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GAD Antibody-Associated Late-Onset Cerebellar Ataxia in Two Female Siblings
We report on 2 female siblings (aged 74 and 76 years) presenting with gradual progression of rotational vertigo, gait ataxia and vertical diplopia, continuously progressing for 6 months and 6 years, respectively. Autoimmune laboratory examinations showed remarkably increased serum and CSF GAD-ab levels. Their medical histories revealed late-onset type 1 diabetes mellitus (T1DM) and other concomitant autoimmune disorders (Grave's disease, Hashimoto's thyroiditis). Cerebral MRI and laboratory examinations were unremarkable. The diagnosis of GAD-ab-associated cerebellar ataxia with particular brainstem involvement was establi...
Source: Case Reports in Neurology - November 26, 2014 Category: Neurology Source Type: research

The Mechanism of Ipsilateral Ataxia in Lacunar Hemiparesis: SPECT Perfusion Imaging
Conclusions: Our findings suggest that ataxia in hemiparetic patients with capsular infarct can be caused by ipsilateral red nucleus dysfunction secondary to cortico-rubral pathway disruption at the internal capsule.Eur Neurol 2015;73:106-111 (Source: European Neurology)
Source: European Neurology - November 26, 2014 Category: Neurology Source Type: research

Ataxia and dizziness in a patient on hemodialysis
No abstract available (Source: Journal of the American Academy of Physician Assistants)
Source: Journal of the American Academy of Physician Assistants - November 25, 2014 Category: Primary Care Tags: Case of the Month Source Type: research

Costeff syndrome: clinical features and natural history
Abstract Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. Al...
Source: Journal of Neurology - November 25, 2014 Category: Neurology Source Type: research

Anti-Ri-associated paraneoplastic cerebellar degeneration. Report of a case and revision of the literature.
We report here the case of a patient with anti-Ri-antibody paraneoplastic syndrome, who presented four years after treatment for small-cell lung cancer (SCLC) with oscillopsia and gait disorder. On neurological examination vertical nystagmus, ataxic gait and postural tremor of all four limbs was detected. He died one year after the onset of the symptoms because of a acute exacerbation of his severe chronic obstructive pulmonary disease. No SCLC relapse or new cancer has been detected during the one-year follow-up period.To our knowledge, our patient is the first case of anti-Ri associated disorder with oscillopsia and vert...
Source: Archives Italiennes de Biologie - November 25, 2014 Category: Neuroscience Tags: Arch Ital Biol Source Type: research

SUMO-1 interacts with mutant ataxin-1 and colocalizes to its aggregates in Purkinje cells of SCA1 transgenic mice.
Authors: Kang S, Hong S Abstract Spinocerebellar ataxia type 1 (SCA1) is one of several progressive neurodegenerative diseases caused by the expanded polyglutamine tract in ataxin-1, the SCA1 gene product. In SCA1 patients and transgenic mice, the affected neuronal cells contain a large ubiquitin-positive aggregate which is derived from the mutant ataxin-1. Small ubiquitin-like modifier-1 (SUMO-1) is one of the most intriguing ubiquitin-like modifiers being conjugated to target proteins and modulating a number of cellular pathways. Recent findings that the aggregates from several neurodegenerative diseases are SUMO...
Source: Archives Italiennes de Biologie - November 25, 2014 Category: Neuroscience Tags: Arch Ital Biol Source Type: research

Molecular analysis of fragile X syndrome.
Authors: Basehore MJ, Friez MJ Abstract The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region, resulting in loss of FMR1 expression. Males with loss of FMR1 protein are expected to be affected by Fragile X syndrome, while females may or may not clinically manifest features of the condition. The protocols in this unit outline the complementary use of polymerase chain reaction ...
Source: Current Protocols in Human Genetics - November 25, 2014 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research

