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Petra Jungová, Andrea Čumová, Veronika Kramarová, Jana Lisyová, Pavol Ďurina, Ján Chandoga, Daniel Bӧhmer
Phelan-McDermid syndrome (PMD) is a rare genetic condition with only a few cases describing patients diagnosed as adults. We describe a long diagnostic odyssey of a 30-year-old woman who was diagnosed with Phelan-McDermid syndrom. Array comparative genomic hybridization analysis confirmed a 22q13.33 deletion, encompassing exon 9-23 of the SHANK3 gene and exon 1 of the ACR gene. We provide an uncommon feature of the disease, where psychotic alteration is repeatedly triggered by the same physical factor in our patient - mild fever episodes...
October 30, 2018: Neurocase
Tigran Kesayan, Hamlet Gasoyan, Kenneth M Heilman
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 damage can also exhibit spatial neglect. The goal of this report is to learn the role of the splenium of the corpus callosum in mediating visuospatial attention. A right-handed woman with Marchiafava-Bignami disease and damage to the splenium of her corpus callosum without evidence of a mesial frontal, parietal, or occipital injury was assessed for spatial neglect with line bisections...
October 28, 2018: Neurocase
Nadia K Magdalinou, Hannah L Golden, Jennifer M Nicholas, Pirada Witoonpanich, Catherine J Mummery, Huw R Morris, Atbin Djamshidian, Tom T Warner, Elizabeth K Warrington, Andrew J Lees, Jason D Warren
Verbal adynamia (impaired language generation, as during conversation) has not been assessed systematically in parkinsonian disorders. We addressed this in patients with Parkinson's dementia, progressive supranuclear palsy and corticobasal degeneration. All disease groups showed impaired verbal fluency and sentence generation versus healthy age-matched controls, after adjusting for general linguistic and executive factors. Dopaminergic stimulation in the Parkinson's group selectively improved verbal generation versus other cognitive functions...
October 6, 2018: Neurocase
Donna Murdaugh, Sarah Morris, Kathleen O'Toole
Neurocognitive outcomes in children with perinatal stroke are complicated by additional neurological/medical factors. The main objective of this study was to retrospectively examine long-term neurocognitive outcomes in five children with perinatal stroke with increasingly complex comorbidities; ages 5-7 at first evaluation. Results revealed that intelligence and academic skills were significantly decreased in cases with combined perinatal stroke and comorbidities. Early language development was particularly vulnerable to disruption over time in children with increasing medical complexity...
September 26, 2018: Neurocase
Maxime Bertoux, Elisa de Paula França Resende, Leonardo Cruz de Souza
Klüver-Bucy syndrome (KBS) leads to important behavioral symptoms and social maladaptation. Rarely described, no previous study has investigated its social and affective cognitive profile. We report the case of ASP, a patient who developed a complete KBS at 9 years that evolved into an incomplete KBS. Orbitofrontal and temporal damages were evidenced. While a classic neuropsychological assessment showed a preserved global functioning, an extensive evaluation of her social and affective cognition (reversal learning, decision-making, emotion recognition, theory of mind, creative thinking) showed remarkable deficits...
September 24, 2018: Neurocase
Pavel Dušek, David Školoudík, Jan Roth, Petr Dušek
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an autosomal recessive disorder caused by mutation in the C19orf12 gene. We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. Gradually, he developed dysarthria, spastic-dystonic gait, pedes cavi, and atrophy of leg muscles. Additionally, we report demographic parameters, clinical signs, and allelic frequencies of C19orf12 mutations of all published MPAN cases...
August 8, 2018: Neurocase
Joanna Hellmuth, Benedetta Milanini, Eliezer Masliah, Maria Carmela Tartaglia, Miranda B Dunlop, David J Moore, Shireen Javandel, Saskia DeVaughn, Victor Valcour
We discuss the challenges associated with diagnosing neurodegenerative disorders in older adults living with HIV, illustrated through a case report where neurologic co-diagnosis of Alzheimer's disease (AD) and HIV-associated Neurocognitive Disorder (HAND) are considered. The patient was followed and evaluated for over 4 years and underwent post-mortem neuropathologic evaluation. Further work is needed to identify diagnostic tests that can adequately distinguish HAND from early stage neurodegenerative disorders among older adults living with HIV and cognitive changes...
