192 results match your criteria Apraxia and Related Syndromes

Neuropathology and emerging biomarkers in corticobasal syndrome.

J Neurol Neurosurg Psychiatry 2022 Jun 13. Epub 2022 Jun 13.

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.

Corticobasal syndrome (CBS) is a clinical syndrome characterised by progressive asymmetric limb rigidity and apraxia with dystonia, myoclonus, cortical sensory loss and alien limb phenomenon. Corticobasal degeneration (CBD) is one of the most common underlying pathologies of CBS, but other disorders, such as progressive supranuclear palsy (PSP), Alzheimer's disease (AD) and frontotemporal lobar degeneration with TDP-43 inclusions, are also associated with this syndrome.In this review, we describe common and rare neuropathological findings in CBS, including tauopathies, synucleinopathies, TDP-43 proteinopathies, fused in sarcoma proteinopathy, prion disease (Creutzfeldt-Jakob disease) and cerebrovascular disease, based on a narrative review of the literature and clinicopathological studies from two brain banks. Read More

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The unique role of the frontal aslant tract in speech and language processing.

Neuroimage Clin 2022 26;34:103020. Epub 2022 Apr 26.

Center for Language, Imaging, Mind & Brain, VA Northern California Healthcare System, Martinez, CA, USA; Aphasia Recovery Lab, Department of Psychology, University of California, Berkeley, CA, USA. Electronic address:

The frontal aslant tract (FAT) is a recently described intralobar tract that connects the superior and inferior frontal gyri. The FAT has been implicated in various speech and language processes and disorders, including motor speech impairments, stuttering disorders, opercular syndrome, and verbal fluency, but the specific function(s) of the FAT have yet to be elucidated. In the current study, we aimed to address this knowledge gap by investigating the underlying role that the FAT plays in motor aspects of speech and language abilities in post-stroke aphasia. Read More

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NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder.

J Neurol 2022 07 14;269(7):3931-3936. Epub 2022 Mar 14.

Department of Neurology, University Hospital Schleswig-Holstein, Campus LübeckRatzeburger Allee 160, 23538, Lübeck, Germany.

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Neurological management and work-up of neurotoxicity associated with CAR T cell therapy.

Neurol Res Pract 2022 Jan 10;4(1). Epub 2022 Jan 10.

Department of Neurology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625, Hannover, Germany.

Introduction: Treatment with CD19 chimeric antigen receptor (CAR) T cells is an innovative therapeutic approach for patients with relapsed/refractory diffuse large B cell lymphoma (r/rDLBCL) and B-lineage acute lymphoblastic leukemia (r/rALL). However, convincing therapeutic response rates can be accompanied by cytokine release syndrome (CRS) and severe neurotoxicity termed immune effector cell-associated neurotoxicity syndrome (ICANS).

Methods: Single center, prospective observational study of fifteen consecutive r/r DLBCL patients treated with Tisagenlecleucel within 1 year at Hannover Medical School. Read More

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January 2022

Distinct cognitive components and their neural substrates underlying praxis and language deficits following left hemisphere stroke.

Cortex 2022 01 20;146:200-215. Epub 2021 Nov 20.

Cognitive Neuroscience, Institute of Neuroscience and Medicine (INM-3), Forschungszentrum Jülich, Jülich, Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology, Cologne, Germany.

Apraxia is characterised by multiple deficits of higher motor functions, primarily caused by left hemisphere (LH) lesions to parietal-frontal praxis networks. While previous neuropsychological and lesion studies tried to relate the various apraxic deficits to specific lesion sites, a comprehensive analysis of the different apraxia profiles and the related (impaired) motor-cognitive processes as well as their differential neural substrates in LH stroke is lacking. To reveal the cognitive mechanisms that underlie the different patterns of praxis and (related) language deficits, we applied principal component analysis (PCA) to the scores of sub-acute LH stroke patients (n = 91) in several tests of apraxia and aphasia. Read More

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January 2022

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Cerebellum 2021 Nov 30. Epub 2021 Nov 30.

Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.

Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific cerebellar and brainstem malformation recognizable on brain imaging as the "molar tooth sign" (MTS). Clinical signs include hypotonia, developmental delay, breathing abnormalities, and ocular motor apraxia. Older patients develop ataxia, intellectual impairment, and variable organ involvement. Read More

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November 2021

Case Report: Concomitant Alzheimer's and Lewy-Related Pathology Extending the Spectrum of Underlying Pathologies of Corticobasal Syndrome.

Front Neurosci 2021 3;15:742042. Epub 2021 Nov 3.

Department of Neurology, University Hospital, Palacky University, Olomouc, Czechia.

