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Ataxia

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Decreased Expression of Glutamate Transporter GLAST in Bergmann Glia Is Associated with the Loss of Purkinje Neurons in the Spinocerebellar Ataxia Type 1.
Abstract Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ATXN1. We have previously demonstrated that astrocytic activation occurs early in pathogenesis, correlates with disease progression, and can occur when mutant ATXN1 expression is limited to Purkinje neurons. We now show that expression of glutamate and aspartate transporter, GLAST, is decreased in cerebellar astrocytes in a mouse model of SCA1. This decrease occurs in non-cell autonomous manner late in disease and correlates well with the loss ...
Source: Cerebellum - September 27, 2014 Category: Neuroscience Authors: Cvetanovic M Tags: Cerebellum Source Type: research

Decreased Expression of Glutamate Transporter GLAST in Bergmann Glia Is Associated with the Loss of Purkinje Neurons in the Spinocerebellar Ataxia Type 1
Abstract Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ATXN1. We have previously demonstrated that astrocytic activation occurs early in pathogenesis, correlates with disease progression, and can occur when mutant ATXN1 expression is limited to Purkinje neurons. We now show that expression of glutamate and aspartate transporter, GLAST, is decreased in cerebellar astrocytes in a mouse model of SCA1. This decrease occurs in non-cell autonomous manner late in disease and correlates well with the loss...
Source: The Cerebellum - September 26, 2014 Category: Neurology Source Type: research

Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family
Conclusions: The association of SMA with myoclonic epilepsy may constitute a separate and genetically independent syndrome with unique clinical and electrophysiological findings. Collection of similar cases with genetic studies is needed to define the phenotype clearly and to identify new genes and molecular pathogenetic mechanisms involved in this condition. (Source: International Archives of Medicine)
Source: International Archives of Medicine - September 26, 2014 Category: Global & Universal Authors: Damith LiyanageLakmini PathberiyaInuka GooneratneKumarangie VithanageRanjanie Gamage Source Type: research

FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion
We present clinical and pathological features of a family in which a pathological ATXN2 expansion led to frontotemporal lobar degeneration with ALS (FTLD-ALS) in the index case, but typical SCA2 in a son, and compare the neuropathology with a case of typical SCA2. The index case shares the molecular signature of SCA2 with prominent polyglutamine and p62-positive intranuclear neuronal inclusions mainly in the pontine nuclei, while harbouring more pronounced neocortical and spinal TDP-43 pathology. We conclude that ATXN2 mutations can cause not only ALS, but also a neuropathological overlap syndrome of SCA2 and FTLD presenti...
Source: Acta Neuropathologica - September 25, 2014 Category: Neurology Source Type: research

Focused Cerebellar Laser Light Induced Hyperthermia Improves Symptoms and Pathology of Polyglutamine Disease SCA1 in a Mouse Model
Abstract Spinocerebellar ataxia 1 (SCA1) results from pathologic glutamine expansion in the ataxin-1 protein (ATXN1). This misfolded ATXN1 causes severe Purkinje cell (PC) loss and cerebellar ataxia in both humans and mice with the SCA1 disease. The molecular chaperone heat-shock proteins (HSPs) are known to modulate polyglutamine protein aggregation and are neuroprotective. Since HSPs are induced under stress, we explored the effects of focused laser light induced hyperthermia (HT) on HSP-mediated protection against ATXN1 toxicity. We first tested the effects of HT in a cell culture model and found that HT induc...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

The Moonwalker Mouse: New Insights into TRPC3 Function, Cerebellar Development, and Ataxia
Abstract The Moonwalker (Mwk) mouse is a recent model of dominantly inherited cerebellar ataxia. The motor phenotype of the Mwk mouse is due to a gain-of-function mutation in the gene encoding the cation-permeable transient receptor potential channel (TRPC3). This mutation converts a threonine into an alanine in the highly conserved cytoplasmic S4–S5 linker of the channel, affecting channel gating. TRPC3 is highly expressed in cerebellar Purkinje cells and type II unipolar brush cells that both degenerate in the Mwk mouse. Studies of the Mwk mouse have provided new insights into the role of TRPC3 in cerebellar ...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease
Abstract The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in Cuba. The aim of this study was to characterize extensively the prodromal phase of SCA2 by several approaches. Thirty-seven non-ataxic SCA2 mutation carriers and its age- and sex-matched controls underwent clinical assessments, including standardized neurological exam, structured interviews and clinical scales, and looking for somatic and autonomic features, as well as a neuropsychological battery, antisaccadic recordings, and MRI scans. M...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