Molecular analysis of Fragile X syndrome.
Authors: Basehore MJ, Friez MJ Abstract The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region resulting in loss of FMR1 expression. Males with loss of FMR1 protein are expected to be affected by Fragile X syndrome while females may or may not clinically manifest features of the condition. The protocols in this unit outline the complementary use of polymerase chain reaction (P...
Source: Current Protocols in Human Genetics - November 25, 2014 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research

A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS.
Authors: Narcisa V, Aguilar D, Nguyen DV, Campos L, Brodovsky J, White S, Adams P, Tassone F, Hagerman PJ, Hagerman RJ Abstract The fragile X-associated tremor/ataxia syndrome (FXTAS) is a relatively common cause of balance problems leading to gait disturbances in older males (40%) with the premutation. FXTAS is less common in females. We utilized the CATSYS system, a quantitative measure of movement, in 23 women with FXTAS (mean age 62.7; SD 12.3), 90 women with the premutation without FXTAS (mean age 52.9; SD 9.4), and 37 controls (mean age 56.53; SD 7.8). CATSYS distinguished differences between carriers with an...
Source: Current Gerontology and Geriatrics Research - November 25, 2014 Category: Geriatrics Tags: Curr Gerontol Geriatr Res Source Type: research

Tyrosinase overexpression promotes ATM-dependent p53 phosphorylation by quercetin and sensitizes melanoma cells to dacarbazine.
In conclusion, these results suggest that Qct or Qct analogues may significantly improve DTIC response rates in tumors that express tyrosinase. PMID: 18791269 [PubMed - indexed for MEDLINE] (Source: Analytical Cellular Pathology)
Source: Analytical Cellular Pathology - November 25, 2014 Category: Cancer & Oncology Tags: Cell Oncol Source Type: research

Converting Skin Cells into Sensory Neurons that Detect Body Sensations
A team led by scientists from The Scripps Research Institute (TSRI) has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children. (Source: Disabled World)
Source: Disabled World - November 24, 2014 Category: Disability Tags: Medical Research Source Type: news

Pain and itch in a dish
(Scripps Research Institute) A team led by scientists from The Scripps Research Institute has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 24, 2014 Category: Global & Universal Source Type: news

Mystery Case: Heidenhain variant of Creutzfeldt-Jakob disease
A 75-year-old woman complained of a "scrambled brain" for 1 month. She endorsed poor depth perception and an inability to construct "mental maps" of her home and the grocery store. Examination revealed impaired delayed recall, ocular apraxia, optic ataxia, and simultanagnosia (Bálint syndrome). Diffusion-weighted MRI demonstrated cortical hyperintensities in the occipital lobes extending into the right parietal lobe, suggesting spongiform encephalopathy (figure). The 14-3-3 protein and elevated neuron-specific enolase were detected in the CSF. The patient was diagnosed with the Heidenhain variant of Creutzfeldt-Jako...
Source: Neurology - November 24, 2014 Category: Neurology Authors: Kalp, M., Gottschalk, C. H. Tags: RESIDENT AND FELLOW SECTION Source Type: research

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Conclusions: Our study identifies Twinkle mutations as a cause of Perrault syndrome accompanied by neurologic features and expands the phenotypic spectrum of recessive disease caused by mutations in Twinkle. The phenotypic heterogeneity of conditions caused by Twinkle mutations and the genetic heterogeneity of Perrault syndrome call for genomic definition of these disorders. (Source: Neurology)
Source: Neurology - November 24, 2014 Category: Neurology Authors: Morino, H., Pierce, S. B., Matsuda, Y., Walsh, T., Ohsawa, R., Newby, M., Hiraki-Kamon, K., Kuramochi, M., Lee, M. K., Klevit, R. E., Martin, A., Maruyama, H., King, M.-C., Kawakami, H. Tags: Ocular motility, Audition, Cerebellum, Mitochondrial disorders ARTICLE Source Type: research

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
Conclusions and RelevanceOur observations suggest that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maintenance. (Source: JAMA Neurology)
Source: JAMA Neurology - November 24, 2014 Category: Neurology Source Type: research

