Read by QxMD icon Read


Derek W Stitt, Ralitza Gavrilova, Robert Watson, Anhar Hassan
Alexander disease (AxD) is a leukodystrophy, described in infantile, juvenile and adult onset forms, due to mutations in the glial fibrillary acid protein (GFAP) gene. Adult-onset AxD (AOAD) has a range of clinical and radiographic phenotypes with the oldest reported onset in the seventh decade.We report a case of AOAD, with onset in the eighth decade, presenting with slow variant orthostatic tremor, which has not been previously described. Genetic analysis revealed a GFAP variant (c.1158C>A) that has not been previously reported...
February 12, 2019: Neurocase
Mary Godfrey, Manisha Udhnani, Nancy Raitano Lee
Mosaic trisomy 14 is associated with impaired intellectual functioning, although no study has examined the cognitive-behavioral profile associated with the syndrome. This study provides the first case description of the cognitive-behavioral phenotype associated with mosaic trisomy 14 by contrasting the performance an adolescent female (T14) with a group of females with Down syndrome (DS; n=9). T14 performed below age expectations on most direct assessments and demonstrated weaknesses relative to the DS group on aspects of language, adaptive functioning, and executive functioning...
February 4, 2019: Neurocase
Michitaka Funayama, Jin Mizushima, Taketo Takata, Akihiro Koreki, Masaru Mimura
Most patients with N-methyl-D-aspartate receptor (NMDAR) encephalitis initially present with psychiatric symptoms. Although a delayed diagnosis may lead to a poor outcome, psychiatric symptoms that could differentiate anti-NMDAR encephalitis from other psychoses have not been fully investigated. We evaluated two patients with anti-NMDAR encephalitis who were observed by psychiatrists from onset throughout the course of disease. Both patients exhibited disorientation, memory deficits, perceptual disturbances, hallucinations, and mood liability...
January 25, 2019: Neurocase
Katsuya Sakai, Yumi Ikeda, Kazu Amimoto
The purpose of this study was to investigate the effect of simultaneous intervention with the kinesthetic illusion induced by visual stimulation (KiNvis) and voluntary exercise on ankle dorsiflexion dysfunction in a patient with right-sided stroke hemiparesis. Within an ABAB single-case design, we conducted two phases each lasting five days. Phase A represented the baseline during which only voluntary ankle dorsiflexion (VAD) was performed. Phase B involved simultaneous performance of VAD and KiNvis. We measured the angle of ankle joint dorsiflexion (AJD), and the 10 m maximum walking speed (10MWS)...
January 18, 2019: Neurocase
Giulio Mastria, Valentina Mancini, Alessandro Viganò, Rita De Sanctis, Federica Letteri, Massimiliano Toscano, Vittorio Di Piero
Alice in Wonderland Syndrome (AIWS) is a rare perceptual disorder characterized by an erroneous perception of the body or the surrounding space. AIWS may be caused by different pathologies, ranging from infections to migraine. We present the case of a 54-year-old man, with a long-time history of migraine without aura, diagnosed with AIWS due to a glioblastoma located in the left temporal-occipital junction. To date, this is the first case of AIWS caused by glioblastoma. This case suggests that to exclude aura-mimic phenomena, a careful diagnostic workup should always be performed even in patients with a long-time history of migraine...
January 2, 2019: Neurocase
Dario Saracino, Lia Allegorico, Anna Maria Barbarulo, Bianca Pollo, Giorgio Giaccone, Alessandra D'Amico, Ludovico D'Incerti, Orso Bugiani, Giuseppe Di Iorio, Simone Sampaolo, Mariarosa Anna Beatrice Melone
Behçet's disease is a chronic inflammatory disorder manifesting as a vasculitis that affects arteries and veins of any size. Up to 44% of cases may also present with neurological symptoms, thus defining Neuro-Behçet's disease. We describe a case of Neuro-Behçet's disease characterized by progressive behavioral and cognitive deterioration prevailing over other neurological symptoms, without evident systemic involvement.
December 25, 2018: Neurocase
Nafisa Cassimjee, Riaan van Coller, Pieter Slabbert, Lizelle Fletcher, Janardan Vaidyanathan
Studies have demonstrated the effectiveness of deep brain stimulation (DBS) as a treatment modality for psychiatric conditions. We present a case reviewing the longitudinal neuropsychological performance outcomes following bed nucleus of the stria terminalis-area (BNST) DBS in a patient with treatment-resistant depression (TRD). The cognitive safety of DBS is well documented for various targets, however cognitive outcomes of BNST-area DBS have not been extensively reported for patients with TRD. Neuropsychological assessment was conducted pre- and post-DBS...
December 3, 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
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
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...
August 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...
August 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
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...
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
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...
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"