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Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation
Late-onset painful sensory neuropathies are usually acquired conditions associated with common diseases. Adult presentations of known hereditary forms are often accompanied by other organ involvement. We recruited a large French-Canadian family with a dominantly inherited late-onset painful sensory neuropathy. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia. We selected four affected individuals for whole exome sequencing. Analysis of rare variants shared by all cases led to a list o...
Source: Brain - May 26, 2015 Category: Neurology Authors: Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Tags: Reports Source Type: research

Contactin 1 IgG4 associates to chronic inflammatory demyelinating polyneuropathy with sensory ataxia
A Spanish group recently reported that four patients with chronic inflammatory demyelinating polyneuropathy carrying IgG4 autoantibodies against contactin 1 showed aggressive symptom onset and poor response to intravenous immunoglobulin. We aimed to describe the clinical and serological features of Japanese chronic inflammatory demyelinating polyneuropathy patients displaying the anti-contactin 1 antibodies. Thirteen of 533 (2.4%) patients with chronic inflammatory demyelinating polyneuropathy had anti-contactin 1 IgG4 whereas neither patients from disease or normal control subjects did (P = 0.02). Three of 13 (23%) patien...
Source: Brain - May 26, 2015 Category: Neurology Authors: Miura, Y., Devaux, J. J., Fukami, Y., Manso, C., Belghazi, M., Wong, A. H. Y., Yuki, N., for the CNTN1-CIDP Study Group Tags: Reports Source Type: research

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
This study represents the first time that defects in PMPCA and mitochondrial processing peptidase have been described in association with a disease phenotype in humans. (Source: Brain)
Source: Brain - May 26, 2015 Category: Neurology Authors: Jobling, R. K., Assoum, M., Gakh, O., Blaser, S., Raiman, J. A., Mignot, C., Roze, E., Durr, A., Brice, A., Levy, N., Prasad, C., Paton, T., Paterson, A. D., Roslin, N. M., Marshall, C. R., Desvignes, J.-P., Roeckel-Trevisiol, N., Scherer, S. W., Rouleau, Tags: Original Articles Source Type: research

White matter disease and cognitive impairment in FMR1 premutation carriers
Conclusion: Microstructural white matter disease as determined by MRS and DTI correlated with executive dysfunction and slowed processing speed in these FMR1 premutation carriers. Neuroimaging abnormalities in the genu and MCP suggest that disruption of white matter within frontocerebellar networks has an important role in the cognitive impairment associated with the FMR1 premutation. (Source: Neurology)
Source: Neurology - May 25, 2015 Category: Neurology Authors: Filley, C. M., Brown, M. S., Onderko, K., Ray, M., Bennett, R. E., Berry-Kravis, E., Grigsby, J. Tags: MRS, DWI, All Neuropsychology/Behavior, All Cognitive Disorders/Dementia, All Genetics ARTICLE Source Type: research

A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
Conclusions: A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers segregates in at least three more breeds descended from British hunting terriers. Ataxic members of two of these breeds, the Smooth-Haired Fox Terrier and the Toy Fox Terrier, were homozygous for the mutation, strengthening the likelihood that this genetic defect is indeed the causative mutation for the disease known as “hereditary ataxia” in Fox Terriers and “spinocerebellar ataxia with myokymia, seizures or both” in the Russell group of te...
Source: Acta Veterinaria Scandinavica - May 23, 2015 Category: Veterinary Research Authors: Cecilia RohdinDouglas GilliamCaroline O¿LearyDennis O¿BrienJoan CoatesGary JohnsonKarin Jäderlund Source Type: research

A novel role of the checkpoint kinase ATR in leptin signaling
Publication date: Available online 14 May 2015 Source:Molecular and Cellular Endocrinology Author(s): Elke Ericson , Charlotte Wennberg-Huldt , Maria Strömstedt , Peter Brodin In a world with increasing incidences of obesity, it becomes critical to understand the detailed regulation of appetite. To identify novel regulators of the signaling mediated by one of the key hormones of energy homeostasis, leptin, we screened a set of compounds for their effect on the downstream Signal Transducer and Activator of Transcription 3 (STAT3) signaling. Interestingly, cells exposed to inhibitors of the Ataxia Telangiectasia and RAD3-...
Source: Molecular and Cellular Endocrinology - May 22, 2015 Category: Endocrinology Source Type: research

