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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
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
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
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...
October 5, 2016: Clinical Nuclear Medicine
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
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 yeastsen1ΔN mutant (N terminal truncation)...
October 8, 2016: FEBS Journal
Bronwyn Carrigg, Louise Parry, Elise Baker, Lawrence D Shriberg, Kirrie J Ballard
OBJECTIVE: This study describes the phenotype in a large family with a strong, multigenerational history of severe speech sound disorder (SSD) persisting into adolescence and adulthood in approximately half the cases. Aims were to determine whether a core phenotype, broader than speech, separated persistent from resolved SSD cases; and to ascertain the uniqueness of the phenotype relative to published cases. METHOD: Eleven members of the PM family (9-55 years) were assessed across cognitive, language, literacy, speech, phonological processing, numeracy, and motor domains...
October 5, 2016: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
Étienne Ojardias, Oscar Azeo, Diana Rimaud, Pascal Giraux
OBJECTIVE: Transcortical direct current stimulation (tDCS) is an emerging technique in the rehabilitation of hemiplegic patients after stroke, and has been mainly evaluated for the upper limb. The feasibility and tolerance of the use of repeated stimulations on the lower limb motor cortex require a clinical evaluation. OBSERVATIONS: A 72-year-old patient, who suffered from a first ischemic stroke in the left middle cerebral artery area, on July 2015, was admitted, 6 months post-stroke, to the PRM outpatient clinic of the university hospital of Saint-Étienne, for a motor training program combined with iterative tDCS stimulations...
September 2016: Annals of Physical and Rehabilitation Medicine
Benjamin Ingraham, David L Ripley
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Haifa A Bin Dahman, Abdul-Hakeem M Bin Mubaireek, Zain H Alhaddad
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newborn with mild hypotonia, abnormal pattern of respiration, abnormal eye movements and molar tooth sign on brain CT scan...
2016: Sudan J Paediatr
Cong Lu, Yi-Cen Zheng, Yi Dong, Hong-Fu Li
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities, most likely due to the degeneration of cerebellum, brainstem, and spinal cord. Despite of the rarity, ARCA are both clinically and genetically heterogeneous. To date, more than 30 culprit genes have been identified in ARCA. Unraveling the specific causative mutation in cases with ARCA remains challenging so far...
2016: BMC Neurology
Andreas Johnen, Lisa Brandstetter, Christian Kärgel, Heinz Wiendl, Hubertus Lohmann, Thomas Duning
Limb apraxia denotes a cognitive impairment of gesture production. Lesion studies in patients with stroke point towards distinct neural processing streams for limb imitation and object-pantomime within left parietal and temporal cortex, respectively. Despite its frequent occurrence as an early symptom in both, Alzheimer's dementia (AD) and behavioural variant frontotemporal dementia (bvFTD), neural correlates of limb apraxia within these patient groups remain unexplored. Using voxel-based morphometry and multiple regression models, associations between limb apraxia and gray matter (GM) volume were investigated in 36 dementia patients (18 AD, 18 bvFTD) in early disease stages...
August 26, 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Jonathan L Preston, Megan C Leece, Edwin Maas
Ultrasound imaging is an adjunct to traditional speech therapy that has shown to be beneficial in the remediation of speech sound errors. Ultrasound biofeedback can be utilized during therapy to provide clients with additional knowledge about their tongue shapes when attempting to produce sounds that are erroneous. The additional feedback may assist children with childhood apraxia of speech (CAS) in stabilizing motor patterns, thereby facilitating more consistent and accurate productions of sounds and syllables...
2016: Frontiers in Human Neuroscience
Tim Vanbellingen, Manuela Wapp, Katharina Stegmayer, Manuel Bertschi, Eugenio Abela, Stefanie Kübel, Thomas Nyffeler, René Müri, Sebastian Walther, Tobias Nef, Mark Hallett, Stephan Bohlhalter
Dorsal pre-motor cortex (PMd) is thought to play a role in fine motor control. The aim of the present study was to investigate whether inhibitory or excitatory stimulation of PMd would have an impact on manual dexterity in Parkinson's disease (PD). Fifteen patients with PD participated in this study. High resolution structural MRI was used for neuro-navigated TBS. Participants were targeted with one train of TBS in three experimental sessions: sham stimulation over vertex, continuous TBS (cTBS) over PMd and intermittent TBS (iTBS) over PMd, respectively...
