of botulinum toxin (BT) therapy. The frontalis suspension operation (FSO) is then the only effective treatment option available. We want to report the first long-term results with FSO. We studied 15 patients with blepharospasm and EAO unresponsive to BT therapy (9 females, 6 males, age 61.9 ± 11.5 years). FSO was performed by applying 2 polytetrafluoroethylene threads (PTFE, Gore-Tex(®)) per eye connecting the frontalis muscle to the upper eye lid...
November 5, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27812326/a-foxp2-mutation-implicated-in-human-speech-deficits-alters-sequencing-of-ultrasonic-vocalizations-in-adult-male-mice
#8
Jonathan Chabout, Abhra Sarkar, Sheel R Patel, Taylor Radden, David B Dunson, Simon E Fisher, Erich D Jarvis
Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here, we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27790241/improved-necker-cube-drawing-based-assessment-battery-for-constructional-apraxia-the-mie-constructional-apraxia-scale-mcas
#9
Masayuki Satoh, Chika Mori, Kana Matsuda, Yukito Ueda, Ken-Ichi Tabei, Hirotaka Kida, Hidekazu Tomimoto
BACKGROUND/AIMS: Constructional apraxia (CA) is usually diagnosed by having patients draw figures; however, the reported assessments only evaluate the drawn figure. We designed a new assessment battery for CA (the Mie Constructional Apraxia Scale, MCAS) which includes both the shape and drawing process, and investigated its utility against other assessment methods. METHODS: We designed the MCAS, and evaluated inter- and intrarater reliability. We also investigated the sensitivity, specificity, and positive and negative predictive values in dementia patients, and compared MCAS assessment with other reported batteries in the same subjects...
September 2016: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/27790240/lack-of-frank-agrammatism-in-the-nonfluent-agrammatic-variant-of-primary-progressive-aphasia
#10
Naida L Graham, Carol Leonard, David F Tang-Wai, Sandra Black, Tiffany W Chow, Chris J M Scott, Alicia A McNeely, Mario Masellis, Elizabeth Rochon
BACKGROUND/AIMS: Frank agrammatism, defined as the omission and/or substitution of grammatical morphemes with associated grammatical errors, is variably reported in patients with nonfluent variant primary progressive aphasia (nfPPA). This study addressed whether frank agrammatism is typical in agrammatic nfPPA patients when this feature is not required for diagnosis. METHOD: We assessed grammatical production in 9 patients who satisfied current diagnostic criteria...
September 2016: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/27788554/-a-new-diagnostic-tool-for-apraxia-in-patients-with-right-hemisphere-stroke-the-revised-cologne-apraxia-screening-kas-r
#11
K Wirth, A Held, E Kalbe, J Kessler, J Saliger, H Karbe, G R Fink, P H Weiss
The Cologne Apraxia Screening (KAS) was developed to diagnose apraxia following left-hemisphere (LH) stroke. The present study aims at developing a diagnostic tool for patients with right-hemisphere (RH) stroke (KAS-R) by modifying the test material of the KAS and reducing the test items based on psychometric analyses.A total of 100 patients with RH stroke and 77 healthy control participants were tested. Psychometric analyses led to the exclusion of 8 KAS items. The final KAS-R, consisting of 12 items, shows good internal consistency (α = 0...
October 2016: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/27781099/related-or-not-development-of-spontaneous-creutzfeldt-jakob-disease-in-a-patient-with-chronic-well-controlled-hiv-a-case-report-and-review-of-the-literature
#12
M-Alain Babi, Bryan D Kraft, Sweta Sengupta, Haley Peterson, Ryan Orgel, Zachary Wegermann, Njira L Lugogo, Matthew W Luedke
BACKGROUND: We report a novel case of a rare disease: spontaneous Creutzfeldt-Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt-Jakob disease and HIV. CASE REPORT: A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive "pseudo-dementia...
2016: SAGE Open Med Case Rep
https://www.readbyqxmd.com/read/27771483/senataxin-genome-guardian-at-the-interface-of-transcription-and-neurodegeneration
#13
Matthias Groh, Laura Oana Albulescu, Agnese Cristini, Natalia Gromak
R-loops comprise an RNA/DNA hybrid and displaced single-stranded DNA. They play crucial biological functions and are implicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, nucleotide expansion disorders (Friedreich ataxia, Fragile X syndrome) and cancer. Currently it is unclear which mechanisms cause R-loops structures to become pathogenic. The RNA/DNA helicase Senataxin (SETX) is one of the best characterised R-loop-binding factors in vivo. Mutations in SETX are linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4)...