Spinal neurenteric cyst in a dog
We report an unusual intradural extramedullary cyst, called a neurenteric cyst, in a 2-year-old female crossbreed dog. This type of cyst is well-known in humans but has never been described in dogs. We propose that neurenteric cysts should be included in the differential diagnoses for tumor-like or cystic intradural lesions in the young dog. Prognosis for this type of cyst seems to be good, as total surgical removal led to a progressive clinical improvement with no recurrence at 18 months. (Source: Irish Veterinary Journal)
Source: Irish Veterinary Journal - May 22, 2015 Category: Veterinary Research Source Type: research

Subacute combined degeneration of the spinal cord in a patient abusing nitrous oxide and self-medicating with cyanocobalamin.
CONCLUSION: A patient who abused nitrous oxide chronically developed ataxia, paresthesia, and urinary retention while self-medicating with cyanocobalamin. A diagnosis of SCD was supported by MRI findings, symptoms, and the known relationship between nitrous oxide exposure and vitamin B12 deficiency. PMID: 25987690 [PubMed - in process] (Source: American Journal of Health-System Pharmacy : AJHP)
Source: American Journal of Health-System Pharmacy : AJHP - May 21, 2015 Category: Drugs & Pharmacology Authors: Pugliese RS, Slagle EJ, Oettinger GR, Neuburger KJ, Ambrose TM Tags: Am J Health Syst Pharm Source Type: research

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center
Conclusions: The frequency of defined etiologies (47 %) is high. This is probably because of the recruitment of the cases at the pediatric center, where other somatic anomalies can lead to the accurate determination of the etiology. (Source: European Journal of Pediatrics)
Source: European Journal of Pediatrics - May 21, 2015 Category: Pediatrics Source Type: research

News from the AAN Annual Meeting: Modified Amino Acid Improves Cerebellar Ataxia in Niemann-Pick Type C, A Case Series Shows
No abstract available (Source: Neurology Today)
Source: Neurology Today - May 21, 2015 Category: Neurology Tags: Features Source Type: research

News from the AAN Annual Meeting: Antisense Therapy Halts Spinocerebellar Ataxia Disease Progression in Two Mouse Models, Pointing Toward a Clinical Trial
No abstract available (Source: Neurology Today)
Source: Neurology Today - May 21, 2015 Category: Neurology Tags: Features Source Type: research

When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?
The autosomal dominant spinocerebellar ataxias (SCAs) are a highly heterogeneous group of genetic diseases characterized by progressive gait ataxia and variable degrees of extracerebellar symptoms and signs. SCAs comprise a large number of unusual genetic disorders, and may be considered a diagnostic challenge. Genetics has a significant role to play in the etiology, and up to now, approximately 40 SCAs subtypes have been described, and at least 32 different loci were identified [1]. As the knowledge of clinical and genetic features of SCAs is growing, the “What type of SCA should this patient tested for?” question bec...
Source: Journal of the Neurological Sciences - May 21, 2015 Category: Neurology Authors: José Luiz Pedroso, Agessandro Abrahao, Kinya Ishikawa, Salmo Raskin, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Pedro Braga-Neto, Marcus Vinicius Cristino de Albuquerque, Hidehiro Mizusawa, Orlando G.P. Barsottini Tags: Letter to the Editor Source Type: research

Analysis of pre-test interviews in a cohort of Brazilian patients with movement disorders
In this study, we describe the expectations and issues raised during pre-test interviews for genetic counselling for these diseases. Data from pre-test interviews with 97 patients and at-risk relatives for spinocerebellar ataxia (SCA) or Huntington disease was comprised of close-ended questions (demographics, personal and current disease history) and open-ended questions, where individuals were asked to describe their hopes and expectations on the genetic counselling evaluation and also their degree of knowledge about genetics and medical genetics. Amongst the main expectations identified in patients and at-risk relatives,...
Source: Journal of Community Genetics - May 20, 2015 Category: Genetics & Stem Cells Source Type: research