Elevated DNA damage response in pancreatic cancer
In this study, we showed obvious DNA damages existed in human pancreatic cancer, which activated DNA damage response and the DNA repair pathway including ataxia-telangiectasia mutated, DNA-PK, CHK1, and CHK2. The persistent DNA damage in pancreatic tissue may be the source for its tumorigenesis. (Source: Histochemistry and Cell Biology)
Source: Histochemistry and Cell Biology - November 22, 2014 Category: Biomedical Science Source Type: research

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
Abstract Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expanding rapidly. While the associated clinical phenotype is currently difficult to outline, with only a few patients identified, it appears that all organs and systems may be affected. The main clinical presentations can be divided into (1) Diseases affecting the central and peripheral nervous system. Complex lipid synthesis disorders produce prominent motor manifestations due to upper and/or lower mo...
Source: Journal of Inherited Metabolic Disease - November 20, 2014 Category: Internal Medicine Source Type: research

Early and severe autonomic failure: broadening the clinical phenotype of type-2 spinocerebellar ataxia. A case report
(Source: Journal of Neurology)
Source: Journal of Neurology - November 20, 2014 Category: Neurology Source Type: research

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy-chain binding protein) co-chaperone DNAJC3 leads to diabetes mellitus and widespread neurodegeneration. We investigated three siblings with juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. Exome sequencing identified a homozygous stop mutation in DNAJC3. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - November 20, 2014 Category: Genetics & Stem Cells Authors: Matthis Synofzik, Tobias B. Haack, Robert Kopajtich, Matteo Gorza, Doron Rapaport, Markus Greiner, Caroline Schönfeld, Clemens Freiberg, Stefan Schorr, Reinhard W. Holl, Michael A. Gonzalez, Andreas Fritsche, Petra Fallier-Becker, Richard Zimmermann, Tags: Report Source Type: research

Epigallocatechin-3-gallate and tetracycline differently affect ataxin-3 fibrillogenesis and reduce toxicity in spinocerebellar ataxia type 3 model
The polyglutamine (polyQ)-containing protein ataxin-3 (AT3) triggers the neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) when its polyQ tract is expanded beyond a critical length. This results in protein aggregation and generation of toxic oligomers and fibrils. Currently, no effective treatment is available for such and other polyQ diseases. Therefore, plenty of investigations are being carried on to assess the mechanism of action and the therapeutic potential of anti-amyloid agents. The polyphenol compound epigallocatechin-3-gallate (EGCG) and tetracycline have been shown to exert some effect in preventing...
Source: Human Molecular Genetics - November 20, 2014 Category: Genetics & Stem Cells Authors: Bonanomi, M., Natalello, A., Visentin, C., Pastori, V., Penco, A., Cornelli, G., Colombo, G., Malabarba, M. G., Doglia, S. M., Relini, A., Regonesi, M. E., Tortora, P. Tags: ARTICLES Source Type: research

Uncommon case of brain metastasis in a patient with a history of heavy smoking.
Authors: Scharl M, Bode B, Rushing E, Knuth A, Rordorf T Abstract Primary sarcomas of the aorta are extremely uncommon. Depending on histomorphology and immunohistochemical pattern, intimal sarcomas can show angiosarcomatous differentiation. Here, we describe the case of a 60-year-old woman with a primary intimal sarcoma of the aortic arch and signs of cerebral metastatic disease as the initial manifestation. After the patient experienced the onset of severe headaches, ataxia, and left-sided weakness, magnetic resonance imaging showed several brain lesions. Histologic assessment of a brain biopsy specimen revealed ...
Source: Current Oncology - November 19, 2014 Category: Cancer & Oncology Tags: Curr Oncol Source Type: research