October 19, 2016: Journal of Molecular Biology
https://www.readbyqxmd.com/read/27771043/tracking-the-development-of-agrammatic-aphasia-a-tensor-based-morphometry-study
#14
Jennifer L Whitwell, Joseph R Duffy, Mary M Machulda, Heather M Clark, Edythe A Strand, Matthew L Senjem, Jeffrey L Gunter, Anthony J Spychalla, Ronald C Petersen, Clifford R Jack, Keith A Josephs
Agrammatic aphasia can be observed in neurodegenerative disorders and has been traditionally linked with damage to Broca's area, although there have been disagreements concerning whether damage to Broca's area is necessary or sufficient for the development of agrammatism. We aimed to investigate the neuroanatomical correlates of the emergence of agrammatic aphasia utilizing a unique cohort of patients with primary progressive apraxia of speech (PPAOS) that did not have agrammatism at baseline but developed agrammatic aphasia over time...
September 30, 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/27759917/implication-of-lrrc4c-and-dpp6-in-neurodevelopmental-disorders
#15
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27756815/eating-behaviors-and-dietary-changes-in-patients-with-dementia
#16
Gabriele Cipriani, Cecilia Carlesi, Claudio Lucetti, Sabrina Danti, Angelo Nuti
BACKGROUND: Eating problems and dietary changes have been reported in patients with dementia. OBJECTIVES: The aim of this article is to explore the generalized problems with nutrition, diet, feeding, and eating reported among patients with dementia. METHODS: Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published before 2016. Search terms used included behavioral and psychological symptoms of dementia, dementia, dietary changes, eating behavior...
October 18, 2016: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/27750297/articulatory-control-in-childhood-apraxia-of-speech-in-a-novel-word-learning-task
#17
Julie Case, Maria I Grigos
Purpose: Articulatory control and speech production accuracy were examined in children with childhood apraxia of speech (CAS) and typically developing (TD) controls within a novel word-learning task to better understand the influence of planning and programming deficits in the production of unfamiliar words. Method: Participants included 16 children between the ages of 5 and 6 years (8 CAS, 8 TD). Short- and long-term changes in lip and jaw movement, consonant and vowel accuracy, and token-to-token consistency were measured for 2 novel words that differed in articulatory complexity...
October 17, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/27749417/ictal-phase-perfusion-spect-of-nonketotic-hyperglycemia-induced-parieto-occipital-seizure
#18
Chia-Ju Liu, Hsin-Hsi Tsai, Kuan-Yin Ko, Ching-Chu Lu, Ruoh-Fang Yen
A 68-year-old man with diabetes mellitus type 2 presented himself with visual distortion and apraxia. Nonketotic hyperglycemic seizure with both motor and sensory components was suspected. Tc-ECD perfusion SPECT demonstrated hyperperfusion at right parieto-occipital lobe during ictal phase. Normalization of hyperperfused area was noted on follow-up perfusion SPECT after intense glucose control. In nonketotic hyperglycemic state, the depletion of GABA in cerebral neurons lowers the seizure threshold. We demonstrated that ictal phase perfusion SPECT contributed to not only diagnosis but also served as a follow-up tool...
January 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27742371/leucoencephalopathy-following-abuse-of-sniffed-heroin
#19
Romain Lefaucheur, Axel Lebas, Emmanuel Gérardin, Lou Grangeon, Ozlem Ozkul-Wermester, Carole Aubier-Girard, Olivier Martinaud, David Maltête
A 29-year-old man was admitted for acute cognitive impairment. Three weeks earlier, he had been admitted for coma due to sniffed heroin abuse responsive to naloxone infusion. At admission, the patient presented with apraxia, severe memory impairment and anosognosia. Brain MRI revealed symmetric hyperintensities of supratentorial white matter, sparing brainstem and cerebellum, on FLAIR and B1000 sequences. Four months later, repeated neuropsychological assessment revealed dramatic improvement of global cognitive functions...
October 11, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27718307/sen1-the-homolog-of-human-senataxin-is-critical-for-cell-survival-through-regulation-of-redox-homeostasis-mitochondrial-function-and-the-tor-pathway-in-saccharomyces-cerevisiae
#20
EDITORIAL
Santhosh Kumar Sariki, Pushpendra Kumar Sahu, Upendarrao Golla, Vikash Singh, Gajendra Kumar Azad, Raghuvir S Tomar
Mutations in the Senataxin gene, SETX are known to cause the neurodegenerative disorders, ataxia with oculomotor apraxia type 2 (AOA2), and amyotrophic lateral sclerosis 4 (ALS4). However, the mechanism underlying disease pathogenesis is still unclear. The Senataxin N-terminal protein-interaction and C-terminal RNA/DNA helicase domains are conserved in the Saccharomyces cerevisiae homolog, Sen1p. Using genome-wide expression analysis, we first show alterations in key cellular pathways such as: redox, unfolded protein response, and TOR in the yeast sen1 ΔN mutant (N-terminal truncation)...
November 2016: FEBS Journal
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