Fasciculations in human hereditary disease
Abstract Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are most frequently reported in familial amyotrophic lateral sclerosis (FALS), and spinal muscular atrophy (SMA). Among the non-hereditary diseases, fasciculations occur most frequently in peripheral nerve hyperexcitability syndromes (Isaac’s syndrome, voltage-gated potassium channelopathy, cramp fasciculation syndrome, Morvan syndrome). If the cause of fascicu...
Source: Acta Neurologica Belgica - May 20, 2015 Category: Neurology Source Type: research

Neuronavigation-guided transcranial magnetic stimulation of the dentate nucleus improves cerebellar ataxia: a sham-controlled, double-blind n=1 study
The authors report no conflicts of interest or financial disclosures. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 20, 2015 Category: Neurology Authors: Rubens Gisbert Cury, Manoel J. Teixeira, Ricardo Galhardoni, Victor Rossetto Barboza, Eduardo Alho, Catharina Maria Seixas, Guilherme Lepski, Daniel Ciampi de Andrade Tags: Letter to the Editor Source Type: research

FVC Deterioration, Airway Obstruction Determination, and Life Span in Ataxia Telangiectasia
Forced vital capacity (FVC) values decrease with progress of the disease in Ataxia telangiectasia (AT). (Source: Respiratory Medicine CME)
Source: Respiratory Medicine CME - May 20, 2015 Category: Respiratory Medicine Authors: Daphna Vilozni, Moran Lavie, Ifat Sarouk, Bat-El Bar-Aluma, Adi Dagan, Moshe Ashkenazi, Miryam Ofek, Ori Efrati Source Type: research

DNA damage response: Taking the DDR down a Notch
Nature Reviews Molecular Cell Biology 16, 328 (2015). doi:10.1038/nrm4005 Author: Eytan Zlotorynski The Notch signalling pathway regulates cell fate determination and can promote tumorigenesis. Vermezovic et al. found that the NOTCH1 receptor suppresses the activation of the DNA damage response (DDR) in nematodes and in human cells by inhibiting the kinase ataxia telangiectasia mutated (ATM). This (Source: Nature Reviews Molecular Cell Biology)
Source: Nature Reviews Molecular Cell Biology - May 20, 2015 Category: Cytology Authors: Eytan Zlotorynski Tags: Research Highlight Source Type: research

ATM facilitates mouse gammaherpesvirus reactivation from myeloid cells during chronic infection.
Abstract Gammaherpesviruses are cancer-associated pathogens that establish life-long infection in most adults. Insufficiency of Ataxia-Telangiectasia mutated (ATM) kinase leads to a poor control of chronic gammaherpesvirus infection via an unknown mechanism that likely involves a suboptimal antiviral response. In contrast to the phenotype in the intact host, ATM facilitates gammaherpesvirus reactivation and replication in vitro. We hypothesized that ATM mediates both pro- and antiviral activities to regulate chronic gammaherpesvirus infection in an immunocompetent host. To test the proposed proviral activity of ATM...
Source: Virology - May 20, 2015 Category: Virology Authors: Kulinski JM, Darrah EJ, Broniowska KA, Mboko WP, Mounce BC, Malherbe LP, Corbett JA, Gauld SB, Tarakanova VL Tags: Virology Source Type: research

Simpson Grade I-III Resection of Spinal Atypical (World Health Organization Grade II) Meningiomas is Associated With Symptom Resolution and Low Recurrence
CONCLUSION: Despite published cases suggesting an aggressive clinical course for spinal AMs, this series of spinal AMs reports that gross total resection without adjuvant radiation therapy resulted in symptom resolution and low recurrence. (Source: Neurosurgery)
Source: Neurosurgery - May 19, 2015 Category: Neurosurgery Tags: Research-Human-Clinical Studies Source Type: research

Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia
Publication date: July 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 777 Author(s): Roberta Meschini , Elisa Morucci , Andrea Berni , Wilner Lopez-Martinez , Fabrizio Palitti At present, a lot is known about biochemical aspects of double strand breaks (DBS) repair but how chromatin structure affects this process and the sensitivity of DNA to DSB induction is still an unresolved question. Ataxia telangiectasia (A-T) patients are characterised by very high sensitivity to DSB-inducing agents such as ionising radiation. This radiosensitivity is revealed with an enhancement of chrom...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 19, 2015 Category: Cytology Source Type: research