Opsoclonus-myoclonus-ataxia syndrome associated with dengue virus infection
We thank the Editor for the opportunity to respond. The fact that opsoclonus-myoclonus-ataxia syndrome (OMAS) can be due to a wide variety of infections is well known, and in pediatric patients neuroblastoma is the “classic textbook” cause of this condition [1,2]. In our brief report [3], however, we took the approach of focusing on the neurological complications of dengue virus infection, and in particular OMAS. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - November 19, 2014 Category: Neurology Authors: Ai Huey Tan, Kyaw Linn, I-Ching Sam, Chong Tin Tan, Shen-Yang Lim Tags: Correspondence Source Type: research

Opsoclonus-myoclonus-ataxia syndrome associated with dengue
Sir, recent report on “Opsoclonus-myoclonus-ataxia syndrome associated with dengue” is very interesting [1]. In fact, opsoclonus-myoclonus-ataxia syndrome is reported in many viral syndrome including West Nile virus infection [2] and hepatitis [3]. The opsoclonus-myoclonus-ataxia syndrome is believed to be a result of neurological involvement of viral infection [4]. However, it can also be the early manifestation of some neurological neoplasm [4]. In the case of dengue, it is no doubt that the opsoclonus-myoclonus-ataxia syndrome can be a neurological complication [5]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - November 19, 2014 Category: Neurology Authors: Viroj Wiwanitkit Tags: Correspondence Source Type: research

miR-25 alleviates polyQ-mediated cytotoxicity by silencing
Spinocerebellar ataxia type 3/Machado-Joseph Disease (SCA3/MJD), the most common type of inherited spinocerebellar ataxia worldwide, is a polyglutamine (polyQ) disease; these neurodegenerative illnesses are caused by glutamine-encoding CAG nucleotide expansions within endogenous human genes. In healthy individuals, the wild-type ataxin-3 protein (encoded by the wild-type ATXN3 gene) has between 12 and 40 CAG repeats, and results in no cellular toxicity. However, in SCA3/MJD, the polyQ-expanded ATXN3 gene encodes between 51 and 86 CAG repeats (, resulting in an abnormal polyQ tract ...
Source: FEBS Letters - November 19, 2014 Category: Biochemistry Authors: Fengzhen Huang, Li Zhang, Zhe Long, Zhao Chen, Xuan Hou, Chunrong Wang, Huirong Peng, Junling Wang, Jiada Li, Ranhui Duan, Kun Xia, De-Maw Chuang, Beisha Tang, Hong Jiang Source Type: research

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy
Abstract Recent studies have implicated the WW domain-containing oxidoreductase encoding gene (WWOX) in a severe form of autosomal recessive neurological disorder. This condition showed an overlapping spectrum of clinical features including spinocerebellar ataxia associated with generalized seizures and delayed psychomotor development to growth retardation, spasticity, and microcephaly. We evaluated a child from a consanguineous Emirati family that presented at birth with growth retardation, microcephaly, epileptic seizures, and later developed spasticity and delayed psychomotor development. Screening for deletion...
Source: Journal of Molecular Neuroscience - November 18, 2014 Category: Neuroscience Source Type: research

Hypoglycemia - A rare complication of carbamazepine overdose
We report a patient with carbamazepine overdose who manifested recurrent hypoglycemia on the third and fourth day following ingestion that resolved with supportive therapy. (Source: Indian Journal of Pharmacology)
Source: Indian Journal of Pharmacology - November 18, 2014 Category: Drugs & Pharmacology Authors: Avanish JhaKundavaram Paul Prabhakar AbhilashRini BandhyopadhyayPeter John Victor Source Type: research

