Abstract:
:Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear. We present a case of a 34-year-old woman with early childhood onset of myoclonic jerks, dystonic posture and developmental delay due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene. Over time, she developed neuropsychiatric symptoms. She underwent bilateral deep brain stimulation of the ventral intermediate nucleus of the thalamus for her motor symptoms, which greatly improved but she exhibited slow deterioration of her neuropsychiatric and cognitive symptoms, particularly apathy, aggression and severe executive dysfunction.
journal_name
Neurocasejournal_title
Neurocaseauthors
Multani N,Moro E,Lang A,Zurowski M,Duff Canning S,Tartaglia MCdoi
10.1080/13554794.2015.1120312subject
Has Abstractpub_date
2016-01-01 00:00:00pages
215-9issue
2eissn
1355-4794issn
1465-3656journal_volume
22pub_type
杂志文章相关文献
NEUROCASE文献大全abstract::A 51-year-old right-handed man developed hypersexuality after a second right temporal lobectomy to treat epilepsy. His hypersexuality started with increased marital intercourse and masturbation but he later downloaded child pornography. Hyperphagia and distractibility, other features of the Kluver-Bucy syndrome, also ...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554790903329182
更新日期:2010-04-01 00:00:00
abstract::Dissociative identity disorder (DID) is probably the most disputed of psychiatric diagnoses and of psychological forensic evaluations in the legal arena. The iatrogenic proponents assert that DID phenomena originate from psychotherapeutic treatment while traumagenic proponents state that DID develops after severe and ...
journal_title:Neurocase
pub_type: 杂志文章,评审
doi:10.1080/13554790801992768
更新日期:2008-01-01 00:00:00
abstract::Cerebral lesions are held to induce plastic changes of the brain. Less well established, however, is how much space-occupying brain lesions may only displace functional representations. In a 66-year-old man we show, by means of functional magnetic resonance imaging and transcranial magnetic stimulation, a profound dis...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554790701849910
更新日期:2007-10-01 00:00:00
abstract::Previous research suggests that the noradrenergic system modulates flexibility of access to the lexical-semantic network, with propranolol benefiting normal subjects in lexical-semantic problem solving tasks. Patients with Broca's aphasia with anomia have impaired ability to access appropriate verbal output for a give...
journal_title:Neurocase
pub_type: 临床试验,杂志文章
doi:10.1080/13554790701595471
更新日期:2007-08-01 00:00:00
abstract::An adult female complained of enlargement of right eyes in other people. Diffusion-weighted imaging detected an abnormal high-intensity area in the region from the splenium of the corpus callosum to the major forceps on the right side. The patient reported that right eyes appeared larger in size, which suggested proso...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2020.1797819
更新日期:2020-10-01 00:00:00
abstract::Both prosody and sentence structure (e.g., canonical versus non-canonical) affect sentence comprehension. However, few previous studies have examined a possible interaction between prosody and sentence structure. In adult controls we found a significant interaction: typical sentence prosody, versus list prosody, facil...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2019.1630447
更新日期:2019-01-01 00:00:00
abstract::The frontal midline structures have been demonstrated by functional neuroimaging to be involved in the affective control of human behavior. However, due to the rareness of diseases affecting this part of the brain little is known about behavioral abnormalities following damage to these brain areas. We present a patien...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554790701494964
更新日期:2007-06-01 00:00:00
abstract::Short melodies are commonly linked to referents in jingles, ringtones, movie themes, and even auditory displays (i.e., sounds used in human-computer interactions). While melody associations can be quite effective, auditory alarms in medical devices are generally poorly learned and highly confused. Here, we draw on app...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2016.1253751
更新日期:2016-12-01 00:00:00
abstract::Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and a...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2011.654215
更新日期:2013-01-01 00:00:00
abstract::We summarize two case studies as a context for discussing the use of neuroimaging as a convergent methodology in the study of neuroplasticity in single subjects. Throughout this paper we argue for a different approach for including neuroimaging in these types of study. Previous case studies of neuroplasticity in patie...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1076/neur.8.4.355.16187
更新日期:2002-01-01 00:00:00
abstract::The brain's primary motor and primary somatosensory cortices are generally viewed as functionally distinct entities. Here we show by means of magnetoencephalography with a phantom-limb patient, that movement of the phantom hand leads to a change in the response of the primary somatosensory cortex to tactile stimulatio...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2013.873060
更新日期:2015-02-01 00:00:00
abstract::Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by impairment in the melanin synthesis. We report two siblings with OCA who presented with symptoms of autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). Ocular side effects occured after methylphenidate ...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2020.1853174
更新日期:2020-12-01 00:00:00
abstract::Synaesthesia is often triggered by numbers, although it is conceivable that different aspects of numerical representation are responsible for different variants of synaesthesia. For individuals with "higher synaesthesia" it is assumed that number meaning (or numerosity) is responsible for the elicitation of synaesthet...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554790701300518
更新日期:2007-04-01 00:00:00
abstract::Individuals with posterior cortical atrophy (PCA) report a host of unusual and poorly explained visual disturbances. This preliminary report describes a single patient (CRO), and documents and investigates abnormally prolonged colour afterimages (concurrent and prolonged perception of colours complimentary to the colo...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2010.504729
更新日期:2011-01-01 00:00:00