Severe Hypomagnesaemia Causing Reversible Cerebellopathy
We present a 57-year-old man with a history of chronic alcohol abuse who developed a subacute cerebellar syndrome with hypertension after alcohol withdrawal. A severe hypomagnesaemia of 0.19 mmol/L (normal values 0.70–1.10) was found. MRI showed diffuse, T2 hyperintense lesions in and swelling of the cerebellum. Symptoms, hypertension and MRI abnormalities significantly improved rapidly after intravenous magnesium supplementation. Hypomagnesaemia can cause a subacute, cerebellar syndrome and hypertension. Symptoms, hypertension and MRI abnormalities can be reversed with rapid magnesium supplementation. MRI abnormalities...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
We describe a novel mutation arising de novo in a proband presenting in infancy with delayed walking and ataxia. She later developed chorea, then hypothyroidism and a large cystic pituitary mass. Her daughter presented in infancy with delayed walking and ataxia and went on to develop non-progressive chorea and a hormonally inactive cystic pituitary mass. Mutational analysis of the whole coding region of the TITF1 gene was undertaken and compared with a population study of 160 control subjects. This showed that both affected subjects have a heterozygous A > T substitution at nucleotide 727 of the TITF1 gene changing lysi...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

Physiologic Changes Associated with Cerebellar Dystonia
Abstract Dystonia is a neurologic disorder characterized by sustained involuntary muscle contractions. Lesions responsible for unilateral secondary dystonia are confined to the putamen, caudate, globus pallidus, and thalamus. Dysfunction of these structures is suspected to play a role in both primary and secondary dystonia. Recent evidence has suggested that the cerebellum may play a role in the pathophysiology of dystonia. The role of the cerebellum in ataxia, a disorder of motor incoordination is well established. How may the cerebellum contribute to two apparently very different movement disorders? This review...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

Low Bone Mineral Density in Friedreich Ataxia
Abstract Friedreich ataxia (FRDA) is the most common inherited neurodegenerative ataxia. Apart from predominant neurological features an involvement of the skeletal system in terms of scoliosis and foot deformities is frequent. Disease-related falls, mobility restrictions, and wheelchair-dependency in later disease stages might additionally compromise bone structure in FRDA. The aim of this pilot study was to systematically evaluate the bone status in a representative FRDA cohort. Twenty-eight FRDA patients became enrolled in this cross-sectional study. Neurological assessment, a questionnaire comprising the hist...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

Gluten Ataxia in Japan
Abstract Gluten ataxia, a type of cerebellar ataxia caused by exposure to gluten in sensitive patients, has been considered common in the USA and Europe, and rare in Asia. We measured anti-deamidated gliadin peptide (DGP) antibody levels in 49 patients with cerebellar ataxia, excluding those with multiple system atrophy, hereditary spinocerebellar ataxia, or cancer, as well as those who were receiving oral administration of phenytoin. Anti-DGP antibody was positive in eight (16.3 %) patients, five of these patients were positive only for IgA, one was positive for both IgG and IgA, and two were positive only for ...
Source: The Cerebellum - September 25, 2014 Category: Neurology Source Type: research

[Two Cases of Wernicke´s Encephalopathy That Developed during Total Parenteral Nutrition in Colon Cancer Patients Treated with 5-Fluorouracil-based Chemotherapy].
Abstract Wernicke's encephalopathy (WE) caused by thiamine deficiency is an acute neurological disorder. Clinically, the classic triad of WE consists of ophthalmoplegia, ataxia, and mental status changes. Thiamine deficiency is known to occur commonly in chronic alcoholic patients. Sometimes, it can occur in patients after gastrointestinal surgery and in those with malabsorption. In addition, patients undergoing renal dialysis, suffering from hyperemesis gravidarum, receiving total parenteral nutrition (TPN), and being treated with chemotherapeutic agents are also prone to develop thiamine deficiency. Herein, we re...
Source: Korean J Gastroenter... - September 25, 2014 Category: Gastroenterology Authors: Cho KP, Lee JS, Seong JS, Woo YM, Cho YJ, Jeong BJ, Sohn JH, Kim SJ Tags: Korean J Gastroenterol Source Type: research