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects
We report on 16 infants and toddlers (ages 6 to 44 months; 6 female, and 10 male) with severe developmental delay. Birth weights were appropriate for gestational age in most cases, >97th% in one case and not available in four cases. The molecular subclass case distribution consisted of: UPD (n = 2), IC defect (n = 3), UPD or IC defect (n = 3), and UBE3A mutation (n = 8). Almost all (7 out of 8) UPD, IC and UPD/IC cases went on to exhibit >90th% age‐ and gender‐appropriate weight for height or BMI within the first 44 months. In contrast, no UBE3A mutation cases exhibited obesity or pre‐obesity me...
Source: American Journal of Medical Genetics Part A - November 17, 2014 Category: Genetics & Stem Cells Authors: Marie‐Luise Brennan, Margaret P. Adam, Laurie H. Seaver, Angela Myers, Susan Schelley, Neda Zadeh, Louanne Hudgins, Jonathan A. Bernstein Tags: Research Article Source Type: research

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia
Abstract Friedreich ataxia (FRDA) is an autosomal recessive disease with gait ataxia being the main source of morbidity. Mobility progressively declines, from initial symptom onset at approximately 10–15 years of age to being unable to ambulate 10–15 years later. Here, we sought to investigate the relationship between spatiotemporal gait parameters and clinical markers of disease severity. Thirteen people with FRDA walked along an 8.3-m GAITRite® mat six times each at their preferred fast and slow speeds. Relationships between spatiotemporal gait parameters and a range of clinical and disease characteristics...
Source: The Cerebellum - November 17, 2014 Category: Neurology Source Type: research

Upper Body Kinematics in Patients with Cerebellar Ataxia
In conclusion, our study revealed abnormal motor behaviour of the upper body in ataxic patients, mainly resulting in a flexed posture and larger oscillations of the head and trunk. The results of the correlation analyses suggest that the longer and more severe the disease, the larger the upper body oscillations and that large trunk oscillations may explain some aspects of gait variability. These results suggest the need of specific rehabilitation treatments or the use of elastic orthoses that may be particularly useful to reduce trunk oscillations and improve dynamic stability. (Source: The Cerebellum)
Source: The Cerebellum - November 17, 2014 Category: Neurology Source Type: research

Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia
(Source: The Cerebellum)
Source: The Cerebellum - November 17, 2014 Category: Neurology Source Type: research

The natural history of cerebellar degeneration of Niemann‐Pick C mice monitored in vitro
ConclusionWe provide evidence that cerebellar slice cultures are a powerful in vitro tool to study NPC‐associated Purkinje cell death in an organotypic setting. (Source: Neuropathology and Applied Neurobiology)
Source: Neuropathology and Applied Neurobiology - November 17, 2014 Category: Neurology Authors: Nils Marschalek, Frank Albert, Volker Meske, Thomas Georg Ohm Tags: Original article Source Type: research

Little folks, little myelin, and little teeth
The leukodystrophies encompass a large and heterogeneous group of genetically determined disorders that exclusively or predominantly affect the white matter of the brain. The different disorders generally cannot be recognized on clinical grounds, since they share common, nonspecific neurologic features and lack pathognomonic signs and symptoms. MRI is pivotal in the diagnostic workup of leukodystrophies, both to demonstrate presence of a leukodystrophy and to differentiate among the many different individual disorders. The leukodystrophies can be subdivided into 2 large groups based on the presence or absence of a permanen...
Source: Neurology - November 17, 2014 Category: Neurology Authors: Willemsen, M. A., D'Arrigo, S. Tags: MRI, Gait disorders/ataxia, Cerebellum, All Genetics EDITORIALS Source Type: research

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Conclusions: 4H is a well-recognizable clinical entity if all features are present. Mutations in POLR3A are associated with a more severe clinical course. MRI characteristics are helpful in addressing the diagnosis, especially if patients lack the cardinal non-neurologic features. (Source: Neurology)
Source: Neurology - November 17, 2014 Category: Neurology Authors: Wolf, N. I., Vanderver, A., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E., Catsman-Berrevoets, C., Kros, J. M., Pinto, P. S., Pohl, D., Tirupathi, S., Stromme, P., de Grauw, T., Fribourg, S., Demos, M., Pizzino, A., Naidu Tags: MRI, Gait disorders/ataxia, Cerebellum, All Genetics ARTICLE Source Type: research