Corticobasal syndrome (CBS) is clinically characterized by progressive asymmetric rigidity and apraxia together with symptoms suggestive of cortical involvement and basal ganglia dysfunction. The spectrum of neurodegenerative diseases that can manifest with CBS is wide. The associations of CBS with corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, frontotemporal lobar degenerations, Creutzfeldt-Jakob disease, or diffuse Lewy body pathology have been reported. Read More

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November 2021

Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.

Brain Dev 2022 Feb 5;44(2):161-165. Epub 2021 Nov 5.

Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.

Background: Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, Joubert syndrome (JS), and JS-related disorders (JSRD) with additional organ involvement including oral-facial-digital syndrome and so on. They often share common and unexpected phenotypic features.

Case Presentation: We report a 4-year-old-boy case with compound heterozygous variants of ADAMTS9. Read More

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February 2022

Metabolic and Structural Signatures of Speech and Language Impairment in Corticobasal Syndrome: A Multimodal PET/MRI Study.

Front Neurol 2021 30;12:702052. Epub 2021 Aug 30.

Laboratory of Nuclear Medicine, Nuclear Medicine Center and Division, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Corticobasal syndrome (CBS) is a progressive neurological disorder related to multiple underlying pathologies, including four-repeat tauopathies, such as corticobasal degeneration and progressive supranuclear palsy, and Alzheimer's disease (AD). Speech and language are commonly impaired, encompassing a broad spectrum of deficits. We aimed to investigate CBS speech and language impairment patterns in light of a multimodal imaging approach. Read More

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A case of aphemia following non-dominant sub-insular stroke: unveiling the Foix-Chavany-Marie phenomenon.

Neurocase 2021 06 27;27(3):281-286. Epub 2021 Jun 27.

Neurology and Radiology, Associate Dean for Continuing Medical Education, Washington University School of Medicine, St. Louis, MO, USA.

Aphemia refers to the clinical syndrome of inability to orally produce speech with intact comprehension and written expression. Aphemia has been primarily reported in dominant frontal lobe strokes resulting in apraxia of speech (AoS), and in Foix-Chavany-Marie (FCM) syndrome where bilateral opercular or sub-opercular lesions result in anarthria due to deafferentation of brainstem nuclei supplying the oro-facio-lingual and pharyngeal musculature. Aphemia is not reported in non-dominant sub-insular strokes. Read More

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Dr. Strangelove demystified: Disconnection of hand and language dominance explains alien-hand syndrome after corpus callosotomy.

Seizure 2021 Mar 16;86:147-151. Epub 2021 Feb 16.

Department of Neurosurgery, Geneva University Medical Center & Faculty of Medicine, Geneva, Switzerland.

Background: Alien hand syndrome (AHS) is a disabling condition in which one hand behaves in a way that the person finds "alien". This feeling of alienation is related to the occurrence of movements of the respective hand performed without or against conscious intention. Most information on AHS stems from single case observations in patients with frontal, callosal, or parietal brain damage. Read More

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Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.

BMC Neurol 2021 Jan 12;21(1):17. Epub 2021 Jan 12.

Center for Neurodegenerative diseases (CEMAND), Department of Medicine, Surgery and Dentistry, Neuroscience section, University of Salerno, Baronissi, Salerno, Italy.

Background: Glucocerebrosidase (GBA) heterozygous variants are the most important genetic risk factor for the development of alpha-synucleinopathies (i.e., Parkinson's disease and Dementia with Lewy Bodies). Read More

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January 2021

Asymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area.

Neurocase 2020 12 26;26(6):328-339. Epub 2020 Oct 26.

Department of Neurology, Mitsui Memorial Hospital , Tokyo, Japan.

We report a patient with asymmetric Bálint's syndrome (predominantly right-sided oculomotor apraxia and simultanagnosia and optic ataxia for the right hemispace), and multimodal agnosia (apperceptive visual agnosia and bilateral associative tactile agnosia) with accompanying right hemianopia, bilateral agraphesthesia, hemispatial neglect, global alexia with unavailable kinesthetic reading, and lexical agraphia for kanji (Japanese morphograms), after hemorrhage in the left parieto-occipito-temporal area. The coexistence of tactile agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading suggests that tactile-kinesthetic information can be interrupted because of damage to the fiber connection from the parietal lobe to the occipito-temporal area, leading to these tactually related cognitive impairments. Read More

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December 2020

Clinical and radiological features of posterior cortical atrophy (PCA) in a GRN mutation carrier: a case report.

Eur J Neurol 2021 01 2;28(1):344-348. Epub 2020 Nov 2.

Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Background And Purpose: Posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome, defined by a distinctive clinical-radiological profile, with Alzheimer's disease (AD) pathology accounting for the majority of cases. The aim of this report was to present the case of a patient with impairment of visual and constructional abilities as initial manifestations.

Method: The patient underwent a multidimensional assessment, including neuropsychological evaluation, structural and functional imaging and genetic screening. Read More

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January 2021

The correlation between apraxia and neglect in the right hemisphere: A voxel-based lesion-symptom mapping study in 138 acute stroke patients.

Cortex 2020 11 2;132:166-179. Epub 2020 Sep 2.

Department of Neurology and Clinical Neuroscience, University Medical Center Freiburg, University of Freiburg, Freiburg i.Br., Germany; Freiburg Brain Imaging Center, University of Freiburg, Freiburg i.Br., Germany.

Apraxia is frequently described after left hemisphere stroke and results from lesions to a complex network for motor cognition with dorso-dorsal, ventro-dorsal and ventral processing streams. Apraxia also occurs after right hemisphere stroke, but lesion correlates and underlying mechanisms remain to be elucidated. To clarify the role of the right hemisphere in apraxic deficits and the influence of neglect, we prospectively examined apraxia (imitation of meaningless postures and pantomime of tool use) and neglect in 138 acute right hemisphere stroke patients with first-ever ischemic stroke in the middle cerebral artery territory and identified corresponding lesion correlates using voxel-based lesion-symptom mapping. Read More

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November 2020

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Pediatr Neurol 2020 05 4;106:43-49. Epub 2020 Feb 4.

Department of Pediatric Neurology, Rainbow Children Hospital, Hyderabad, India.

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. Read More

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

J Neurol 2020 Apr 9;267(4):1147-1157. Epub 2020 Jan 9.

Department of Clinical Neurosciences, University of Cambridge, Herchel Smith Building, Cambridge, CB2 0SZ, UK.

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, we characterised the nature of alien limb symptoms in patients with the corticobasal syndrome (n = 30) and their relationship to limb apraxia. Read More

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Personality and Motoric Cognitive Risk Syndrome.

J Am Geriatr Soc 2020 04 27;68(4):803-808. Epub 2019 Dec 27.

Department of Geriatrics, College of Medicine, Florida State University, Tallahassee, Florida.

Objectives: To examine whether five major personality traits are related to the motoric cognitive risk (MCR) syndrome, a pre-dementia syndrome characterized by cognitive complaints and slow gait speed.

Design: Cross-sectional.

Setting: Health and Retirement Study (HRS) and the National Health and Aging Trends Survey (NHATS). Read More

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The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.

Melissa A Parisi

Transl Sci Rare Dis 2019 Jul 4;4(1-2):25-49. Epub 2019 Jul 4.

Chief, Intellectual & Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the "molar tooth sign" on brain MRI. Other universal features include hypotonia with later ataxia and intellectual disability/developmental delay, with additional features consisting of oculomotor apraxia and abnormal respiratory pattern. Notably, other, more variable features include renal cystic disease, typically nephronophthisis, retinal dystrophy, and congenital hepatic fibrosis; skeletal changes such as polydactyly and findings consistent with short-rib skeletal dysplasias are also seen in many subjects. Read More

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The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Am J Med Genet C Semin Med Genet 2019 12 18;181(4):548-556. Epub 2019 Nov 18.

School of Life and Environmental Sciences, University of Sydney, Sydney, New South Wales, Australia.

The nucleosome remodeling and deacetylase (NuRD) complex is a major regulator of gene expression involved in pluripotency, lineage commitment, and corticogenesis. This important complex is composed of seven different proteins, with mutations in CHD3, CHD4, and GATAD2B being associated with neurodevelopmental disorders presenting with macrocephaly and intellectual disability similar to other overgrowth and intellectual disability (OGID) syndromes. Pathogenic variants in CHD3 and CHD4 primarily involve disruption of enzymatic function. Read More

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December 2019

Zebrafish Deficiency Impairs Retinal Patterning and Oculomotor Function.

J Neurosci 2020 01 4;40(1):143-158. Epub 2019 Nov 4.

Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia 30912,

Down syndrome cell adhesion molecules ( and ) are essential regulators of neural circuit assembly, but their roles in vertebrate neural circuit function are still mostly unexplored. We investigated the functional consequences of deficiency in the larval zebrafish (sexually undifferentiated) oculomotor system, where behavior, circuit function, and neuronal activity can be precisely quantified. Genetic perturbation of resulted in deficits in retinal patterning and light adaptation, consistent with its known roles in mammals. Read More

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January 2020

A case report on crossed aphasia in dextrals: Consideration about clinical features and neural network.