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior
Small interstitial deletions affecting chromosome region 3p25.3 have been reported in only five patients so far, four of them with overlapping telomeric microdeletions 3p25.3 and variable features of 3p‐ syndrome, and one patient with a small proximal microdeletion and a distinct phenotype with intellectual disability (ID) and multiple congenital anomalies. Here we report on three novel patients with overlapping proximal microdeletions 3p25.3 of 1.1–1.5 Mb in size showing a consistent non‐3p‐ phenotype with ID, epilepsy/EEG abnormalities, poor speech, ataxia and stereotypic hand movements. The smallest region of ...
Source: American Journal of Medical Genetics Part A - September 24, 2014 Category: Genetics & Stem Cells Authors: Nicola Dikow, Bianca Maas, Stephanie Karch, Martin Granzow, Johannes W.G. Janssen, Anna Jauch, Katrin Hinderhofer, Christian Sutter, Susanne Schubert‐Bast, Britt Marie Anderlid, Bruno Dallapiccola, Nathalie Van der Aa, Ute Moog Tags: Research Article Source Type: research

424p * patient profile and therapeutic management in glioblastoma (gbm): a subgroup analysis of a large prospective observational study of the neuro-oncology investigation spanish group (geino)
Conclusions: At diagnosis, almost all patients received RT + TMZ after surgery or biopsy. 41% were treated at progression, half of them with a BV regimen. The exceptionally good survival could reflect a selection of p with good PS. This information can be useful to homogenize and to optimize Tx and for future clinical trials in GBM.Disclosure: All authors have declared no conflicts of interest. (Source: Annals of Oncology)
Source: Annals of Oncology - September 24, 2014 Category: Cancer & Oncology Authors: Sepulveda, J. M., Vieitez, J. M., Vazquez, S., Rodriguez Sanchez, A., Gallego, O., Rodriguez, L. M., Andrade, J., Gonzalez, F., Pujol, E., Gil Gil, M. Tags: CNS tumours Source Type: research

1014p * reduced expression of atm gene in head and neck cancer
Conclusions: Our data suggest that ATM mRNA expression is a prognostic factor in head and neck cancer and is associated with worse outcome. Additionally, it seems probable that smoking can increase the risk of head and neck cancer by lowering the ATM gene expression, but the data should be confirmed.Disclosure: All authors have declared no conflicts of interest. (Source: Annals of Oncology)
Source: Annals of Oncology - September 24, 2014 Category: Cancer & Oncology Authors: Stoj, A., Pawlega, J., Bahyrycz, J., Kurzynski, M., Sowula, K., Klimkowska, A., Sinczak-Kuta, A. Tags: head and neck cancer Source Type: research

Cerebral cortex involvement in Machado−Joseph disease
ConclusionsPatients with MJD/SCA3 have widespread cortical and subcortical atrophy. These structural findings correlate with clinical manifestations of the disease, which support the concept that cognitive/motor impairment and cerebral damage are related in disease. (Source: European Journal of Neurology)
Source: European Journal of Neurology - September 23, 2014 Category: Neurology Authors: T. J. R. Rezende, A. D'Abreu, R. P. Guimarães, T. M. Lopes, I. Lopes‐Cendes, F. Cendes, G. Castellano, M. C. França Tags: Original Article Source Type: research

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - September 23, 2014 Category: Genetics & Stem Cells Authors: Kenneth A. Myers, Jodi Warman Chardon, Lijia Huang, Kym M. Boycott Tags: Research Letter Source Type: research

Temporal disruption of upper-limb anticipatory postural adjustments in cerebellar ataxic patients.
Abstract Voluntary movements induce postural perturbations, which are counteracted by anticipatory postural adjustments (APAs) that preserve body equilibrium. Little is known about the neural structures generating APAs, but several studies suggested a role of sensory-motor areas, basal ganglia, supplementary motor area and thalamus. However, the role of the cerebellum still remains an open question. The aim of this present paper is to shed further light on the role of cerebellum in APAs organization. Thus, APAs that stabilize the arm when the index finger is briskly flexed were recorded in 13 ataxic subjects (seven...
Source: Experimental Brain Research - September 23, 2014 Category: Neuroscience Authors: Bruttini C, Esposti R, Bolzoni F, Vanotti A, Mariotti C, Cavallari P Tags: Exp Brain Res Source Type: research

