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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

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

Eur J Neurol 2021 Jan 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Am J Hum Genet 2019 04 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and subtle posterior fossa abnormalities) to a single locus in which a founder homozygous truncating variant in FAM149B1 was identified by exome sequencing. We subsequently identified a third Arab consanguineous multiplex family in which the phenotype of Joubert syndrome/oral-facial-digital syndrome (OFD VI) was found to co-segregate with the same founder variant in FAM149B1. Read More

Neuroimage Clin 2018 5;19:454-465. Epub 2018 Apr 5.

Psychiatric Neuroimaging Program, Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.

The () gene was identified in 2002 as responsible for XLAG syndrome, a lissencephaly characterized by an almost complete absence of cortical GABAergic interneurons, and for milder forms of X-linked Intellectual Disability (ID) without apparent brain abnormalities. The most frequent mutation found in the gene, a duplication of 24 base pairs (c.429_452dup24) in exon 2, results in a recognizable syndrome in which patients present ID without primary motor impairment, but with a very specific upper limb distal motor apraxia associated with a pathognomonic hand-grip, described as developmental Limb Kinetic Apraxia (LKA). Read More

Neurocase 2018 06 8;24(3):133-139. Epub 2018 Jun 8.

a Neuropsychology and Language Disorders Unit, Department of Neurology , School of Medicine, National and Kapodistrian University of Athens , Greece.

A 74 year-old woman (MD), free of previous neurological history, presented with difficulty in handling cutlery, clothes, writing with what was initially described as an atypical apraxia in acts related to space. Initial neurological evaluation revealed mixed, asymmetric pyramidal, and extrapyramidal semiology. Νeuropsychological testing revealed dressing and constructional deficits, ideomotor apraxia and signs of executive dysfunction in absence of memory, language, and visual perception pathology. Read More

Eur J Vasc Endovasc Surg 2018 06 22;55(6):861-866. Epub 2018 Apr 22.

European Vascular Centre Aachen-Maastricht, Department of Vascular Surgery, University Hospital RWTH Aachen, Aachen, Germany.

Objective: The safety and feasibility of supra-aortic debranching as part of endovascular aortic surgery or as a treatment option for arterial occlusive disease (AOD) remains controversial. The aim of this study was to assess the clinical outcome of this surgery.

Methods: This single centre, retrospective study included 107 patients (mean age 69. Read More

Parkinsonism Relat Disord 2018 09 10;54:103-106. Epub 2018 Apr 10.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:

Objective: To characterise the distinctive eye movement disorder and the sleep-related dyskinesia in Adenylate cyclase 5 (ADCY5) related disease.

Methods: Formal eye movement examination and video-polysomnography in a cohort of patients with ADCY5 mutations.

Results: All three patients had an eye movement disorder characterised by oculomotor apraxia with gaze limitation most prominently in the vertical plane. Read More

Clin J Am Soc Nephrol 2017 Dec 16;12(12):1974-1983. Epub 2017 Nov 16.

Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.

Background And Objectives: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes ( to ) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. Read More

Prion 2017 11 13;11(6):440-453. Epub 2017 Nov 13.

b Department of Nuclear Medicine , Nîmes University Hospital , Nîmes , France.

Objective: To assess the relationship between clinical pattern and cerebral glucose metabolism on [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) in Creutzfeldt-Jakob disease (CJD).

Methods: Predefined clinical signs (ataxia, visual, pyramidal, myoclonus, limb apraxia, limb dystonia, sensory, parkinsonism, and corticobasal syndrome [CBS]) and FDG-PET data were assessed in consecutive CJD patients. Two types of statistical parametric mapping (SPM) analyses, using stringent level of significance p < 0. Read More

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Read More

Epileptic Disord 2017 Sep;19(3):345-350

Laboratoire de Cartographie Fonctionnelle du Cerveau, Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Department of Pediatric Neurology, Centre Hospitalier Universitaire d'Angers, Angers, France.

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. Read More

Med Sci Monit 2017 Apr 9;23:1719-1724. Epub 2017 Apr 9.

Department of Ophthalmology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China (mainland).

BACKGROUND The etiology of strabismus has a genetic component. Our study aimed to localize the candidate causative gene mutant in a Chinese family with strabismus and to describe its underlying etiology. MATERIAL AND METHODS Genomic DNA was extracted from the affected individual and his parents in a Chinese pedigree with strabismus. Read More