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells
Abnormally expanded DNA repeats are associated with several neurodegenerative diseases. In Friedreich's ataxia (FRDA), expanded GAA repeats in intron 1 of the frataxin gene (FXN) reduce FXN mRNA levels in averaged cell samples through a poorly understood mechanism. By visualizing FXN expression and nuclear localization in single cells, we show that GAA-expanded repeats decrease the number of FXN mRNA molecules, slow transcription, and increase FXN localization at the nuclear lamina (NL). Restoring histone acetylation reverses NL positioning. Expanded GAA-FXN loci in FRDA patient cells show increased NL localization with in...
Source: Human Molecular Genetics - May 19, 2015 Category: Genetics & Stem Cells Authors: Silva, A. M., Brown, J. M., Buckle, V. J., Wade-Martins, R., Lufino, M. M. P. Tags: ARTICLES Source Type: research

Longitudinal relationships among posturography and gait measures in multiple sclerosis
Conclusions: This longitudinal cohort study establishes a strong relationship between clinical gait measures and posturography. The data show that increases in static posturography and reductions in dynamic posturography are associated with a decline in walk velocity and Timed 25-Foot Walk performance over time. Furthermore, longitudinal balance measures predict future walking performance. Quantitative walking and balance measures are important additions to clinical testing to explore longitudinal change and understand fall risk in this progressive disease population. (Source: Neurology)
Source: Neurology - May 18, 2015 Category: Neurology Authors: Fritz, N. E., Newsome, S. D., Eloyan, A., Marasigan, R. E. R., Calabresi, P. A., Zackowski, K. M. Tags: Clinical neurology examination, Gait disorders/ataxia, Motor Control, Multiple sclerosis ARTICLE Source Type: research

Downregulation of MDC1 and 53BP1 by short hairpin RNA enhances radiosensitivity in laryngeal carcinoma cells.
Authors: Gou Q, Xie Y, Liu L, Xie K, Wu Y, Wang Q, Wang Z, Li P Abstract DNA double-strand breaks (DSBs) induced by ionizing radiation (IR) are among the most cytotoxic types of DNA damage. The DNA damage response (DDR) may be a reason for the cancer cell resistance to radiotherapy using IR. Identified as critical upstream mediators of the phosphorylation of ataxia telangiectasia‑mutated (ATM) pathway, mediator of DNA damage checkpoint 1 (MDC1) and p53-binding proteins 1 (53BP1) may affect the radiosensitivity of tumor cells. In the present study, we generated two HEP-2 cell lines with a stable knockdown of MDC...
Source: Oncology Reports - May 16, 2015 Category: Cancer & Oncology Tags: Oncol Rep Source Type: research

D-lactic acidosis: an underrecognized complication of short bowel syndrome.
Authors: Kowlgi NG, Chhabra L Abstract D-lactic acidosis or D-lactate encephalopathy is a rare condition that occurs primarily in individuals who have a history of short bowel syndrome. The unabsorbed carbohydrates act as a substrate for colonic bacteria to form D-lactic acid among other organic acids. The acidic pH generated as a result of D-lactate production further propagates production of D-lactic acid, hence giving rise to a vicious cycle. D-lactic acid accumulation in the blood can cause neurologic symptoms such as delirium, ataxia, and slurred speech. Diagnosis is made by a combination of clinical and labor...
Source: Gastroenterology Research and Practice - May 16, 2015 Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
Abstract Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underlying genetic basis is often considered, even in those without a family history. Here we apply whole exome sequencing to a cohort of 12 patients with late onset cerebellar ataxia. We show that 33 % of ‘idiopathic’ cases harbor compound heterozygous mutations in known ataxia genes, including genes not include...
Source: Journal of Neurology - May 16, 2015 Category: Neurology Source Type: research