September 12, 2016: Journal of Neural Transmission
Chizoba C Umeh, Piyush Kalakoti, Michael K Greenberg, Silvio Notari, Yvonne Cohen, Pierluigi Gambetti, Adrian L Oblak, Bernardino Ghetti, Zoltan Mari
Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L mutation associated with a phenotype characterized by rapidly progressing parkinsonism-dystonia. The patient was studied clinically (videotaped exams, brain MRIs); molecular genetically (gene sequence analysis); and neuropathologically (histology, immunohistochemistry) during his 7-month disease course...
July 2016: Movement Disorders Clinical Practice
Kenji Ogawa, Fumihito Imai
Previous neuropsychological studies of ideomotor apraxia (IMA) indicated impairments in pantomime actions for tool use for both right and left hands following lesions of parieto-premotor cortices in the left hemisphere. Using functional magnetic resonance imaging (fMRI) with multi-voxel pattern analysis (MVPA), we tested the hypothesis that the left parieto-premotor cortices are involved in the storage or retrieval of hand-independent representation of tool-use actions. In the fMRI scanner, one of three kinds of tools was displayed in pictures or letters, and the participants made pantomimes of the use of these tools using the right hand for the picture stimuli or with the left hand for the letters...
September 3, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Katarzyna Ewa Polanowska, Iwona Pietrzyk-Krawczyk
Apraxia of speech (AOS) is a motor speech disorder, most typically caused by stroke, which in its "pure" form (without other speech-language deficits) is very rare in clinical practice. Because some observable characteristics of AOS overlap with more common verbal communication neurologic syndromes (i.e. aphasia, dysarthria) distinguishing them may be difficult. The present study describes AOS in a 49-year-old right-handed male after left-hemispheric stroke. Analysis of his articulatory and prosodic abnormalities in the context of intact communicative abilities as well as description of symptoms dynamics over time provides valuable information for clinical diagnosis of this specific disorder and prognosis for its recovery...
August 23, 2016: Neurologia i Neurochirurgia Polska
Alessandro Trebbastoni, Fabrizia D'Antonio, Carlo de Lena, Emanuela Onesti, Bev John, Maurizio Inghilleri
Orofacial apraxia (OA) as the main symptom in neurodegenerative disorders has not been yet reported. We present the case of a woman with a 22-month long history of isolated OA, studied with cerebrospinal fluid biomarkers and repeated clinical, neuropsychological, and morpho-functional evaluations. Baseline morpho-functional neuroimages revealed a left frontal operculum hypoperfusion with a widespread fronto-temporal involvement at follow-up. Cerebrospinal fluid concentrations of tau and amyloid-β were normal...
October 4, 2016: Journal of Alzheimer's Disease: JAD
Marcelo L Berthier, Núria Roé-Vellvé, Ignacio Moreno-Torres, Carles Falcon, Karl Thurnhofer-Hemsi, José Paredes-Pacheco, María J Torres-Prioris, Irene De-Torres, Francisco Alfaro, Antonio L Gutiérrez-Cardo, Miquel Baquero, Rafael Ruiz-Cruces, Guadalupe Dávila
Foreign accent syndrome (FAS) is a speech disorder that is defined by the emergence of a peculiar manner of articulation and intonation which is perceived as foreign. In most cases of acquired FAS (AFAS) the new accent is secondary to small focal lesions involving components of the bilaterally distributed neural network for speech production. In the past few years FAS has also been described in different psychiatric conditions (conversion disorder, bipolar disorder, and schizophrenia) as well as in developmental disorders (specific language impairment, apraxia of speech)...
2016: Frontiers in Human Neuroscience
Richard A Armstrong
Corticobasal degeneration is a rare, progressive neurodegenerative disease and a member of the 'parkinsonian' group of disorders, which also includes Parkinson's disease, progressive supranuclear palsy, dementia with Lewy bodies and multiple system atrophy. The most common initial symptom is limb clumsiness, usually affecting one side of the body, with or without accompanying rigidity or tremor. Subsequently, the disease affects gait and there is a slow progression to influence ipsilateral arms and legs. Apraxia and dementia are the most common cortical signs...
August 23, 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
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