Post-licensure surveillance of trivalent live attenuated influenza vaccine in adults, United States, Vaccine Adverse Event Reporting System (VAERS), July 2005-June 2013.
CONCLUSIONS: Review of VAERS reports are reassuring, the only unexpected safety concern for LAIV3 identified was a higher than expected number of GBS reports in the DoD population, which is being investigated. Reports of administration of expired LAIV3 represent administration errors and indicate the need for education, training and screening regarding the approved indications. PMID: 25258101 [PubMed - as supplied by publisher] (Source: Vaccine)
Source: Vaccine - September 22, 2014 Category: Allergy & Immunology Authors: Haber P, Moro P, McNeil MM, Lewis P, Woo EJ, Hughes H, Shimabukuro TT Tags: Vaccine Source Type: research

Dissecting the Links Between Cerebellum and Dystonia.
Abstract Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainl...
Source: Cerebellum - September 20, 2014 Category: Neuroscience Authors: Malone A, Manto M, Hass C Tags: Cerebellum Source Type: research

Dissecting the Links Between Cerebellum and Dystonia
Abstract Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data main...
Source: The Cerebellum - September 20, 2014 Category: Neurology Source Type: research

Superficial siderosis: bleeding from the bone marrow after laminectomy for spinal tumor removal.
Abstract Superficial siderosis of the CNS is a rare disease characterized by the deposition of hemosiderin in the subpial layers of the CNS as the result of chronic subarachnoid bleeding. The arrest of bleeding is important for preventing the progression of this disease; however, the exact source of bleeding remains unknown in most cases because of a lack of objective surgical data. The authors of this report have described a unique case of superficial siderosis following cervical laminectomy and autograft fusion for the removal of a spinal schwannoma; the bleeding source was verified by intraoperative and histopat...
Source: Journal of Neurosurgery.Spine - September 19, 2014 Category: Neurosurgery Authors: Yokosuka J, Takai K, Komori T, Taniguchi M Tags: J Neurosurg Spine Source Type: research

Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease
Conclusions: These results suggest miglustat as a possible therapeutic approach in this untreatable disease. The mechanisms by which miglustat ameliorates at least some clinical manifestations of TD needs to be further investigated. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 18, 2014 Category: Internal Medicine Authors: Annalisa SechiAndrea DardisStefania ZampieriClaudio RabacchiPaolo ZanoniSebastiano CalandraGiovanna De MaglioStefano PizzolittoValerio MaruottiAntonio Di MuzioFrances PlattBruno Bembi Source Type: research

miR-15b Confers Protection to the Lung following Radiation [Cell Biology]
In this study, we examined miR-15b expression patterns as well as its potential role in DNA damage and repair in the setting of IR exposure. We showed that miR-15b is up-regulated in a dose- and time-dependent manner in human bronchial epithelial cells following IR. miR-15b expression was highest after 2 h of IR and decreased gradually. Survival rates following IR were also higher in miR-15b/16-2-overexpressing cells. Cell cycle arrest in G2/M phase and an increased DNA repair response were observed in IR-exposed miR-15b/16-2 stable cells. We observed an up-regulation of components of the ataxia telangiectasia mutated (ATM...
Source: Journal of Biological Chemistry - September 18, 2014 Category: Chemistry Authors: Rahman, M., Lovat, F., Romano, G., Calore, F., Acunzo, M., Bell, E. H., Nana-Sinkam, P. Tags: Gene Regulation Source Type: research

Loss of Lgr4 Induces Ataxia and Impairs Long Term Depression [Neurobiology]
Cerebellar dysfunction causes ataxia characterized by loss of balance and coordination. Until now, the molecular and neuronal mechanisms of several types of inherited cerebellar ataxia have not been completely clarified. Here, we report that leucine-rich G protein-coupled receptor 4 (Lgr4/Gpr48) is highly expressed in Purkinje cells (PCs) in the cerebellum. Deficiency of Lgr4 leads to an ataxia-like phenotype in mice. Histologically, no obvious morphological changes were observed in the cerebellum of Lgr4 mutant mice. However, the number of PCs was slightly but significantly reduced in Lgr4−/− mice. In addition, in vit...
Source: Journal of Biological Chemistry - September 18, 2014 Category: Chemistry Authors: Guan, X., Duan, Y., Zeng, Q., Pan, H., Qian, Y., Li, D., Cao, X., Liu, M. Tags: Neurobiology Source Type: research

