Full Text Journal Articles about
Apraxia and Related Syndromes

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A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.

Hussein Algahtani, Bader Shirah, Raghad Algahtani, Mohammad H Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer,

Ataxia telangiectasia is a hereditary multisystem disorder with a wide range of symptoms and signs. It is inherited in an autosomal recessive manner due to a mutation in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase with a domain related to a phosphatidylinositol 3-kinase (PI-3 kinase) proteins ... Read more >>

Int. J. Neurosci. (The International journal of neuroscience)
[2020, :1-6]

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Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Akella Radha Rama Devi, Shaik Mohammad Naushad, Lokesh Lingappa,

BACKGROUND:Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosis. Joubert syndrome is a clinically and genetically heterogeneous disorder involving mutations in 35 ciliopathy-related genes. We present ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2020, :]

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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia,

BACKGROUND:Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is the pathognomonic midbrain-hindbrain malformation on magnetic resonance imaging. The disorder is predominantly caused by biallelic mutations ... Read more >>

BMC Pediatr (BMC Pediatrics)
[2020, 20(1):120]

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Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature.

Parménides Guadarrama-Ortiz, José Alberto Choreño-Parra, Tania de la Rosa-Arredondo,

BACKGROUND:Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations ... Read more >>

J Med Case Rep (Journal of medical case reports)
[2020, 14(1):28]

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Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia.

David J Lewis-Smith, Noham Wolpe, Boyd C P Ghosh, James B Rowe,

Alien limb refers to movements that seem purposeful but are independent of patients' reported intentions. Alien limb often co-occurs with apraxia in the corticobasal syndrome, and anatomical and phenomenological comparisons have led to the suggestion that alien limb and apraxia may be causally related as failures of goal-directed movements. Here, ... Read more >>

J. Neurol. (Journal of neurology)
[2020, 267(4):1147-1157]

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A Neuro-ontology for the neurological examination.

Daniel B Hier, Steven U Brint,

BACKGROUND:The use of clinical data in electronic health records for machine-learning or data analytics depends on the conversion of free text into machine-readable codes. We have examined the feasibility of capturing the neurological examination as machine-readable codes based on UMLS Metathesaurus concepts. METHODS:We created a target ontology for capturing the ... Read more >>

BMC Med Inform Decis Mak (BMC medical informatics and decision making)
[2020, 20(1):47]

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Rapid Eye Movement Sleep Behavior Disorder and Neurodegenerative Diseases: An Update.

Feng Zhang, Long Niu, Xinyao Liu, Yufei Liu, Song Li, Huan Yu, Weidong Le,

Rapid eye movement sleep behavior disorder (RBD) is a sleep behavior disorder characterized by abnormal behaviors and loss of muscle atonia during rapid eye movement (REM) sleep. RBD is generally considered to be associated with synucleinopathies, such as Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy ... Read more >>

Aging Dis (Aging and Disease)
[2020, 11(2):315-326]

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CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy.

Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel,

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the first three months of life and most often ... Read more >>

Brain Sci (Brain sciences)
[2020, 10(2):]

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Classification of primary progressive aphasia: challenges and complexities.

Donna C Tippett,

Primary progressive aphasia (PPA) is classified into three variants, logopenic variant PPA (lvPPA), nonfluent agrammatic PPA (nfaPPA), and semantic variant PPA (svPPA), based on clinical (syndromic) characteristics with support from neuroimaging and/or underlying neuropathology. Classification of PPA variants provides information valuable to disease management. International consensus criteria are widely employed ... Read more >>

F1000Res (F1000Research)
[2020, 9:]

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Agency judgments in post-stroke patients with sensorimotor deficits.

Yu Miyawaki, Takeshi Otani, Shu Morioka,

Sense of agency refers to the feeling of being in control of one's actions. Previous research has demonstrated that sense of agency is produced through the sensorimotor system, which is involved in comparing internal predictions with sensory feedback in motor control. Therefore, sensorimotor deficits might impair agency through a sensorimotor ... Read more >>

PLoS ONE (PloS one)
[2020, 15(3):e0230603]

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Spontaneous Intracranial Hypotension: Case Study and Review of the Literature.

