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Apraxia

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https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#1
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28915852/a-novel-frameshift-grn-mutation-results-in-frontotemporal-lobar-degeneration-with-a-distinct-clinical-phenotype-in-two-siblings-case-report-and-literature-review
#2
Takashi Hosaka, Kazuhiro Ishii, Takeshi Miura, Naomi Mezaki, Kensaku Kasuga, Takeshi Ikeuchi, Akira Tamaoka
BACKGROUND: Progranulin gene (GRN) mutations are major causes of frontotemporal lobar degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very few of these mutations have been reported in Asians. Moreover, some GRN mutations manifest with familial phenotypic heterogeneity. Here, we present a novel GRN mutation resulting in frontotemporal lobar degeneration with a distinct clinical phenotype, and we review reports of GRN mutations associated with familial phenotypic heterogeneity...
September 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28914137/comparing-phoneme-frequency-age-of-acquisition-and-loss-in-aphasia-implications-for-phonological-universals
#3
Cristina Romani, Claudia Galuzzi, Cecilia Guariglia, Jeremy Goslin
Phonological complexity may be central to the nature of human language. It may shape the distribution of phonemes and phoneme sequences within languages, but also determine age of acquisition and susceptibility to loss in aphasia. We evaluated this claim using frequency statistics derived from a corpus of phonologically transcribed Italian words (phonitalia, available at phonitalia,org), rankings of phoneme age of acquisition (AoA) and rate of phoneme errors in patients with apraxia of speech (AoS) as an indication of articulatory complexity...
September 15, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28911995/ocular-dysfunctions-presenting-in-tacrolimus-induced-posterior-reversible-encephalopathy-syndrome-a-case-presentation
#4
Cora Brown, Alexander J Feng, Ernesto Cruz
The constellation of ocular symptoms, known as Balint's syndrome, is a rare disorder seen in bilateral parieto-occipital lesions and is most frequently due to arterial occlusive disease or acute hypertension. Here we present a case of a patient with tacrolimus-induced posterior reversible encephalopathy syndrome (PRES) who presented with optic ataxia, simultanagnosia, and ocular apraxia. These ocular findings, consistent with Balint's syndrome, are rarely the initial presentation of PRES. This case highlights the importance of early recognition of this unusual phenomenon as well as the importance of an individualized rehabilitation plan to maximize functional independence in these patients...
September 11, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28898322/-new-mutation-in-atm-gen-in-patient-whith-ataxia-telangiectasia-clinical-case
#5
Felipe Ruiz-Botero, Juliet T Rodríguez-Guerrero
INTRODUCTION: The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes in the cell cycle, DNA repair and apoptosis. The objective of this article is to report the case of a patient with ataxia telangiectasia syndrome, caused by a mutation not previously reported in the literature...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28866611/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability
#6
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson
BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify other physicians caring for patients with variants in CHD1...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28856174/a-rare-syndrome-of-grid2-deletion-in-2-siblings
#7
Aravindhan Veerapandiyan, Stephanie Enner, Venkatraman Thulasi, Xue Ming
The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28845182/a-case-report-of-a-37-year-old-alzheimer-s-disease-patient-with-prominent-striatum-amyloid-retention
#8
Yoo Hyun Um, Woo Hee Choi, Won Sang Jung, Young Ha Park, Chang-Uk Lee, Hyun Kook Lim
With recent advancement in amyloid imaging, diagnostic application of this new modality has become a great interest among researchers. New ligands, such as 18F- florbetaben, florbetapir and flutemetamol, have been discovered to overcome limitations of preexisting ligand Pittsburgh compound B. We report here a case of a 37-year-old male patient whose initial complaints comprised of gradual cognitive decline, apraxia, disorientation and sleep disturbances. 18F-Florbetaben amyloid imaging of the patient showed diffuse amyloid retention with prominent striatal uptake...
July 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28844701/gestural-apraxia
#9
REVIEW
F Etcharry-Bouyx, D Le Gall, C Jarry, F Osiurak
Gestural apraxia was first described in 1905 by Hugo Karl Liepmann. While his description is still used, the actual terms are often confusing. The cognitive approach using models proposes thinking of the condition in terms of production and conceptual knowledge. The underlying cognitive processes are still being debated, as are also the optimal ways to assess them. Several neuroimaging studies have revealed the involvement of a left-lateralized frontoparietal network, with preferential activation of the superior parietal lobe, intraparietal sulcus and inferior parietal cortex...
August 24, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28844393/pure-apraxia-of-speech-due-to-infarct-in-premotor-cortex
#10
Riddhi Patira, Lauren Ciniglia, Timothy Calvert, Eric L Altschuler
Apraxia of speech (AOS) is now recognized as an articulation disorder distinct from dysarthria and aphasia. Various lesions have been associated with AOS in studies that are limited in precise localization due to variability in size and type of pathology. We present a case of pure AOS in setting of an acute stroke to localize more precisely than ever before the brain area responsible for AOS, dorsal premotor cortex (dPMC). The dPMC is in unique position to plan and coordinate speech production by virtue of its connection with nearby motor cortex harboring corticobulbar tract, supplementary motor area, inferior frontal operculum, and temporo-parietal area via the dorsal stream of dual-stream model of speech processing...