Medicine (Baltimore) 2019 Oct;98(43):e17660

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Centro Neurolesi Bonino Pulejo, Messina, Italy.

Rationale: The term crossed aphasia in dextrals (CAD) describes aphasia following a right hemisphere lesion in right-handed subjects. The diagnostic criteria for CAD, defined on the basis of clinical cases observed over the years, are aphasia; lesion in right hemisphere; strong preference for right hand use without familial history of left handedness; structural integrity of left hemisphere; and absence of brain damage in childhood. The studies of CAD have mainly been focused on the neurobiological mechanisms underlying the functional neurocognitive lateralization and organization of the brain, such as a dissociation between language and handedness, language and praxis, or other cognitive functions. Read More

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October 2019

Apraxia in children and adults with obstructive sleep apnea syndrome.

Sleep 2019 12;42(12)

Division of Orthodontics, University of California San Francisco School of Dentistry, CA.

Study Objectives: Early in life impairment of orofacial growth leads to sleep-disordered breathing (SDB). Normal lingual gnosis and praxis are part of this early development related to the normal sensorimotor development of the tongue and surrounding oral musculature. The aim of this retrospective study was to explore if lingual praxia is impaired in both SDB children and adults and if there is an association to craniofacial morphology. Read More

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December 2019

Vertical and Radial Attentional Neglect in Corticobasal Syndrome.

Cogn Behav Neurol 2019 09;32(3):208-213

Division of Cognitive and Behavioral Neurology, Department of Neurology, University of Florida College of Medicine.

Corticobasal degeneration (CBD), a tau-related neurodegenerative disease, is characterized by limb rigidity, dystonia, myoclonus, apraxia, and cognitive deficits. We report a patient with probable corticobasal syndrome, a major phenotype of CBD, who revealed both lower vertical and proximal radial attentional neglect on line bisection tests. Brain imaging revealed bilateral parietal atrophy with hypometabolism in the bilateral parietal, dorsolateral prefrontal, and premotor cortices. Read More

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September 2019

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

Brain Dev 2020 Jan 4;42(1):6-18. Epub 2019 Sep 4.

Hacettepe University, School of Medicine, Department of Child Neurology, Ankara, Turkey.

Background: The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them.

Methods: Eighty-four pediatric patients aged 0-18 years presenting to our clinic, evaluated by means of imaging, metabolic or pathological investigation, or single-gene test, in whom Friedreich's ataxia was excluded, and predicted to carry the progressive autosomal recessive ataxia gene were included in the study. Patients' demographic, clinical, laboratory, and radiological characteristics were recorded. Read More

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January 2020

Speech, language, and feeding phenotypes of SATB2-associated syndrome.

Clin Genet 2019 12 12;96(6):485-492. Epub 2019 Aug 12.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

SATB2-associated syndrome (SAS) is a recently identified disorder characterized by neurodevelopmental deficits and craniofacial anomalies. Assessments of speech, language, and feeding-related issues were conducted among 61 individuals with SAS (median age = 86 months, range = 26 months to 29 years of age). Individuals with SAS were mostly non-verbal communicators (72. Read More

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December 2019

Aprosodia and prosoplegia with right frontal neurodegeneration.

Neurocase 2019 10 23;25(5):187-194. Epub 2019 Jul 23.

Behavioral Neurology Section, Department of Neurology, University of Colorado School of Medicine; Rocky Mountain Alzheimer's Disease Center , Aurora , CO , USA.

Affective prosody and facial expression are essential components of human communication. Aprosodic syndromes are associated with focal right cerebral lesions that impair the affective-prosodic aspects of language, but are rarely identified because affective prosody is not routinely assessed by clinicians. Inability to produce emotional faces (affective prosoplegia) is a related and important aspect of affective communication has overlapping neuroanatomic substrates with affective prosody. Read More

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October 2019

Finger-counting observation interferes with number processing.

Neuropsychologia 2019 08 8;131:275-284. Epub 2019 Jun 8.

Dept. of Psychology, University of Milano-Bicocca, Milan, Italy; Neuro-Mi Center for Neuroscience, University of Milano-Bicocca, Milan, Italy.

Aim of this study was to investigate the association between finger and number representation in a task in which students had to perform arithmetic calculations and decide whether the provided solution was correct or incorrect, while a pair of task-irrelevant hands gesturally expressed the same or a different number. In particular we aimed at investigating whether irrelevant finger-counting might interfere with arithmetic computing, thus showing the existence of a strict neural association between the two processes. 20 volunteers took part to the investigation and EEG/ERPs were recorded from 128 scalp sites. Read More

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