Visual Scanning Area is Abnormally Enlarged in Hereditary Pure Cerebellar Ataxia.
Abstract The aim of paper was to investigate abnormalities in visual scanning using an eye-tracking device with patients with spinocerebellar ataxia type 6 (SCA6) and SCA31, pure cerebellar types of spinocerebellar degeneration. Nineteen SCA patients (12 patients with SCA6 and 7 patients with SCA31) and 19 normal subjects in total participated in the study. While the subjects viewed images of varying complexity for later recall, we compared the visual scanning parameters between SCA patients and normal subjects. SCA patients had lower image recall scores. The scanned area in SCA patients was consistently larger tha...
Source: Cerebellum - September 18, 2014 Category: Neuroscience Authors: Matsuda S, Matsumoto H, Furubayashi T, Fukuda H, Hanajima R, Tsuji S, Ugawa Y, Terao Y Tags: Cerebellum Source Type: research

A Case of Cerebellar Ataxia Associated with HIV Infection
Cerebellar complications of HIV infection primarily manifested in ataxia, usually arise as the result of cerebellar lesions due to opportunistic infections, vasculitis or neoplastic processes. A 28 year old female known to have HIV infection for last four years, presented to our hospital with progressive unsteadiness in walking, slurring of speech and intention tremors for the last two months. There was no family history of similar complaints, and she was on Anti retroviral treatment for last one and a half years. The results of examination were notable for severe dysarthria, slow saccades, a conspicuous dysmetria and dysd...
Source: Journal of the International Association of Physicians in AIDS Care (JIAPAC) - September 17, 2014 Category: Infectious Diseases Authors: Anand, K. S., Wadhwa, A., Garg, J. Tags: Case Reports Source Type: research

Epigenetic therapy for Friedreich ataxia
ObjectiveTo investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I clinical trial in patients. MethodsWe used a human FRDA neuronal cell model, derived from patient induced pluripotent stem cells, to determine the efficacy of a 2‐aminobenzamide HDACi (109) as a modulator of FXN gene expression and chromatin histone modifications. FRDA patients were dosed in 4 cohorts, ranging from 30mg/day to 240mg/day of the formulated drug product of HDACi 109, RG2...
Source: Annals of Neurology - September 16, 2014 Category: Neurology Authors: Elisabetta Soragni, Wenyan Miao, Marco Iudicello, David Jacoby, Stefania De Mercanti, Marinella Clerico, Filomena Longo, Antonio Piga, Sherman Ku, Erica Campau, Jintang Du, Pablo Penalver, Myriam Rai, Joseph C. Madara, Kristopher Nazor, Melinda O'Connor, Tags: Research Article Source Type: research

Processing of double-R-loops in (CAG){middle dot}(CTG) and C9orf72 (GGGGCC){middle dot}(GGCCCC) repeats causes instability
R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and Friedreich's ataxia. Many of these repeats are bidirectionally transcribed, allowing for single- and double-R-loop configurations, where either or both DNA strands may be RNA-bound. R-loops can trigger repeat instability at (CTG)·(CAG) repeats, but the mechanism of this is unclear. We demonstrate R-loop-mediated instability through processing of R-loops by HeLa and human neuron-like cell extracts. Doubl...
Source: Nucleic Acids Research - September 16, 2014 Category: Research Authors: Reddy, K., Schmidt, M. H. M., Geist, J. M., Thakkar, N. P., Panigrahi, G. B., Wang, Y.-H., Pearson, C. E. Tags: Genome integrity, repair and replication Source Type: research

