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https://www.readbyqxmd.com/read/27920713/late-onset-langerhans-cell-histiocytosis-with-cerebellar-ataxia-as-an-initial-symptom
#1
Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeon
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27915581/ftld-tdp-and-progressive-supranuclear-palsy-in-comorbidity-a-report-of-two-cases-with-different-clinical-presentations
#2
Kateřina Storey, Silvie Johanidesová, Radoslav Matěj, Jiří Keller, Zdeněk Rohan, Robert Rusina
Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices...
December 3, 2016: Neurocase
https://www.readbyqxmd.com/read/27878440/cognitive-dysfunction-in-patients-with-spinocerebellar-ataxia-type-6
#3
Itaru Tamura, Asako Takei, Shinsuke Hamada, Michio Nonaka, Yoshiko Kurosaki, Fumio Moriwaka
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 6 (SCA6). We examined 13 patients with genetically confirmed SCA6 and 13 healthy control subjects matched for age, years of education, global cognitive status, and intellectual ability. We administered verbal memory (word recall and word recognition), executive function (digit span, category and letter fluency, Frontal Assessment Battery, and Trail Making Test-A and B), and visuospatial construction (figure copying) tests...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#4
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
Objective: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN. Method: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging...
November 21, 2016: Neuropsychology
https://www.readbyqxmd.com/read/27852030/-a-case-of-pol-iii-related-leukodystrophy-with-homozygous-mutation-in-polr3a
#5
Tomoaki Shima, Takeshi Fujimoto, Teiichiro Miyazaki, Fumiaki Nonaka
We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and testosterone. Brain MRI showed diffuse hypomyelination, atrophy of the cerebellum and brainstem, and hypoplastic corpus callosum...
November 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27797808/clinicopathological-features-of-adult-onset-neuronal-intranuclear-inclusion-disease
#6
Jun Sone, Keiko Mori, Tomonori Inagaki, Ryu Katsumata, Shinnosuke Takagi, Satoshi Yokoi, Kunihiko Araki, Toshiyasu Kato, Tomohiko Nakamura, Haruki Koike, Hiroshi Takashima, Akihiro Hashiguchi, Yutaka Kohno, Takashi Kurashige, Masaru Kuriyama, Yoshihisa Takiyama, Mai Tsuchiya, Naoyuki Kitagawa, Michi Kawamoto, Hajime Yoshimura, Yutaka Suto, Hiroyuki Nakayasu, Naoko Uehara, Hiroshi Sugiyama, Makoto Takahashi, Norito Kokubun, Takuya Konno, Masahisa Katsuno, Fumiaki Tanaka, Yasushi Iwasaki, Mari Yoshida, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is a slowly progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. NIID has been considered to be a heterogeneous disease because of the highly variable clinical manifestations, and ante-mortem diagnosis has been difficult. However, since we reported the usefulness of skin biopsy for the diagnosis of NIID, the number of NIID diagnoses has increased, in particular adult-onset NIID...
December 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27772780/non-alcoholic-korsakoff-syndrome-in-psychiatric-patients-with-a-history-of-undiagnosed-wernicke-s-encephalopathy
#7
Georgios Nikolakaros, Tuula Ilonen, Timo Kurki, Janina Paju, Sokratis G Papageorgiou, Risto Vataja
Wernicke's encephalopathy is often undiagnosed, particularly in non-alcoholics. There are very few reports of non-alcoholic patients diagnosed with Korsakoff syndrome in the absence of a prior diagnosis of Wernicke's encephalopathy and no studies of diffusion tensor imaging in non-alcoholic Korsakoff syndrome. We report on three non-alcoholic psychiatric patients (all women) with long-term non-progressive memory impairment that developed after malnutrition accompanied by at least one of the three Wernicke's encephalopathy manifestations: ocular abnormalities, ataxia or unsteadiness, and an altered mental state or mild memory impairment...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27770207/gait-disorders-in-adults-and-the-elderly-a%C3%A2-clinical-guide
#8
Walter Pirker, Regina Katzenschlager
Human gait depends on a complex interplay of major parts of the nervous, musculoskeletal and cardiorespiratory systems. The individual gait pattern is influenced by age, personality, mood and sociocultural factors. The preferred walking speed in older adults is a sensitive marker of general health and survival. Safe walking requires intact cognition and executive control. Gait disorders lead to a loss of personal freedom, falls and injuries and result in a marked reduction in the quality of life. Acute onset of a gait disorder may indicate a cerebrovascular or other acute lesion in the nervous system but also systemic diseases or adverse effects of medication, in particular polypharmacy including sedatives...