August 2018: Neurocase
Vasilios C Constantinides, Dimitrios S Kasselimis, George P Paraskevas, Maria Zacharopoulou, Elisabeth Andreadou, Maria-Eleftheria Evangelopoulos, Elisabeth Kapaki, Costas Kilidireas, Eleftherios Stamboulis, Constantin Potagas
Anti-NMDA receptor (NMDA-r) encephalitis is a relatively rare cause of autoimmune encephalitis with divergent clinical presentations. We report a case of an adult patient with anti-NMDA-r encephalitis presenting with isolated, abrupt-onset aphasia. Her condition remained unaltered over a period of 6 months. The patients' electroencephalogram findings were typical for NMDA-r encephalitis; however, her magnetic resonance imaging and cerebrospinal fluid analysis were normal. She responded well to immunotherapy, and aphasia eventually resolved...
August 2018: Neurocase
Francesca Romana Fusco, Marco Iosa, Augusto Fusco, Stefano Paolucci, Giovanni Morone
Corticobasal degeneration (CBD) is a neurodegenerative disorder characterized by a combination of cortical and basal ganglia signs. We reported two cases treated with a bilateral upper limb rehabilitation tool with videogame based feedback for 3 time per week for 8 weeks. Both patients showed an improvement of pinch and grasp forces and motor function. However, both of them reported an increased upper limb pain. Bilateral upper limb mechanical device with exergame feedback was effective also in the two patients suffering of CBD for limiting the effects of apraxia by performing intensive purposeful task training...
July 17, 2018: Neurocase
Na-Yeon Jung, Jae-Hyeok Lee, Young Min Lee, Jin-Hong Shin, Myung-Jun Shin, Myung Jun Lee, Kyoungjune Pak, Chungsu Hwang, Jae Woo Ahn, Suk Sung, Kyung-Un Choi, Gi Yeong Huh, Eun-Joo Kim
Corticobasal syndrome (CBS) is a typical phenotype of corticobasal degeneration (CBD). However, autopsy series have shown that many CBS cases emerge from various types of non-CBD pathology. We report a 73-year-old Korean man who was clinically diagnosed with CBS whose underlying pathology was Alzheimer's disease (AD) at autopsy (CBS-AD). This case suggests that early developing memory impairment and myoclonus, severe temporoparietal atrophy, and visual hallucinations may support a more specific prediction of CBS-AD...
July 10, 2018: Neurocase
Giulia Mazzon, Alina Menichelli, Antonella Fabretto, Tatiana Cattaruzza, Paolo Manganotti
Speech apraxia is a disorder of speech motor planning/programming leading to slow rate, articulatory distortion, and distorted sound substitutions. We describe the clinical profile evolution of a patient presenting with slowly progressive isolated speech apraxia that eventually led to the diagnosis of corticobasal syndrome (CBS), supporting the evidence that this rare speech disorder can be the first presentation of CBS. Moreover, we found a novel variant in MAPT gene, which is hypothesized to be disease-causing mutation...
July 3, 2018: Neurocase
Evie Kourtidou, Dimitrios Kasselimis, George Makrydakis, Lina Chatziantoniou, Andreas Kyrozis, Ioannis Evdokimidis, Constantin Potagas
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. The final diagnosis was that of a corticobasal degeneration, where the rare occurrence of a progressively emerging syndrome of self-management loss within peripersonal space is observed...
June 8, 2018: Neurocase
Krzysztof Gbyl, Martin Balslev Jørgensen
Both Capgras syndrome and folie à deux (insanity of two) are rare and fascinating psychopathological syndromes. Their etiology and the nosological position remain unclear. We present a case of substance-induced Capgras syndrome emerging as folie à deux (insanity of two) in monozygotic twins with strongly overlapping life histories. Then, we discuss the etiology and the nosological position of these two conditions as well as their significance for understanding the concept of psychosis.
June 2018: Neurocase
Ione O C Woollacott, Martina Bocchetta, Carole H Sudre, Basil H Ridha, Catherine Strand, Robert Courtney, Sebastien Ourselin, M Jorge Cardoso, Jason D Warren, Martin N Rossor, Tamas Revesz, Nick C Fox, Janice L Holton, Tammaryn Lashley, Jonathan D Rohrer
White matter hyperintensities (WMH) are often seen on MRI brain scans in frontotemporal dementia (FTD) due to progranulin (GRN) mutations, but their pathological correlates are unknown. We examined the histological changes underlying WMH in a patient with GRN mutation associated behavioral variant FTD. In vivo and cadaveric MRI showed progressive, asymmetric frontotemporal and parietal atrophy, and asymmetrical WMH predominantly affecting frontal mid-zones. We first performed segmentation and localization analyses of WMH present on cadaveric MRI FLAIR images, then selected five different brain regions directly matched to differing severities of WMH for histological analysis...