abstract::Recent research revealed decreased access to semantic and associative networks in acute cocaine withdrawal. In autism, such behavioral outcomes are associated with decreased functional connectivity using functional magnetic resonance imaging. Therefore, we wished to determine whether connectivity is also decreased in ...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2011.627341
更新日期:2012-01-01 00:00:00
abstract::The clinical distinction between autism spectrum disorders (ASD), also called pervasive developmental disorders (PDD), and schizophrenia is often difficult to make. Here we describe a case of an adult patient presenting with a diagnosis of schizophrenia based on a history of functional deterioration and presumed perse...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2012.713492
更新日期:2013-01-01 00:00:00
abstract::We characterized the effect of virtual visual feedback (VVF) on supernumerary phantom limb pain (SPLP) in a patient with high cervical cord injury. The subject was a 22-year-old man diagnosed with complete spinal cord injury (level C2) approximately 5 years ago. We applied the ABA'B' single-case design and set phases ...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2015.1011664
更新日期:2015-01-01 00:00:00
abstract::The amygdala nuclei appear to be critically implicated in emotional memory. However, in most studies, encoding and consolidation processes cannot be analyzed separately. We thus studied the verbal emotional memory in a young woman with a ganglioglioma of the left amygdala and analyzed its impact (1) on each step of th...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2015.1037843
更新日期:2016-01-01 00:00:00
abstract::Prior research on developmental dyslexia using Stroop tasks with young participants has found increased interference in participants with dyslexia relative to controls. Here we extend these findings to adult participants, and introduce a novel test of Stroop incongruity, whereby the color names appeared on an object c...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2014.914544
更新日期:2015-01-01 00:00:00
abstract::By studying an enigmatic condition called, "calendar synesthesia", we explored the elusive boundary between perception, visual imagery, and the manner in which we construct an internal mental calendar by mapping time-sequences onto spatial maps. We use a series of demonstrations to establish that these calendars act m...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2019.1694040
更新日期:2020-02-01 00:00:00
abstract::The impact of epileptiform activity on the functional organization of various cortical regions is currently a widely discussed topic. Our patient, suffering from left-sided temporal lobe epilepsy with typical mesiotemporal sclerosis, had a remarkable history of a clear-cut handedness shift in early childhood. In this ...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554790490507669
更新日期:2004-08-01 00:00:00
abstract::We present HP, a patient who following the occurrence of herpes simplex encephalitis, lost the ability to understand a subset of words while others remained preserved. Of particular interest is the fact that the meaningless items retained their lexical status. HP's immediate serial recall of meaningless words was thus...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1076/neur.8.3.255.16196
更新日期:2002-01-01 00:00:00
abstract::With injury of the anterior two-thirds of the corpus callosum, each hemisphere's attentional bias to contralateral hemispace becomes manifest with each hand deviating ipsilaterally during line bisection tasks. Patients with infarctions in the right posterior cerebral artery distribution with occipital and splenial dam...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2018.1539501
更新日期:2018-08-01 00:00:00
abstract::A deficit of declarative memory is a common sequela after a hypoxic episode. While the role of gray matter changes (i.e., atrophy of hippocampal formation) as mainly responsible for memory loss has been emphasized, the role of the white matter damage has so far been neglected. The present study was aimed at evaluating...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2010.497155
更新日期:2011-02-01 00:00:00
abstract::A 68-year-old man had a cerebral infarction affecting the right parietal lobe, right insula, and the left prefrontal region. On admission, left hand tactile extinction was noted when the hands were placed both in anatomical and crossed positions, but was noted only in crossed positions from day 20 and later. Five mont...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2012.732082
更新日期:2014-01-01 00:00:00
abstract::Expanding our knowledge of the history of dementia may be beneficial for its holistic understanding. This article aims to review the trajectory of the concepts of dementia in the world and Japan. Historical backgrounds of major dementia diseases are also addressed. The first reference to "imbecility" appeared in Greec...
journal_title:Neurocase
pub_type: 历史文章,杂志文章,评审
doi:10.1080/13554794.2014.894532
更新日期:2015-01-01 00:00:00
abstract::A quantitative assessment of a distortion involving the left side of space, both in two-dimensional (drawing), and three-dimensional (modeling), visuo-constructional tasks is reported in a patient with a right temporoparieto-occipital lesion, and left hemianopia, without visuospatial neglect. In drawing and clay model...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554790802389154
更新日期:2008-01-01 00:00:00
abstract::Debates about the role of language in human thinking are increasingly prominent in the cognitive sciences. There are claims that certain forms of reasoning can only be performed through access to the resources of the language faculty. In particular, a component of social cognition involving the representation of the m...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1093/neucas/7.6.489
更新日期:2001-01-01 00:00:00
abstract::To further understand the nature of the visual-spatial representations required for successful acquisition of written language skills, we investigated the written language abilities of two individuals with Williams syndrome (WS) a developmental genetic disorder in which the presence of severe visual-spatial developmen...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2012.667127
更新日期:2013-08-01 00:00:00
abstract::A case report is presented detailing the successful use of awake intraoperative memory testing while using white matter stimulation in order to isolate the fornix tracks involved in memory function. The identification of the white matter tracks of the fornix that were involved in memory function was used to tailor the...
journal_title:Neurocase
pub_type: 杂志文章
doi:10.1080/13554794.2010.547509
更新日期:2012-02-01 00:00:00