Hyperoxia activates ATM independent from mitochondrial ROS and dysfunction
Publication date: Available online 2 May 2015 Source:Redox Biology Author(s): Emily A. Resseguie , Rhonda J. Staversky , Paul S. Brookes , Michael A. O’Reilly High levels of oxygen (hyperoxia) are often used to treat individuals with respiratory distress, yet prolonged hyperoxia causes mitochondrial dysfunction and excessive reactive oxygen species (ROS) that can damage molecules such as DNA. Ataxia telangiectasia mutated (ATM) kinase is activated by nuclear DNA double strand breaks and delays hyperoxia-induced cell death through downstream targets p53 and p21. Evidence for its role in regulating mitochondrial function...
Source: Redox Biology - May 15, 2015 Category: Biology Source Type: research

The Cardiomyopathy in Friedreich’s Ataxia – New Biomarker for Staging Cardiac Involvement
Patients with autosomal-recessively inherited Friedreich’s ataxia (FA) may develop a hypertrophic cardiomyopathy (CM), which potentially progresses towards a life-limiting problem. The typical features of this CM and the sequence of progression are widely unknown. (Source: International Journal of Cardiology)
Source: International Journal of Cardiology - May 15, 2015 Category: Cardiology Authors: Frank Weidemann, Dan Liu, Kai Hu, Cristiane Florescu, Markus Niemann, Sebastian Herrmann, Bastian Kramer, Stephan Klebe, Kathrin Doppler, Nurcan Üçeyler, Christian Oliver Ritter, Georg Ertl, Stefan Störk Source Type: research

Low-dose Methylphenidate Monotherapy for Features of Attention-Deficit/Hyperactivity Disorder Secondary to Hereditary Cerebellar Ataxia.
PMID: 25976218 [PubMed - as supplied by publisher] (Source: CNS Neuroscience and Therapeutics)
Source: CNS Neuroscience and Therapeutics - May 15, 2015 Category: Neuroscience Authors: Hu LY, Lin YL, Chang HS, Lu T, Lin WS Tags: CNS Neurosci Ther Source Type: research

Blink Reflex in Progressive Myoclonic Epilepsies
Progressive myoclonic epilepsies (PMEs) include a heterogeneous group of rare disorders that are generally transmitted via autosomal recessive inheritance and present with myoclonus as the core symptom accompanied by other types of seizures, progressive neurocognitive decline, ataxia, and systemic features [1]. Miscellaneous etiological factors may lead to PME, some of which include Unverricht-Lundborg disease (ULD), Lafora disease (LD), myoclonus epilepsy with ragged-red fibers (MERRF), sialidosis, dentato-rubro-pallido-luysian-atrophy (DRPLA) and neuronal ceroid lipofuscinosis (NCL). (Source: Seizure: European Journal of Epilepsy)
Source: Seizure: European Journal of Epilepsy - May 15, 2015 Category: Neurology Authors: Tülin Coşkun, Meral Kiziltan, Ayşegül Gündüz, Naz Yeni, Çiğdem Özkara Source Type: research

The cardiomyopathy in Friedreich's ataxia — New biomarker for staging cardiac involvement
Patients with autosomal-recessively inherited Friedreich's ataxia (FA) may develop a hypertrophic cardiomyopathy (CM), which potentially progresses towards a life-limiting problem. The typical features of this CM and the sequence of progression are widely unknown. (Source: International Journal of Cardiology)
Source: International Journal of Cardiology - May 15, 2015 Category: Cardiology Authors: Frank Weidemann, Dan Liu, Kai Hu, Cristiane Florescu, Markus Niemann, Sebastian Herrmann, Bastian Kramer, Stephan Klebe, Kathrin Doppler, Nurcan Üçeyler, Christian Oliver Ritter, Georg Ertl, Stefan Störk Source Type: research

Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature
Abstract Primary pineal melanoma is exceedingly rare, and sufficient treatment options have not been established. Here we describe a 57-year-old male patient who presented with short-term memory disturbance and ataxia. Magnetic resonance imaging of the brain showed a tumor mass in the pineal gland. Biopsy revealed a malignant melanocytic tumor. No primary malignant melanoma was known, and extensive imaging studies including PET-CT excluded other sites affected by a malignant melanoma. The demonstration of the BRAF V600E mutation in the pineal tumor made the patient eligible for intrathecal treatment with vemurafen...
Source: Acta Neurochirurgica - May 14, 2015 Category: Neurosurgery Source Type: research