August 18, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28837826/botulinum-toxin-in-parkinsonism-the-when-how-and-which-for-botulinum-toxin-injections
#11
Francisco Cardoso
The aim of this article is to provide a review of the use of injections of botulinum toxin in the management of selected symptoms and signs of Parkinson's disease and other forms of parkinsonism. Sialorrhea is defined as inability to control oral secretions, resulting in excessive saliva in the oropharynx. There is a high level of evidence for the treatment of sialorrhea in parkinsonism with injections of different forms of botulinum toxin type A as well as botulinum toxin type B. Tremor can be improved by the use of botulinum toxin injections but improved tremor control often leads to concomitant motor weakness, limiting its use...
August 23, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28832001/acquired-epileptic-opercular-syndrome-related-to-a-heterozygous-deleterious-substitution-in-grin2a
#12
Claudine Sculier, Anne-Sophie Tilmant, Xavier De Tiège, Sanda Giurgea, Philippe Paquier, Gabrielle Rudolf, Gaetan Lesca, Patrick Van Bogaert
Epileptic encephalopathies with continuous spike-and-waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity. Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6-year-old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS...
August 23, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28828534/finger-tapping-and-verbal-fluency-post-tap-test-improvement-in-inph-its-value-in-differential-diagnosis-and-shunt-treatment-outcomes-prognosis
#13
Evangelia Liouta, Stylianos Gatzonis, Theodosis Kalamatianos, Aristotelis Kalyvas, Christos Koutsarnakis, Faidon Liakos, Christos Anagnostopoulos, Spyridon Komaitis, Dimitris Giakoumettis, George Stranjalis
BACKGROUND: Idiopathic normal pressure hydrocephalus (INPH) diagnosis is challenging as it can be mimicked by other neurological conditions, such as neurodegenerative dementia and motor syndromes. Additionally, outcomes after lumbar puncture (LP) tap test and shunt treatment may vary due to the lack of a common protocol in INPH assessment. The present study aimed to assess whether a post-LP test amelioration of frontal cognitive dysfunctions, characterizing this syndrome, can differentiate INPH from similar neurological conditions and whether this improvement can predict INPH post-shunt outcomes...
August 21, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28821613/the-rir-motif-in-the-scaffold-protein-xrcc1-mediates-a-low-affinity-interaction-with-polynucleotide-kinase-phosphatase-pnkp-during-dna-single-strand-break-repair
#14
Claire Breslin, Rajam S Mani, Mesfin Fanta, Nicolas Hoch, Michael Weinfeld, Keith W Caldecott
The scaffold protein X-ray repair cross-complementing 1 (XRCC1) interacts with multiple enzymes involved in DNA base excision repair and single-strand break repair (SSBR) and is important for genetic integrity and normal neurological function. One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ)...
August 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28813088/cognitive-dysfunction-in-corticobasal-degeneration
#15
Laís Machado de Oliveira, Igor Barcellos, Hélio A G Teive, Renato Puppi Munhoz
Corticobasal degeneration (CBD) was originally described as a distinct clinicopathological entity in 1967. Since then, different phenotypic presentations have emerged as possible manifestations of CBD histopathological findings. In addition, pathophysiological findings and the molecular basis have been delineated and several aspects of its cognitive manifestations have been clarified. Thus, not only the spectrum of what is currently designated as CBD has expanded, but overlap with other degenerative and even secondary disorders has made clinical diagnostic certainty even more challenging in the absence of specific and readily-available markers...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28781152/speech-and-language-translating-the-genome
#16
REVIEW
Pelagia Deriziotis, Simon E Fisher
Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders...
August 3, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28769865/eyelid-dysfunction-in-neurodegenerative-neurogenetic-and-neurometabolic-disease
#17
REVIEW
Ali G Hamedani, Daniel R Gold
Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid dysfunction can also be a distinguishing feature of neurodegenerative disease and complements eye movement abnormalities in helping us to understand their pathophysiology. In this review, we summarize the various eyelid abnormalities that can occur in neurodegenerative, neurogenetic, and neurometabolic diseases...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#18
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28766954/dysphagia-in-rett-syndrome-a-descriptive-study
#19
Chiara Mezzedimi, Walter Livi, Claudio De Felice, Serena Cocca
OBJECTIVES: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. METHODS: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS...
September 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28765808/altered-praxis-network-underlying-limb-kinetic-apraxia-in-parkinson-s-disease-an-fmri-study
#20
Stefanie Kübel, Katharina Stegmayer, Tim Vanbellingen, Manuela Pastore-Wapp, Manuel Bertschi, Jean-Marc Burgunder, Eugenio Abela, Bruno Weder, Sebastian Walther, Stephan Bohlhalter
Parkinson's disease (PD) patients frequently suffer from dexterous deficits impeding activities of daily living. There is controversy whether impaired fine motor skill may stem from limb kinetic apraxia (LKA) rather than bradykinesia. Based on classical models of limb praxis LKA is thought to result when premotor transmission of time-space information of skilled movements to primary motor representations is interrupted. Therefore, using functional magnetic resonance imaging (fMRI) we tested the hypothesis that dexterous deficits in PD are associated with altered activity and connectivity in left parieto-premotor praxis network...
2017: NeuroImage: Clinical
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