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https://www.readbyqxmd.com/read/29725839/executive-dysfunction-in-patients-with-spinocerebellar-ataxia-type-3
#1
Itaru Tamura, Asako Takei, Shinsuke Hamada, Hiroyuki Soma, Michio Nonaka, Sanae Homma, Fumio Moriwaka
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 3(SCA3). We examined 15 patients with genetically confirmed SCA3 and 15 healthy control subjects matched for age, years of education, and intellectual ability. We administered verbal memory (word recall and word recognition) and executive function tasks (word fluency test, forward and backward digit and visual span tests, Kana Pick-out Test, Trail Making Test, and conflicting instructions and a Go/NoGo task from the Frontal Assessment Battery)...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29703058/a-case-report-about-oligodendrogliomas-of-the-fourth-ventricle
#2
Xiujuan Gai, Shaomei Li, Yumei Wei, Shuhua Yu
RATIONALE: Oligodendrogliomas are usually located in the frontal, parietal and the temporal lobe, with the ones in the fourth ventricle quite rare. Hence we want to introduce a case about the rare disease. PATIENT CONCERNS: An eight-year old boy complained of progressive headache, dizziness and vomit for about 2 months. Then the slight ataxia was found by the physical examinations, with no sensory disturbances and other motor disturbances. DIAGNOSES: Abnormal signals on the fourth ventricle were found by the preoperative brain computed tomography (CT) scan and magnetic resonance imaging (MRI) scan...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#3
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29607952/a-unique-case-with-oral-dyskinesia-chorea-ataxia-and-mild-cognitive-impairment-with-caudate-atrophy-and-characteristic-brain-calcifications
#4
Nozomi Hishikawa, Yusuke Fukui, Kota Sato, Mami Takemoto, Toru Yamashita, Yasuyuki Ohta, Koji Abe
The authors report a man who developed oral dyskinesia at 46 years of age, followed by slowly progressive choreic movement and mild cognitive impairment over 20 years. He showed caudate atrophy and four types of intracranial calcification in the hippocampus (dot-like), cerebellar white matter (vague-mass), occipital cortices (laminar), and cerebral white matter (linear). Linear-calcification in the corona radiata seems to be deposition along small veins, which may be related to the white matter changes and to the decreased regional cerebral blood flow in the frontal and parietal lobes...
March 30, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29519464/the-history-of-the-neurophysiology-and-neurology-of-the-parietal-lobe
#5
Giovanni Berlucchi, Giuseppe Vallar
The development and change of knowledge on the function of the parietal lobe from the second half of the 19th century to the early 1970s are reviewed. Motor and somatosensory functions were initially localized in a broad frontoparietal region. At the beginning of the 20th century the motor cortex was restricted to the posterior frontal lobe. The separate attribution of somatosensory functions to the parietal lobe was initially based on anatomic considerations, but mostly on localized bodily sensations elicited by electric stimulation in awake patients...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29506772/intracavitary-amphotericin-b-in-the-treatment-of-intracranial-aspergillosis
#6
Cahit Kural, Mehmet Ilker Ozer, Mehmet Can Ezgu, Royal Mehtiyev, Soner Yasar, Ahmet Murat Kutlay, Mehmet Kadri Daneyemez, Onder Onguru, Ersin Erdogan, Yusuf Izci
Intracranial aspergillosis is a rare infectious disease of the central nervous system with high mortality rates. Our aim is to present 3 cases of intracranial aspergillosis who were surgically treated with intracavitary amphotericin B administration. First case was a 21-year-old male patient. Allogeneic stem cell transplantation treatment was performed because of aplastic anemia and vocal cord paralysis developed 10 days after treatment. Multiple aspergillosis abscesses were observed in the cranial magnetic resonance imaging (MRI)...
May 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29288631/gait-disorders
#7
REVIEW
Jessica M Baker
Walking is an extraordinarily complex task requiring integration of the entire nervous system, making gait susceptible to a variety of underlying neurologic abnormalities. Gait disorders are particularly prevalent in the elderly and increase fall risk. In this review we discuss an approach to the examination of gait and highlight key features of common gait disorders and their underlying causes. We review gaits due to lesions of motor systems (spasticity and neuromuscular weakness), the cerebellum and sensory systems (ataxia), parkinsonism, and frontal lobes and discuss the remarkably diverse phenomenology of functional (psychogenic) gait disorders...