Optic neuritis as isolated manifestation of leptomeningeal carcinomatosis: a case report and systematic review of ocular manifestations of neoplastic meningitis.
Conclusion. Meningeal carcinomatosis should be considered in patients with ocular symptoms even in the absence of other suggestive clinical symptoms. PMID: 24223306 [PubMed] (Source: Neurology Research International)
Source: Neurology Research International - November 16, 2014 Category: Neurology Tags: Neurol Res Int Source Type: research

Genetic variants in diseases of the extrapyramidal system.
Authors: Oczkowska A, Kozubski W, Lianeri M, Dorszewska J Abstract Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular genetic studies, leading to the detection of genetic mutations and loci, has contributed to the understanding of mechanisms of neurodegeneration and has helped clarify the pathogenesis of some neurodegenerative diseases. Molecular studie...
Source: Current Genomics - November 15, 2014 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Flocculus Purkinje cell signals in mouse Cacna1a calcium channel mutants of escalating severity: an investigation of the role of firing irregularity in ataxia
Mutation of the Cacna1a gene for the P/Q (CaV2.1) calcium channel invariably leads to cerebellar dysfunction. The dysfunction has been attributed to disrupted rhythmicity of cerebellar Purkinje cells, but the hypothesis remains unproven. If irregular firing rates cause cerebellar dysfunction, then the irregularity and behavioral deficits should covary in a series of mutant strains of escalating severity. We compared firing irregularity in floccular and anterior vermis Purkinje cells in the mildly affected rocker and moderately affected tottering Cacna1a mutants and normal C57BL/6 mice. We also measured the amplitude and ti...
Source: Journal of Neurophysiology - November 15, 2014 Category: Neurology Authors: Stahl, J. S., Thumser, Z. C. Tags: Cellular and Molecular Properties Of Neurons Source Type: research

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
Conclusions: The late-onset cblC defect is a rare disease and unfortunately, diagnosis is often delayed. Raising awareness for this disorder can significantly improve patients? outcome and perspective by timely initiation of targeted treatment. Newborn screening (NBS) for the cblC defect might be of benefit especially for late-onset patients since treatment seems efficient when initiated before irreversible organ damage. In general, inborn errors of metabolisms should be considered in unexplained medical cases at any age, especially in patients with multisystemic disease. More specifically, total homocysteine in plasma and...
Source: Orphanet Journal of Rare Diseases - November 15, 2014 Category: Internal Medicine Authors: Martina HuemerSabine Scholl-BürgiKarine HadayaIlse KernRonny BeerKlaus SeppiBrian FowlerMatthias BaumgartnerDaniela Karall Source Type: research

Immune mediated disorders in women with a fragile X expansion and FXTAS
We describe the time course of symptoms of immune mediated disorders and the subsequent development of FXTAS in four women with an FMR1 CGG expansion, including three with the premutation and one with a gray zone expansion. These patients developed an immune mediated disorder followed by neurological symptoms that become consistent with FXTAS. In all patients we observed a pattern involving an initial appearance of disease symptoms—often after a period of heightened stress (depression, anxiety, divorce, general surgery) followed by the onset of tremor and/or ataxia. Immune mediated diseases are associated with the manife...
Source: American Journal of Medical Genetics Part A - November 14, 2014 Category: Genetics & Stem Cells Authors: Isha Jalnapurkar, Nuva Rafika, Flora Tassone, Randi Hagerman Tags: Clinical Report Source Type: research

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
Authors: Evans-Galea MV, Lockhart PJ, Galea CA, Hannan AJ, Delatycki MB Abstract Friedreich ataxia (FRDA) is a devastating neurodegenerative disease caused by mutations in the frataxin gene (FXN). Frataxin is an essential protein which localizes to the mitochondria and is required for the synthesis of iron-sulfur clusters and heme. Most individuals with FRDA are homozygous for trinucleotide GAA.TTC repeat expansions in intron 1 of FXN. The instability of these GAA.TTC repeats, the formation of non-B DNA GAA.TTC structures, and accompanying epigenetic changes lead to reduced FXN transcript and frataxin protein. This...
Source: Discovery Medicine - November 14, 2014 Category: Research Tags: Discov Med Source Type: research