October 21, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27746737/%C3%AE-9-thc-intoxication-by-cannabidiol-enriched-cannabis-extract-in-two-children-with-refractory-epilepsy-full-remission-after-switching-to-purified-cannabidiol
#9
José A S Crippa, Ana C S Crippa, Jaime E C Hallak, Rocio Martín-Santos, Antonio W Zuardi
Animal studies and preliminary clinical trials have shown that cannabidiol (CBD)-enriched extracts may have beneficial effects for children with treatment-resistant epilepsy. However, these compounds are not yet registered as medicines by regulatory agencies. We describe the cases of two children with treatment-resistant epilepsy (Case A with left frontal dysplasia and Case B with Dravet Syndrome) with initial symptom improvement after the introduction of CBD extracts followed by seizure worsening after a short time...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27620894/longitudinal-changes-of-cerebral-glutathione-gsh-levels-associated-with-the-clinical-course-of-disease-progression-in-patients-with-secondary-progressive-multiple-sclerosis
#10
In-Young Choi, Phil Lee, Abbey J Hughes, Douglas R Denney, Sharon G Lynch
BACKGROUND: Increased oxidative stress leads to loss of glutathione (GSH). We have reported lower cerebral GSH in patients with secondary progressive multiple sclerosis (SPMS), indicating the involvement of oxidative stress in multiple sclerosis (MS) pathophysiology. OBJECTIVE: This study expanded upon our earlier work by examining longitudinal changes in cerebral GSH in patients with SPMS in relation to their clinical status. METHODS: A total of 13 patients with SPMS (Expanded Disability Status Scale (EDSS) = 4...
September 12, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27523009/memory-loss-and-frontal-cognitive-dysfunction-in-a-patient-with-adult-onset-neuronal-intranuclear-inclusion-disease
#11
Kunihiko Araki, Jun Sone, Yusuke Fujioka, Michihito Masuda, Reiko Ohdake, Yasuhiro Tanaka, Tomohiko Nakamura, Hirohisa Watanabe, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is an uncommon progressive neurodegenerative disorder. Adult-onset NIID can result in prominent dementia. We herein describe the case of a 74-year-old man who presented with dementia, cerebellar ataxia, neuropathy, and autonomic dysfunction. Diffusion-weighted imaging showed hyperintensity of the corticomedullary junction. Fluid-attenuated inversion recovery images showed frontal-dominant white matter hyperintensity. NIID was diagnosed from the presence of intranuclear inclusions in a skin biopsy sample...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27516240/ataxia-severity-correlates-with-white-matter-degeneration-in-spinocerebellar-ataxia-type-7
#12
C R Hernandez-Castillo, I Vaca-Palomares, F Barrios, L Martinez, M-C Boll, J Fernandez-Ruiz
BACKGROUND AND PURPOSE: There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial Statistics. MATERIALS AND METHODS: Thirty-three patients with a molecular diagnosis of spinocerebellar ataxia type 7 and their age- and sex-matched healthy controls participated in this study...
August 11, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27401179/drug-associated-progressive-multifocal-leukoencephalopathy-a-clinical-radiological-and-cerebrospinal-fluid-analysis-of-326-cases
#13
Roderick P P W M Maas, Annemarie H G Muller-Hansma, Rianne A J Esselink, Jean-Luc Murk, Clemens Warnke, Joep Killestein, Mike P Wattjes
The implementation of a variety of immunosuppressive therapies has made drug-associated progressive multifocal leukoencephalopathy (PML) an increasingly prevalent clinical entity. The purpose of this study was to investigate its diagnostic characteristics and to determine whether differences herein exist between the multiple sclerosis (MS), neoplasm, post-transplantation, and autoimmune disease subgroups. Reports of possible, probable, and definite PML according to the current diagnostic criteria were obtained by a systematic search of PubMed and the Dutch pharmacovigilance database...
October 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27394379/symptom-resolution-in-infiltrating-who-grade-ii-iv-glioma-patients-undergoing-surgical-resection
#14
Joshua D Burks, Phillip A Bonney, Chad A Glenn, Andrew K Conner, Robert G Briggs, Peter A Ebeling, Lucas C Toho, Michael E Sughrue
Past studies of morbidity in patients with infiltrating gliomas have focused on the impact of surgery on quality of life. Surprisingly, little attention has been given to the rate at which the presenting symptoms improve after surgery, even though this is often the patient's first concern. This study is an initial effort to provide useful information about symptom resolution and factors predicting persistence of symptoms in glioma patients who undergo surgery. We conducted a retrospective analysis on patients who underwent surgery for World Health Organization (WHO) grade II-IV astrocytoma/oligodendroglioma/oligoastrocytoma at our institution...