June 2018: Neurocase
Kimberly Hreha, Amit Chaudhari, Yekyung Kong, Prathusha Maduri, A M Barrett
Spatial neglect is a disorder of attention, perception, and processing of stimuli in contralesional space. The heterogeneous behaviors involve diverse neuroanatomical mechanisms. Anecdotal evidence suggests that neural circuitry of active spatial perception may differ from that used to encode spatial memory. These differences can escape detection by conventional assessments, thereby leading to missed diagnoses. We present a case, in an artist who demonstrates selective impairment in a contralesional space during active Where spatial perception...
June 2018: Neurocase
Katerina A Tetzloff, Joseph R Duffy, Edythe A Strand, Mary M Machulda, Sarah M Boland, Rene L Utianski, Hugo Botha, Matthew L Senjem, Christopher G Schwarz, Keith A Josephs, Jennifer L Whitwell
Primary progressive apraxia of speech (PPAOS) is a neurodegenerative disorder in which AOS is the sole presenting complaint. We report clinical and neuroimaging data spanning 10 years from disease onset-to-death in a 49 year-old male PPAOS patient, DY, who died with corticobasal degeneration. He presented with AOS with normal neuroimaging. Abnormalities in the caudate nucleus, supplementary motor area, cingulate, insula, and Broca's area were observed after five years, with involvement of motor cortex and development of agrammatism, Parkinsonism, and dysarthria three years later...
April 2018: Neurocase
Jed A Barash, W Andrew Kofke
Acute hippocampal injury represents a relatively rare cause of amnesia. Interestingly however, between 2012 and 2017, 18 patients were reported at hospitals in Massachusetts with sudden-onset amnesia in the setting of complete diffusion-weighted hyperintensity of both hippocampi on magnetic resonance imaging. Notably, 17 of the 18 patients tested positive for opioids or had a recorded history of opioid use. This observation suggests an association between opioids and acute hippocampal injury. With particular attention to the Massachusetts cluster and data on fentanyl and its congeners, the epidemiological and pathophysiological evidence that supports this hypothesis is presented, as are potential underlying mechanisms...
April 2018: Neurocase
Vilayanur Ramachandran, Chaipat Chunharas, Zeve Marcus, Timothy Furnish, Albert Lin
AL's leg was amputated resulting in phantom-limb pain (PLP). (1) When a volunteer placed her foot on or near the phantom - touching it evoked organized sensations in corresponding locations on AL's phantom. (2) Mirror-visual-feedback (MVF) relieved PLP, as did, "phantom massage". (3) Psilocybin-MVF pairing produced synergistic effects, complete elimination of PLP, and reduction in paroxysmal episodes. (4) Touching the volunteer's leg where AL previously had external fixators, evoked sensation of nails boring through the leg...
April 2018: Neurocase
Vilayanur Subramanian Ramachandran, Claudia Alyse Sellers
When someone touches, say, your upper arm, mirror neurons in your brain's area S2 fire. These neurons also fire when you merely watch another person being touched. However, you do not literally feel the touch from his arm on your own skin. Consistent with this view, we find when someone's arm is removed, he does start experiencing another's sensations [Ramachandran, V. S., & Brang, D. (2009)]. A congenital variant of this syndrome also exists, as in our subject TC. TC experienced referred touch, referred tickle in her axilla, and was able to tickle herself...
April 2018: Neurocase
Birsen Ince, Furkan Asan
Bilateral thalamic infarction involving the artery of Percheron (AOP) can cause diagnostic difficulties due to the varying clinical presentations. AOP infarcts presented with isolated memory impairment are not common and the factors affecting the persistence of memory disorders are still unknown. A 41-year-old male patient was hospitalized with acute unconsciousness. MRI disclosed bilateral paramedian thalamic infarction The patient had isolated memory deficit and his anterograde amnesia continued without any change in the past decade...
April 2018: Neurocase
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