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia
Conclusion: There is great variability of phenotype and severity in A-T, including a wide spectrum of movement disorders. Karyotype and repeated AFP level assessments should be performed in adults with unexplained movement disorders as valuable clues towards the diagnosis. In case of a compatible phenotype, A-T should be considered even if age at onset is late and progression is slow. (Source: Neurology)
Source: Neurology - September 15, 2014 Category: Neurology Authors: Meneret, A., Ahmar-Beaugendre, Y., Rieunier, G., Mahlaoui, N., Gaymard, B., Apartis, E., Tranchant, C., Rivaud-Pechoux, S., Degos, B., Benyahia, B., Suarez, F., Maisonobe, T., Koenig, M., Durr, A., Stern, M.-H., Dubois d'Enghien, C., Fischer, A., Vidailhe Tags: All Clinical Neurology, All Movement Disorders, Dystonia, Gait disorders/ataxia, Myoclonus ARTICLE Source Type: research

Primary intracranial plasma cell granuloma responsive to rituximab
Plasma cell granuloma (PCG) is a sporadically occurring tumor-like mass that is histologically characterized by a non-neoplastic proliferation of inflammatory cells. The predominant cell types in PCG are polyclonal plasma cells and their precursors, including a substantial amount of mature B cells. (Source: Neurology)
Source: Neurology - September 15, 2014 Category: Neurology Authors: Schneider, C., Henning, T. D., Fink, G. R., Schroeter, M., Lehmann, H. C. Tags: MRI, Gait disorders/ataxia, Visual fields, Primary brain tumor CLINICAL/SCIENTIFIC NOTES Source Type: research

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system testing among 26 patients from New Zealand. After excluding three patients with diabetes mellitus, 83% had evidence of autonomic dysfunction; all patients had at least one autonomic symptom and 91% had more than two symptoms. We also ...
Source: Brain - September 13, 2014 Category: Neurology Authors: Wu, T. Y., Taylor, J. M., Kilfoyle, D. H., Smith, A. D., McGuinness, B. J., Simpson, M. P., Walker, E. B., Bergin, P. S., Cleland, J. C., Hutchinson, D. O., Anderson, N. E., Snow, B. J., Anderson, T. J., Paermentier, L. A. F., Cutfield, N. J., Chancellor, Tags: Reports Source Type: research

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1. This ataxia was firstly characterized in a large French family with slowly progressive cerebellar ataxia, accompanied by severe cognitive impairment and mental retardation in two young children. Following the recruitment of 12 additional young family members, linkage analysis enabled us to defin...
Source: Brain - September 13, 2014 Category: Neurology Authors: Delplanque, J., Devos, D., Huin, V., Genet, A., Sand, O., Moreau, C., Goizet, C., Charles, P., Anheim, M., Monin, M. L., Buee, L., Destee, A., Grolez, G., Delmaire, C., Dujardin, K., Dellacherie, D., Brice, A., Stevanin, G., Strubi-Vuillaume, I., Durr, A. Tags: Reports Source Type: research

The catalytic subunit of DNA-dependent protein kinase is required for cellular resistance to oxidative stress independent of DNA double strand break repair.
Abstract DNA-dependent protein kinase catalytic subunit (DNA-PKcs) and Ataxia telangiectasia mutated (ATM) are the two major kinases involved in DNA double-strand break (DSB) repair, and are required for cellular resistance to ionizing radiation. While ATM is the key upstream kinase for DSB signaling, DNA-PKcs is primarily involved in DSB repair through the non-homologous end-joining (NHEJ) mechanism. In addition to DSB repair, ATM has been shown to be involved in oxidative stress response and could be activated directly in vitro upon hydrogen peroxide (H2O2) treatment. However, the role of DNA-PKcs in cellular res...
Source: Free Radical Biology and Medicine - September 12, 2014 Category: Biology Authors: Li M, Lin YF, Palchik G, Matsunaga S, Wang D, Chen BP Tags: Free Radic Biol Med Source Type: research

Aggressive pituitary lesion with a remarkably high Ki-67
The uncommon aggressive pituitary tumors are named carcinomas when metastases are detected, either in the central nervous system and/or systemically. Some cases are associated with hormonal overproduction, but most are diagnosed because of local symptoms. These neoplasias are generally refractory to current treatments. A 51 year-old woman presented sudden onset of headache, left arm paresis and left facial hypoesthesia. Computed tomography scan and magnetic resonance imaging revealed a pituitary tumor invading the left sphenoidal and cavernous sinuses. Laboratory data excluded hormonal hypersecretion. The patient underwent...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - September 10, 2014 Category: Endocrinology Source Type: research