September 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27356737/expanding-concept-of-clinical-conditions-and-symptoms-in-multiple-system-atrophy
#15
Hirohisa Watanabe, Yuichi Riku, Tomohiko Nakamura, Kazuhiro Hara, Mizuki Ito, Masaaki Hirayama, Mari Yoshida, Masahisa Katsuno, Gen Sobue
Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. MSA patients show various phenotypes during the course of their illness including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. MSA is classified into the parkinsonian (MSA-P) or cerebellar (MSA-C) variant depending on the clinical motor phenotype at presentation. MSA-P and MSA-C are predominant in Western countries and Japan, respectively. The mean age at onset is 55 to 60 years. Prognosis ranges from 6 to 10 years, but some cases survive for more than 15 years...
July 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27356733/an-autopsy-case-of-superficial-siderosis-of-the-central-nervous-system-accompanied-by-anterior-sacral-polycystic-meningocele-in-neurofibromatosis-type-1
#16
Arifumi Matsumoto, Hiroyoshi Suzuki, Muneshige Tobita, Kinya Hisanaga
A 74-year-old female patient, who was diagnosed with neurofibromatosis type 1 (NF1) at the age of 40, was admitted with complaints of flickering vision and gait disturbance for the last 2 years. On admission, neurological examination revealed mild bilateral hearing loss and ataxia in the limb and trunk. Laboratory tests revealed anti-hepatitis C virus (HCV) antibody positivity and elevated HCV RNA by real-time polymerase chain reaction. The cerebrospinal fluid examination revealed a slightly yellowish appearance with elevated total protein levels...
July 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27342741/report-of-progressive-myoclonus-ataxia-pma-in-two-chinese-pedigrees
#17
Lichao Sun, Jianguo Wu, Chunlan Liu, Weihong Lin
OBJECTIVE: To describe the clinical characteristics of patients diagnosed with progressive myoclonus ataxia (PMA) from two Chinese pedigrees. METHODS: An analysis of clinical data is presented and inferences drawn. RESULTS: The propositus from pedigree-I (9-year-old female) could not walk stably and had a history of frequent falls. The symptoms aggravated over time until she lost the ability to take care of herself. Her physical and mental development (including cognitive ability) was normal...
October 2016: Neurological Research
https://www.readbyqxmd.com/read/27196319/mri-evidence-of-cerebellar-and-extraocular-muscle-atrophy-differently-contributing-to-eye-movement-abnormalities-in-sca2-and-sca28-diseases
#18
Letterio Salvatore Politi, Stefania Bianchi Marzoli, Claudia Godi, Marta Panzeri, Paola Ciasca, Gianluca Brugnara, Anna Castaldo, Daniela Di Bella, Franco Taroni, Lorenzo Nanetti, Caterina Mariotti
PURPOSE: Spinocerebellar ataxias type 2 and 28 (SCA2, SCA28) are autosomal dominant disorders characterized by progressive cerebellar and oculomotor abnormalities. We aimed to investigate cerebellar, brainstem, and extraocular muscle involvement in the mitochondrial SCA28 disease compared with SCA2. METHODS: We obtained orbital and brain 1.5 T-magnetic resonance images (MRI) in eight SCA28 subjects, nine SCA2, and nine age-matched healthy subjects. Automated segmentation of cerebellum and frontal lobe was performed using Freesurfer software...
May 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27022623/neurons-in-vulnerable-regions-of-the-alzheimer-s-disease-brain-display-reduced-atm-signaling
#19
Xuting Shen, Jianmin Chen, Jiali Li, Julia Kofler, Karl Herrup
Ataxia telangiectasia (A-T) is a multisystemic disease caused by mutations in the ATM (A-T mutated) gene. It strikes before 5 years of age and leads to dysfunctions in many tissues, including the CNS, where it leads to neurodegeneration, primarily in cerebellum. Alzheimer's disease (AD), by contrast, is a largely sporadic neurodegenerative disorder that rarely strikes before the 7th decade of life with primary neuronal losses in hippocampus, frontal cortex, and certain subcortical nuclei. Despite these differences, we present data supporting the hypothesis that a failure of ATM signaling is involved in the neuronal death in individuals with AD...
January 2016: ENeuro
https://www.readbyqxmd.com/read/26960326/neurolymphomatosis-in-a-cat
#20
Masashi Sakurai, Kazushi Azuma, Arata Nagai, Toru Fujioka, Yuji Sunden, Akinori Shimada, Takehito Morita
A 9-year-old male mixed breed cat showed chronic progressive neurological symptoms, which are represented by ataxia and seizures. At necropsy, spinal roots and spinal ganglions at the level of sixth cervical nerve to second thoracic nerve were bilaterally swollen and replaced by white mass lesions. Right brachial plexus and cranial nerves (III, V and VII) were also swollen. A mass lesion was found in the right frontal lobe of the cerebrum. Histologically, neoplastic lymphocytes extensively involved the peripheral nerves, and they infiltrated into the cerebral and spinal parenchyma according to the peripheral nerve tract...
July 1, 2016: Journal of Veterinary Medical Science
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