Ageing, neuroinflammation and neurodegeneration.
Authors: Ward RJ, Dexter DT, Crichton RR Abstract During ageing, different iron complexes accumulate in specific brain regions which are associated with motor and cognitive dysfunction. In neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, changes in local iron homoeostasis result in altered cellular iron distribution and accumulation, ultimately inducing neurotoxicity. The use of iron chelators which are able to penetrate the blood brain barrier and reduce excessive iron accumulation in specific brain regions have been shown to reduce disease progression in both Parkinson's disease an...
Source: Frontiers in Bioscience - Scholar - May 14, 2015 Category: Biomedical Science Tags: Front Biosci (Schol Ed) Source Type: research

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools
Conclusions Individuals with larger GAA1 repeat sizes and earlier ages of disease onset were shown to deteriorate at a faster rate and were associated with greater FARS and ICARS scores and lower FIM and MBI scores, which are indicative of greater disease severity. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 14, 2015 Category: Neurosurgery Authors: Tai, G., Corben, L. A., Gurrin, L., Yiu, E. M., Churchyard, A., Fahey, M., Hoare, B., Downie, S., Delatycki, M. B. Tags: Genetics, Brain stem / cerebellum, Spinal cord Neurodegeneration Source Type: research

Preventing complications in celiac disease: Our experience with managing adult celiac disease
We describe our follow up for out clinic management, as evidence based data about such an approach are lacking in current literature. No food, beverages or medications containing any amount of gluten can be taken. (Source: Best Practice and Research. Clinical Gastroenterology)
Source: Best Practice and Research. Clinical Gastroenterology - May 14, 2015 Category: Gastroenterology Authors: C.J. Mulder, N.J. Wierdsma, M. Berkenpas, M.A.J.M. Jacobs, G. Bouma Source Type: research

Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene
This study reports the clinical and magnetic resonance imaging findings in two pediatric patients with mutations in the ND5 gene of mitochondrial DNA. The 8-month-old boy with m.13513 G > A mutation presented with infantile basal ganglia stroke syndrome secondary to mineralizing angiopathy. The 7-year-old girl with the m.13514A > G mutation had episodic regression, progressive ataxia, optic atrophy, and hyperactivity. Magnetic resonance imaging of the brain showed bilateral symmetrical signal intensity changes in the thalamus, tectal plate, and inferior olivary nucleus, which subsided on follow-up image. Both...
Source: Neuropediatrics - May 14, 2015 Category: Neurology Authors: Sonam, KothariBindu, P. S.Taly, Arun B.Govindaraju, ChikkannaGayathri, NarayanappaArvinda, Hanumanthapura R.Nagappa, MadhuSinha, SanjibKhan, Nahid AktharGovindaraj, PeriyasamyThangaraj, Kumarasamy Tags: Short Communications Source Type: research

MicroRNA-18a enhances the radiosensitivity of cervical cancer cells by promoting radiation-induced apoptosis.
Authors: Liu S, Pan X, Yang Q, Wen L, Jiang Y, Zhao Y, Li G Abstract Evidence has demonstrated that microRNAs (miRNAs) are important in the regulation of cellular radiosensitivity of various types of human cancer. The aim of this study was to examine the role of miR-18a in regulating the radiosensitivity of cervical cancer, in order to understand the underlying mechanism and to assess the potential of miR-18a as a biomarker for predicting radiosensitivity. The expression of miR-18a was investigated in 48 cervical cancer patients. The results revealed that miR-18a expression was significantly higher in radiosensiti...
Source: Oncology Reports - May 13, 2015 Category: Cancer & Oncology Tags: Oncol Rep Source Type: research

SHP-1 overexpression increases the radioresistance of NPC cells by enhancing DSB repair, increasing S phase arrest and decreasing cell apoptosis.
Authors: Pan X, Mou J, Liu S, Sun Z, Meng R, Zhou Z, Wu G, Peng G Abstract The present study aimed to investigate the influence of SHP-1 on the radioresistance of the nasopharyngeal carcinoma (NPC) cell line CNE-2 and the relevant underlying mechanisms. The human NPC cell line CNE-2 was transfected with a lentivirus that contained the SHP-1 gene or a nonsense sequence (referred to as LP-H1802Lv201 and LP-NegLv201 cells, respectively). Cells were irradiated with different ionizing radiation (IR) doses. Cell survival, DNA double-strand breaks (DSBs), apoptosis, cell cycle distribution, and the expression of related p...
Source: Oncology Reports - May 13, 2015 Category: Cancer & Oncology Tags: Oncol Rep Source Type: research