Nasality in Friedreich ataxia.
Abstract Abstract Perceptual speech research in Friedreich ataxia (FRDA) has identified altered nasality as a key component of the dysarthria profile, however the incidence and severity of abnormal nasality remains unknown. Utilizing objective and perceptual methods, data on the relationship between resonance, disease duration, severity, age of onset and genetic profiles were collated. Thirty-seven participants with FRDA and 24 healthy controls provided contemporaneous speech samples for perceptual analysis, and single word samples for acoustic analysis. A subset of participants (eight participants with FRDA and ei...
Source: Clinical Linguistics and Phonetics - September 10, 2014 Category: Speech Therapy Authors: Poole ML, Wee JS, Folker JE, Corben LA, Delatycki MB, Vogel AP Tags: Clin Linguist Phon Source Type: research

The multidisciplinary adult ataxia telangiectasia service
Conclusion In a rare degenerative neurological condition re-evaluation by a specialist MDT, whilst not affecting disease progression, leads to novel interventions to improve patient care. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Stavrou, M., Bull, T., Thaivalappil, F., Oscroft, N. Tags: Abstracts Source Type: research

Steroid responsive cerebral amyloid angiopathy
Cerebral amyloid angiopathy (CAA) can occasionally present with encephalopathy, unsteadiness and seizures, as a result of an inflammatory response to the deposition of beta–amyloid within the cerebral blood vessels and leptomeninges. In this case report, we describe a patient who has responded very favourably to immunosuppression. A previously fully independent 67 year old lady presented with a short history of confusion, worsening unsteadiness and self neglect. Neurologically, she was disorientated, dyspraxic with limb weakness and ataxia. MRI showed extensive bilateral white matter change and oedema throughout both...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Joe, D., Holmes, P. Tags: Abstracts Source Type: research

IDIOPATHIC AXONAL NEUROPATHY AND PRIMARY SJoGREN'S SYNDROME
Conclusions PSS is a common association in otherwise undiagnosed sensory axonal neuropathy. Salivary gland biopsy should be considered in all patients with an unidentified cause for sensory neuropathy and sicca symptoms. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Laverse, E., Samaraweera, A., Ng, W.-F., Miller, J. Tags: Abstracts Source Type: research

A case of recurrent miller fisher syndrome
Conclusion The risk of recurrence of GBS is reported between 1–6% (2) but recurrent MFS is extremely rare, with only 21 cases in the literature. In this case, the typical clinical presentation of MFS coupled with previous episodes may suggest an underlying predisposition, or even a pathogenic role for anti-gq1b antibody. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Thomas, J., Smith, P., Johnston, A. Tags: Abstracts Source Type: research

Ondine's curse
Ondine was cursed and had to remember to breath. Acquired central hypoventilation is rare but potentially treatable. A 60 year old woman was admitted to intensive care with increasing drowsiness and hypoventilation. She had initially noticed a dry mouth and slurred speech 7 weeks earlier, and subsequently developed postural hypotension followed by progressing incoordination and left sided deafness. On examination she was ventilated, and now fully aware, with upbeat nystagmus, a left 6th nerve palsy, with loss of lower limb reflexes and left sided ataxia. Extensive blood tests and MRI brain were normal. CSF was acellular wi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Sarkar, P., Fuller, G. Tags: Abstracts Source Type: research

The clinical and genetic spectrum of hemiplegic migraine
Conclusions CACNA1A is a major disease gene but HM shows significant clinical and, genetic heterogeneity. The paroxysmal disorders gene panel will be an important diagnostic tool in investigating HM, related disorders and the role of ion channels. Whole-exome sequencing is underway for unresolved cases. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Jaffer, F., Gardiner, A., Polke, J., Pittman, A., Prabhakar, P., Kurian, M., Sweeney, M., Hanna, M. G., Houlden, H. Tags: Abstracts Source Type: research

An occult disease... and one that changed my practise
Neuromyelitis optica (NMO) and NMO spectrum disorder are well characterized demyelinating neurological conditions with established but evolving diagnostic criteria. Antibody mediated inflammation underpins their aetiology, in particular relating to antibodies to the aquaporin-4 transmembrane channel. NMO forms an important differential diagnosis to multiple sclerosis, requires a different treatment strategy and is therefore important to discriminate. A middle-aged woman presented with an acute inflammatory encephalopathy with subsequent brainstem relapse. Aquaporin-4 antibodies were positive. Following routine examination,...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Shatti, D., Price, C., Luppe, S., Scolding, N. Tags: Abstracts Source Type: research