December 27, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/29276596/applicability-of-long-term-electroencephalography-in-pre-mortem-diagnosis-of-creutzfeldt-jakob-disease-a-case-report
#8
Sanaz Attaripour Isfahani, Michelle Dougherty, Gediminas Peter Gliebus
Creutzfeldt-Jakob disease accounts for more than 90% of all sporadic prion disease cases. The molecular MM2 genotype has been divided into cortical and thalamic subtypes based on structures involved and is characterized clinically by progressive dementia without ataxia or typical electroencephalography changes. Proposed diagnostic criteria for MM2 cortical type sporadic Creutzfeldt-Jakob disease include progressive dementia, cortical hyper-intensity on diffusion-weighted magnetic resonance imaging, increased cerebrospinal fluid 14-3-3 protein level, and the exclusion of other types of dementia...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29249939/co-expression-patterns-between-atn1-and-atxn2-coincide-with-brain-regions-affected-in-huntington-s-disease
#9
Arlin Keo, N Ahmad Aziz, Oleh Dzyubachyk, Jeroen van der Grond, Willeke M C van Roon-Mom, Boudewijn P F Lelieveldt, Marcel J T Reinders, Ahmed Mahfouz
Cytosine-adenine-guanine (CAG) repeat expansions in the coding regions of nine polyglutamine (polyQ) genes ( HTT , ATXN1 , ATXN2 , ATXN3 , CACNA1A , ATXN7 , ATN1 , AR , and TBP ) are the cause of several neurodegenerative diseases including Huntington's disease (HD), six different spinocerebellar ataxias (SCAs), dentatorubral-pallidoluysian atrophy, and spinobulbar muscular atrophy. The expanded CAG repeat length in the causative gene is negatively related to the age-at-onset (AAO) of clinical symptoms. In addition to the expanded CAG repeat length in the causative gene, the normal CAG repeats in the other polyQ genes can affect the AAO, suggesting functional interactions between the polyQ genes...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29199507/asymmetric-oculomotor-apraxia-optic-ataxia-and-simultanagnosia-with-right-hemispatial-neglect-from-a-predominantly-left-sided-lesion-of-the-parieto-occipital-area
#10
Yasuhisa Sakurai, Masanori Fujimoto, Kensuke Hamada, Izumi Sugimoto
INTRODUCTION: Bálint's syndrome involves bilateral damage to the parieto-occipital area. The extent of the effect of unilateral damage on the Bálint's triad (oculomotor apraxia, optic ataxia, and simultanagnosia) remains unknown. METHODS: We examined a 63-year-old, right-handed woman who developed right hemianopia, oculomotor apraxia, optic ataxia, simultanagnosia, and hemispatial neglect (HSN) for the right after a cerebral infarction, with detailed neuropsychological tests, magnetic resonance imaging, and single photon emission computed tomography (SPECT)...
January 2018: Cognitive Neuropsychiatry
https://www.readbyqxmd.com/read/29187684/-a-case-of-hereditary-sensory-and-autonomic-neuropathy-type-1e-with-frontal-lobe-dysfunction-as-an-initial-symptom
#11
Masashi Watanabe, Yushi Matsumoto, Kensho Okamoto, Bungo Okuda, Ikuko Mizuta, Toshiki Mizuno
A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings...
December 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29123489/plasmapheresis-responsive-rapid-onset-dementia-with-predominantly-frontal-dysfunction-in-the-context-of-hashimoto-s-encephalopathy
#12
Dominique Endres, Magnus S Vry, Petra Dykierek, Anne N Riering, Eva Lüngen, Oliver Stich, Rick Dersch, Nils Venhoff, Daniel Erny, Irina Mader, Philipp T Meyer, Ludger Tebartz van Elst
Background: Hashimoto's encephalopathy (HE) is a rare immunological neuropsychiatric disorder characterized by increased antithyroid antibodies and mixed neurological and psychiatric symptoms. HE has been previously discussed as a differential diagnosis for rapid progressive dementia. However, most of these patients suffered from additional neurological symptoms, like ataxia or seizures. Case presentation: Here, we present the case of a 59-year-old female patient suffering rapid onset dementia with salient frontal executive dysfunction...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29099286/fdg-pet-in-creutzfeldt-jakob-disease-analysis-of-clinical-pet-correlation
#13
Dimitri Renard, Giovanni Castelnovo, Laurent Collombier, Eric Thouvenot, Vincent Boudousq
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...