Stacey Podkovik, Samir Kashyap, Sruthi Bonda, Ira Bowen, Mark Calayag,

Spontaneous intracranial hypotension (SIH) is a pathology characterized by orthostatic headaches, diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI), and low to normal cerebrospinal fluid (CSF) pressures. We present the case of a 46-year-old male with refractory postural headaches, found to have a diffuse CSF leak throughout the cervicothoracic (C1-T12) ... Read more >>

Cureus (Cureus)
[2020, 12(2):e7018]

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A Rare Mutation in The APOB Gene Associated with Neurological Manifestations in Familial Hypobetalipoproteinemia.

Joanna Musialik, Anna Boguszewska-Chachulska, Dorota Pojda-Wilczek, Agnieszka Gorzkowska, Robert Szymańczak, Magdalena Kania, Agata Kujawa-Szewieczek, Małgorzata Wojcieszyn, Marek Hartleb, Andrzej Więcek,

Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic analysis of the APOB gene and ophthalmological diagnostics were performed for family members with FHBL. Five ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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Dissociation between frontal and temporal-parietal contributions to connected speech in acute stroke.

Junhua Ding, Randi C Martin, A Cris Hamilton, Tatiana T Schnur,

Humans are uniquely able to retrieve and combine words into syntactic structure to produce connected speech. Previous identification of focal brain regions necessary for production focused primarily on associations with the content produced by speakers with chronic stroke, where function may have shifted to other regions after reorganization occurred. Here, ... Read more >>

Brain (Brain : a journal of neurology)
[2020, 143(3):862-876]

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Brain activation induced by different strengths of hand grasp: a functional magnetic resonance imaging study.

Hyeok Gyu Kwon, Ju Sang Kim, Mi Young Lee,

Mirror neuron system can be activated by observation and execution of an action. It has an important function of action understanding. We investigated brain activations in humans by observing the strength of a hand grasp using functional magnetic resonance imaging. Twenty right-handed healthy individuals, consisting of 10 males and 10 ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(5):875-879]

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PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Young-Eun Kim, Hanna Cho, Hee Jin Kim, Duk L Na, Sang Won Seo, Chang-Seok Ki,

Pathogenic variants in the PSEN1 gene are known to be the most common cause of early-onset Alzheimer's disease but there are few data on the frequency and spectrum of PSEN1 variants in Korea. In this study, we investigated PSEN1 variants in a consecutive series of clinically suspicious early-onset familial AD ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):3480]

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Diffusion MRI Findings in Encephalopathy Induced by Immunosuppressive Therapy after Liver Transplantation.

Emanuele Tinelli, Nicoletta Locuratolo, Alberto Pierallini, Massimo Rossi, Francesco Fattapposta,

Neurological complications are common after liver transplantation, as they affect up to one-third of the transplanted patients and are associated with significant morbidity. The introduction of calcineurin inhibitors, cyclosporine A and tacrolimus, in immunosuppressive regimens significantly improved the outcome of solid-organ transplantation even though immunosuppression-associated neurotoxicity remains a significant complication, ... Read more >>

Case Rep Med (Case reports in medicine)
[2020, 2020:1015385]

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Adolf Meyer: the neuroanatomist and neuropsychiatrist behind Meyer's loop and its significance in neurosurgery.

Olaf E M G Schijns, Peter J Koehler,

Brain (Brain : a journal of neurology)
[2020, 143(3):1039-1044]

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Barriers and Facilitators That Influence Telemedicine-Based, Real-Time, Online Consultation at Patients' Homes: Systematic Literature Review.