Characterizing cognitive function during relapse in multiple sclerosis
Conclusions: This is the first study to assess NP status changes during MS relapse using well established, reliable metrics. The presence of a clinically meaningful event is substantiated by decline in NP testing, observed or reported cognitive change, and in a subset of patients, gadolinium-enhancing MRI lesions. (Source: Multiple Sclerosis)
Source: Multiple Sclerosis - November 13, 2014 Category: Neurology Authors: Benedict, R. H., Morrow, S., Rodgers, J., Hojnacki, D., Bucello, M. A., Zivadinov, R., Weinstock-Guttman, B. Tags: Research Papers Source Type: research

TGF{beta} Induces Cancer Sensitivity to PARP Inhibitor
In this study, expression of a panel of DNA-repair genes was examined, identifying breast cancer 1, early onset (BRCA1) as a target downregulated by TGFβ through the miR181 family. Correlations between the expression levels of TGFβ1 and the miR181/BRCA1 axis were observed in primary breast tumor specimens. By downregulating BRCA1, ATM, and MSH2, TGFβ orchestrates DNA damage response in certain breast cancer cells to induce a "BRCAness" phenotype, including impaired DNA-repair efficiency and synthetic lethality to the inhibition of poly (ADP-ribose) polymerase (PARP). Xenograft tumors with active TGFβ si...
Source: Molecular Cancer Research - November 13, 2014 Category: Cancer & Oncology Authors: Liu, L., Zhou, W., Cheng, C.-T., Ren, X., Somlo, G., Fong, M. Y., Chin, A. R., Li, H., Yu, Y., Xu, Y., O'Connor, S. T. F., O'Connor, T. R., Ann, D. K., Stark, J. M., Wang, S. E. Tags: DNA Damage and Repair Source Type: research

Abstract B24: ATDC (Trim29) drives invasive bladder cancer formation
Bladder cancer is a common and deadly malignancy, but incomplete understanding of the molecular events driving tumor development and metastasis has limited development of effective treatments. Ataxia-Telangiectasia Group D Complementing (ATDC; also named TRIM29) is highly expressed in many cancer types, including bladder and pancreas. To determine the role of ATDC in tumorigenesis, we developed a novel transgenic mouse model in which ATDC was overexpressed in multiple tissue types. The dominant phenotype in these mice was the development of both papillary and invasive bladder carcinoma beginning at approximately 8 months o...
Source: Molecular Cancer Research - November 13, 2014 Category: Cancer & Oncology Authors: Palmbos, P., Wang, L., Yang, H., LeFlein, J., Wilkinson, J. E., Kumar-Sinha, C., Kunju, L. P., Daignault, S., Wu, X.-R., Lotan, Y., Liebert, M., Ljungman, M., Simeone, D. Tags: Mechanisms of Initiation and Progression: Poster Presentations - Proffered Abstracts Source Type: research

A man with skin lesions and ataxia: a case of disseminated varicella zoster
(Source: International Journal of Infectious Diseases)
Source: International Journal of Infectious Diseases - November 13, 2014 Category: Infectious Diseases Authors: Marcela A. Ferrada Source Type: research

Drug-Induced Cerebellar Ataxia: A Systematic Review
Conclusions It is important to be aware of the possibility that ataxia might be drug-induced, and for some drugs the relative frequency of this particular ADR is high. In most patients, symptoms occur within days or weeks after the introduction of a new drug or an increase in dose. In general, ataxia tends to disappear after discontinuation of the drug, but chronic ataxia has been described for some drugs. (Source: CNS Drugs)
Source: CNS Drugs - November 12, 2014 Category: Neurology Source Type: research