An unusual diagnosis of pinpoint tonic pupils
A 65 year old female presented following 2 weeks of coryzal symptoms with subacute diplopia and ataxia limiting her mobility. She noticed left hand paraesthesia, spreading over 2 days to both upper limbs and face. Examination revealed bilateral ptosis (no evidence of fatigability), miotic tonic pupils with complete ophthalmoplegia, total areflexia and patchy loss of vibration sense in both upper and lower limbs. Power was normal throughout. Proprioception and sensation to light touch were intact. In the peripheral hospital MRI brain and CSF examination were unremarkable. Tensilon test was negative. She was started on intra...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Mihalova, T., Jackson, S., Verghese, P. Tags: Abstracts Source Type: research

Status epilepticus secondary to unusual encephalopathy
An 18-year-old girl presented urgently with recurrent focal seizures. The seizures start with myoclonic jerking of the left leg, spreading to the left arm and head. She had complained of mild migraine like headaches for the last 4 weeks and had had formal visual hallucinations. She had no past medical history. She was apyrexial, with continuous myoclonic activity of the left leg, arm and head, left homonymous hemianopia and left sided ataxia. Routine blood tests were normal or negative, HIV test was negative, MRI brain showed right parieto-occipital gyral swelling, CSF examination was normal with normal CSF lactate. Geneti...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Ali, K., Flower, M., Lawthom, C. Tags: Abstracts Source Type: research

Symptoms of mitochondrial disease falling on deaf ears
We present a 37-year-old woman referred to our neurology clinic after an incidental finding of bilateral caudate, lentiform and pulvinar calcification during workup for cochlear implant surgery. She was born at 30 weeks' gestation with her identical twin sister and was found to have progressive sensorineural hearing loss from eight years of age. She had had no seizures, ataxia, weakness, psychosis or involuntary movements. Her mother had diabetes mellitus. On examination, she was areflexic but otherwise normal. Neurophysiology showed a mild sensory neuropathy. Mitochondrial gene testing showed heteroplasmy for m.3243A>G...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Chinthapalli, V. K., Warner, G. Tags: Abstracts Source Type: research

Two cases with an important reminder
We describe two patients presented neurologically, the delay in recognising HIV led to clinical deterioration and unnecessary investigations. A 45-year-old woman, presented with right hemiparesis, initial assessment suggested cerebrovascular event. 5 weeks later, she represented with coma and seizures. MRI brain showed large ring enhancing lesion with multiple peripheral lesions, this was thought to represent metastaic disease. Brain biopsy revealed toxoplasmosis, HIV test was positive. She was treated with antiretroviral and anti-toxoplasmosis therapy. She was left with significant neurological impairment. A 47-year-old m...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Ali, K., Lowman, A., Powell, R. Tags: Abstracts Source Type: research

From ataxia to bilateral facial palsy due to one virus
Discussion Neurological complications occur in up to 8% of patients with EBV infection. Although viral meningitis is the commonest presentation, it may result in encephalitis, cerebellitis, cranial nerve palsies, myelitis and neuropathies. Cerebrospinal fluid viral DNA testing is often negative and the diagnosis requires careful history-taking for preceding systemic symptoms. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Chinthapalli, V. K., Chinthapalli, S., Trend, P. Tags: Abstracts Source Type: research

Immunocompetent pml--an immunological scotoma?
We describe two cases of progressive multifocal leucoencephalopathy (PML) presenting as stroke in the immunocompetent. A 73-year-old man with a background of treated prostate carcinoma presented in October 2013 with a right hemiplegia; a diagnosis of lacunar infarction was made following CT. However, he progressed with increasing pyramidal weakness, ataxia, dysphasia and dysarthria. MRI in December revealed confluent T2 and FLAIR hyperintense white matter change with normal DWI. Extensive infective, vasculitic and malignancy screen were unremarkable; PCR in serum and CSF demonstrated JC virus DNA. Unfortunately the patient...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Cooper, R., Doshi, A., Harris, P., Sivagnanasundaram, J., Wells, G., Barritt, A., Aram, J., Giovannoni, G., Gnanapavan, S., Dobson, R. Tags: Abstracts Source Type: research