Hassan Khader Y Almathami, Khin Than Win, Elena Vlahu-Gjorgievska,

BACKGROUND:Health care providers are adopting information and communication technologies (ICTs) to enhance their services. Telemedicine is one of the services that rely heavily on ICTs to enable remote patients to communicate with health care professionals; in this case, the patient communicates with the health care professional for a follow-up or ... Read more >>

J. Med. Internet Res. (Journal of medical Internet research)
[2020, 22(2):e16407]

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Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia

David Lewis-Smith, Noham Wolpe, Boyd CP Ghosh, James Rowe,

Alien limb refers to movements that seem purposeful but are independent of patients' reported intentions. Alien limb often co-occurs with apraxia in the corticobasal syndrome, and anatomical and phenomenological comparisons have led to the suggestion that alien limb and apraxia may be causally related as failures of goal-directed movements. Here, ... Read more >>

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Factors associated with successful home discharge after inpatient rehabilitation in frail older stroke patients.

Tom P M M Vluggen, Jolanda C M van Haastregt, Frans E S Tan, Gertrudis I J M Kempen, Jos M G A Schols, Jeanine A Verbunt,

BACKGROUND:Stroke is a highly prevalent disease among older people and can have a major impact on daily functioning and quality of life. When community-dwelling older people are hospitalized due to stroke, discharge to an intermediate care facility for geriatric rehabilitation is indicated when return to the previous living situation is ... Read more >>

BMC Geriatr (BMC geriatrics)
[2020, 20(1):25]

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The effects of cerebrospinal fluid tap-test on idiopathic normal pressure hydrocephalus: an inertial sensors based assessment.

Alberto Ferrari, David Milletti, Giulia Giannini, Sabina Cevoli, Federico Oppi, Giorgio Palandri, Luca Albini-Riccioli, Paolo Mantovani, Laura Anderlucci, Pietro Cortelli, Lorenzo Chiari,

BACKGROUND:Gait disturbances are typical of persons with idiopathic normal pressure hydrocephalus (iNPH) without signs distinctive from other neurodegenerative and vascular conditions. Cerebrospinal fluid tap-test (CSF-TT) is expected to improve the motor performance of iNPH patients and is a prognostic indicator in their surgical management. This observational prospective study aims to ... Read more >>

J Neuroeng Rehabil (Journal of neuroengineering and rehabilitation)
[2020, 17(1):7]

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"Feasibility and utility of a simple computerized test for measuring saccade latency in progressive supranuclear palsy- a proof-of-concept study".

Marian L Dale, Emmi P Scott, Saher Khalid, Andrew S Eiseman, Travis H Turner,

Background:Reliable detection of slowed vertical saccades may help discriminate progressive supranuclear palsy (PSP) from the subset of Parkinson's disease patients who lack tremor (akinetic-rigid or PD-postural instability and gait disorder PIGD subtype), and from age-related oculomotor changes. We investigated the feasibility of a camera-less computerized behavioral saccade latency paradigm previously ... Read more >>

J Clin Mov Disord (Journal of clinical movement disorders)
[2019, 6:6]

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Posterior Reversible Encephalopathy Syndrome: Clinical Features and Outcome.

Archana Hinduja,

Background: Posterior reversible encephalopathy syndrome (PRES) is an acute neurotoxic syndrome that is characterized by a spectrum neurological and radiological feature from various risk factors. Common neurological symptoms includes headache, impairment in level of consciousness, seizures, visual disturbances, and focal neurological deficits. Common triggering factors include blood pressure fluctuations, renal ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:71]

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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - An unusual cause of dementia.

Sigrid Klotz, Franz Riederer, Nora Hergovich, Thomas Schlager, Lara Steinkellner, Elisabeth Fertl, Cristoph Baumgartner, Alexander Zimprich, Ellen Gelpi,

Clin. Neuropathol. (Clinical neuropathology)
[2020, 39(1):4-6]

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Physical Activity Is Associated With Better Executive Function in University Students.

Diana Salas-Gomez, Mario Fernandez-Gorgojo, Ana Pozueta, Isabel Diaz-Ceballos, Maider Lamarain, Carmen Perez, Martha Kazimierczak, Pascual Sanchez-Juan,

Introduction: In recent years, the study of the benefits that physical exercise has on brain health has acquired special relevance. In order to implement exercise as an intervention to protect the brain, it is important to have a more clear idea of its effect in the young population. However, few ... Read more >>

Front Hum Neurosci (Frontiers in human neuroscience)
[2020, 14:11]

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