Giant Axonal Neuropathy
Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. Evaluation showed frizzy hair, characteristic facies, sensory motor neuropathy, and ataxia. Magnetic resonance imaging (MRI) showed bilateral symmetric white matter signal changes in the cerebellum and periventricular regions along with involvement of the posterior limb of the internal capsule. Sural nerve biopsy demonstrated giant axons with neurofilament accumulation. The clinicopathologic manifestations of giant axonal neuropath...
Source: Journal of Child Neurology - May 13, 2015 Category: Neurology Authors: Vijaykumar, K., Bindu, P. S., Taly, A. B., Mahadevan, A., Bharath, R. D., Gayathri, N., Nagappa, M., Sinha, S. Tags: Brief Communication Source Type: research

Ataxia induced by a thymic neuroblastoma in the elderly patient
We report a case of a 62-year-old male who presented with neurological symptoms of ataxia and opsoclonus and an anterior mediastinal mass. Ultimately, the patient underwent a resection of the mass and pathologic review identified a thymic neuroblastoma. This is the first case of thymic neuroblastoma associated with symptomatic central nervous system disease; it is presented with an up-to-date review of the previous cases in the field as well with a review of the literature of post adolescent neuroblastoma. (Source: World Journal of Surgical Oncology)
Source: World Journal of Surgical Oncology - May 12, 2015 Category: Cancer & Oncology Authors: Ory WieselShamik BhattacharyyaHenrikas VaitkeviciusSashank PrasadCiaran McNamee Source Type: research

Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington’s Disease
We described a 63-year-old Japanese female with genetically confirmed Huntington’s disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington’s disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Furthermore, the Purkinje cells were foun...
Source: The Cerebellum - May 12, 2015 Category: Neurology Source Type: research

Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington's Disease.
We described a 63-year-old Japanese female with genetically confirmed Huntington's disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington's disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Furthermore, the Purkinje cells were found to...
Source: Cerebellum - May 12, 2015 Category: Neuroscience Authors: Sakai K, Ishida C, Morinaga A, Takahashi K, Yamada M Tags: Cerebellum Source Type: research

Requirement of ATR for maintenance of intestinal stem cells in aging Drosophila.
This study was focused on the role of two major DDR-related factors, ataxia telangiectasia-mutated (ATM) and ATM- and RAD3-related (ATR) kinases, in the maintenance of intestinal stem cells (ISCs) in the adultDrosophila midgut. We explored the role of ATM and ATR, utilizing immunostaining with an anti-pS/TQ antibody as an indicator of ATM/ATR activation, γ-irradiation as a DNA damage inducer, and the UAS/GAL4 system for cell type-specific knockdown of ATM, ATR, or both during adulthood. The results showed that the pS/TQ signals got stronger with age and after oxidative stress. The pS/TQ signals were found to be more depen...
Source: Aging - May 12, 2015 Category: Biomedical Science Authors: Park JS, Na HJ, Jeon JH, Kim YS, Yoo MA Tags: Aging (Albany NY) Source Type: research

Wastebasket patient
Pale and silent, William slumped in his wheelchair. His features were coarse: heavy eyebrows, soft chin, fleshy nose. His head tipped to one side and nodded gently, his limbs inert. (Source: Neurology)
Source: Neurology - May 11, 2015 Category: Neurology Authors: Bradshaw, D. Y. Tags: Gait disorders/ataxia, Antiepileptic drugs, Error in medicine REFLECTIONS: NEUROLOGY AND THE HUMANITIES Source Type: research

Clinical variability in ataxia–telangiectasia
This report supports recent literature showing that ATM mutations are not exclusively associated with A-T but may also cause a more, even intra-familial variable phenotype in particular in association with dystonia. (Source: Journal of Neurology)
Source: Journal of Neurology - May 10, 2015 Category: Neurology Source Type: research