November 2, 2017: Prion
https://www.readbyqxmd.com/read/29056700/how-behavioral-changes-can-indicate-serious-cerebral-pathology-a-case-report-of-concomitant-olfactory-neuroblastoma-and-distemper-virus-encephalitis-in-a-swiss-shepherd-dog
#14
Dario Candini, Ilaria Biasato, Paulo Ricardo Dell'Armelina Rocha, Elena Grego, Maria Teresa Capucchio, Cristina Vercelli
Behavioral alterations in dogs are not easy to understand and cure. The situation is more difficult when an encephalitis due to Canine Distemper Virus (CDV) and a concomitant olfactory neuroblastoma are present. This case report deals with the story of a 5-year-old Swiss shepherd dog with behavioral changes, seizures, epistaxis and ataxia. Following clinical and laboratory exams, a suspected diagnosis of CDV infection was hypothesized, and a therapy based on Ω-interferon was administered. Every supporting therapy failed and the worsening of the clinical conditions led to the euthanasia of the patient...
August 28, 2017: Veterinary Sciences
https://www.readbyqxmd.com/read/29037336/neuropsychiatry-towards-a-philosophy-of-praxis
#15
Jesús Ramirez-Bermudez, Rodrigo Perez-Esparza, Luis Carlos Aguilar-Venegas, Perminder Sachdev
Neuropsychiatry is a specialized clinical, academic and scientific discipline with its field located in the borderland territory between neurology and psychiatry. In this article, we approach the theoretical definition of neuropsychiatry, and in order to address the practical aspects of the discipline, we describe the profile of a neuropsychiatric liaison service in the setting of a large hospital for neurological diseases in a middle-income country. An audit of consecutive in-patients requiring neuropsychiatric assessment at the National Institute of Neurology and Neurosurgery of Mexico is reported, comprising a total of 1212 patients...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#16
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28728535/endovascular-occlusion-of-pial-arteriovenous-macrofistulae-using-pcanvas1-and-adenosine-induced-asystole-to-control-nbca-injection
#17
P Lylyk, J Chudyk, C Bleise, C Serna Candel, M Aguilar Pérez, H Henkes
Background In large-caliber pial macrofistulae (pMF), the combination of high blood flow velocity and large efferent artery diameter makes control over the endovascular vessel occlusion difficult and may result in the inadvertent venous passage of occlusive devices or embolic agents. Case descriptions Patient 1: A 27-year-old man presented with headache and ataxia. An infratentorial pMF supplied by both superior cerebellar arteries with venous ectasia was found. The first treatment attempt using balloons and coils failed since the position of either device could not be controlled because of a distal diameter of the feeding artery of 8 mm...
December 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28632524/callosal-motor-impersistence-a-novel-disconnection-syndrome
#18
Hee Jin Kim, Dongyeop Kim, Da-Heen Won, Juhee Chin, Kwang Ho Lee, Sang Won Seo, Kenneth M Heilman, Duk L Na
Motor impersistence, an inability to sustain a certain position or movement, is a motor-intentional disorder, caused more often by right than left hemisphere lesions. Since the right hemisphere is dominant for mediating motor persistence, callosal lesions that disconnect the left hemisphere from the right may induce impersistence of the right upper and lower limbs. After an undiagnosed left callosal infarction, a 65-year-old right-handed man suddenly developed a transient loss of volitional movement of his left leg...
June 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28552870/adult-onset-neuronal-intranuclear-inclusion-disease-presented-transient-global-amnesia-a-case-report
#19
Jun Takeshita, Hiromitsu Kobayashi, Yutaka Shimoe, Jun Sone, Gen Sobue, Masaru Kuriyama
A 65-year-old man had a transient amnesia for about 3 hours. Similar symptoms appeared three years ago. He did not manifest dementia, cerebellar ataxia and involuntary movements. Peripheral neuropathy was observed by the neurophysiological examinations. Diffusion weighted image showed high intensity signal in the area of the corticomedullary junction of the frontal to parietal lobes and immunohistochemical studies of biopsied skin revealed many intranuclear inclusion bodies. Adult-onset neuronal intranuclear inclusion disease was diagnosed...
June 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#20
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
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