RNF8 plays an important role in the radioresistance of human nasopharyngeal cancer cells in vitro.
Authors: Wang M, Chen X, Chen H, Zhang X, Li J, Gong H, Shiyan C, Yang F Abstract Tumor residue or recurrence is common after radiation therapy for nasopharyngeal cancer (NPC) since the tumor cells can repair irradiation-induced DNA damage. The ubiquitination cascade mediates the assembly of repair and signaling proteins at sites of DNA double-strand breaks (DSBs). Ring finger protein 8 (RNF8) is an E3 ubiquitin ligase that triggers ubiquitination at the site of DSBs. The present study aimed to identify whether and how RNF8 small interfering RNA (siRNA) treatment enhances the radiosensitivity of irradiated human ...
Source: Oncology Reports - May 9, 2015 Category: Cancer & Oncology Tags: Oncol Rep Source Type: research

Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.
In this study, we demonstrate the utility of a simplified closed-tube strategy for rapid first-line screening of FXS based on melt peak temperature (T m) analysis of direct triplet-primed polymerase chain reaction amplicons (dTP-PCR MCA). In addition, we also evaluated the correlation between T m and CGG-repeat size based on capillary electrophoresis (CE) of dTP-PCR amplicons. The assays were initially tested on 29 FMR1 reference DNA samples, followed by a blinded validation on 107 previously characterised patient DNA samples. The dTP-PCR MCA produced distinct melt profiles of higher T m for samples carrying an expanded al...
Source: Molecular Medicine - May 8, 2015 Category: Molecular Biology Authors: Rajan-Babu IS, Law HY, Yoon CS, Lee CG, Chong SS Tags: Expert Rev Mol Med Source Type: research

Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins
Publication date: Available online 7 May 2015 Source:Cell Reports Author(s): Fabian Hosp , Hannes Vossfeldt , Matthias Heinig , Djordje Vasiljevic , Anup Arumughan , Emanuel Wyler , Markus Landthaler , Norbert Hubner , Erich E. , Lars Lannfelt , Martin Ingelsson , Maciej Lalowski , Aaron Voigt , Matthias Selbach Several proteins have been linked to neurodegenerative disorders (NDDs), but their molecular function is not completely understood. Here, we used quantitative interaction proteomics to identify binding partners of Amyloid beta precursor protein (APP) and Presenilin-1 (PSEN1) for Alzheimer’s disease (AD),...
Source: Cell Reports - May 8, 2015 Category: Cytology Source Type: research

Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India
Conclusions: There is a high prevalence of neurological lesions in auditory neuropathy spectrum disorder which has to be kept in mind while evaluating such patients. Follow-up and counselling regarding the appearance of neuropathies is therefore important in such patients. A hereditary etiology is indicated in a majority of cases of auditory neuropathy spectrum disorder. (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - May 8, 2015 Category: Neurology Authors: Anjali LepchaReni K ChandranMathew AlexanderAnn Mary AgustineK ThenmozhiAchamma Balraj Source Type: research

Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin 7 gene, leading to a pathogenic polyglutamine tract within the ataxin 7 protein. SCA7 patients suffer from progressive cerebellar ataxia and macular degeneration. SCA7 is considered to be rare, although founder effects have been reported in South Africa, Scandinavia and Mexico. The South African SCA7-associated haplotype has not been investigated in any other populations, and there have been limited reports of SCA7 patients from other African countries. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - May 8, 2015 Category: Neurology Authors: Danielle C. Smith, Masharip Atadzhanov, Mwila Mwaba, Jacquie Greenberg Source Type: research

POLR3A and POLR3B Mutations in Unclassified Hypomyelination
Conclusion Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination, and alternative diagnoses should be considered first.[...]Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals:Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 8, 2015 Category: Neurology Authors: Cayami, Ferdy K.La Piana, Robertavan Spaendonk, Rosalina M. L.Nickel, MiriamBley, AnnetteGuerrero, KetherTran, Luan T.van der Knaap, Marjo S.Bernard, GenevièveWolf, Nicole I. Tags: Original Article Source Type: research