Neurologic morbidity and quality of life in survivors of childhood acute lymphoblastic leukemia: a prospective cross-sectional study
Conclusions Neurologic symptoms were present in 83 % long-term ALL survivors. Symptoms related morbidity and QOL impairment is low in majority of survivors. Female sex, ≥10 doses of intrathecal chemotherapy, and history of ALL relapse predispose to impaired QOL. Implications for Cancer Survivors This study will educate survivors and their care providers regarding cancer or treatment-related neurologic symptoms and morbidity. This study will help them understand factors contributing to impaired QOL when present. (Source: Journal of Cancer Survivorship)
Source: Journal of Cancer Survivorship - November 12, 2014 Category: Cancer & Oncology Source Type: research

Diagnosis and Prognosis in Idiopathic Normal Pressure Hydrocephalus
Idiopathic normal pressure hydrocephalus (iNPH) is a communicating hydrocephalus, of unknown pathophysiology, characterized by the classical triad of dementia, urinary incontinence, and ataxia. The most popular treatment option is shunt surgery, although it is not a cure. The diagnosis of the disorder is challenging as it may mimic a lot of other neurological conditions and has no distinct biomarker. It becomes even more challenging as majority of the cases are diagnosed by invasive cerebrospinal fluid (CSF) removal tests. However, a careful history taking, a keen and detailed physical examination, and pertinent imaging st...
Source: American Journal of Alzheimer's Disease and Other Dementias - November 12, 2014 Category: Geriatrics Authors: Ghosh, S., Lippa, C. Tags: Current Topics in Care Source Type: research

Spinal Decompression in Achondroplastic Patients Using High-Speed Drill Versus Ultrasonic Bone Curette: Technical Note and Outcomes in 30 Cases
Conclusions:Although spinal decompression provides symptomatic resolution in patients with achondroplasia, intraoperative complications, in general, and durotomies, in particular, are common. Here, we report a decreased incidence in intraoperative durotomy and overall perioperative complication rates in the BoneScalpel cohort, although this did not reach the level of statistical significance. Nonetheless, the data demonstrate that the BoneScalpel is a safe and efficacious alternative to the high-speed drill in these challenging patients. Level of evidence:Level II—retrospective study. (Source: Journal of Pediatric Orthopaedics)
Source: Journal of Pediatric Orthopaedics - November 11, 2014 Category: Orthopaedics Tags: Spine Source Type: research

Axonal neuropathy in female carriers of the fragile X premutation with fragile X‐associated tremor ataxia syndrome
This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X‐chromosome. © 2014 Wiley Periodicals, Inc. (Source: Muscle and Nerve)
Source: Muscle and Nerve - November 11, 2014 Category: Internal Medicine Authors: Suresh Ram, Inoka A. Devapriya, Grace Fenton, Lindsey McVay, Danh V. Nguyen, Flora Tassone, Ricardo A. Maselli, Randi J. Hagerman Tags: Research Article Source Type: research

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome
Publication date: December 2014 Source:Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Volume 1843, Issue 12 Author(s): Praseetha Kizhakkedath , Anke Loregger , Anne John , Boris Bleijlevens , Ali S. Al-Blooshi , Ahmed H. Al-Hosani , Ahmed M. Al-Nuaimi , Lihadh Al-Gazali , Noam Zelcer , Bassam R. Ali Dysequilibrium syndrome (DES, OMIM 224050) is a genetically heterogeneous condition that combines autosomal recessive non-progressive cerebellar ataxia with mental retardation. The subclass dysequilibrium syndrome type 1 (CAMRQ1) has been attributed to mutations in the VLDLR gene encoding the very low density ...
Source: Biochimica et Biophysica Acta (BBA) Molecular Cell Research - November 11, 2014 Category: Molecular Biology Source Type: research

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases.
Abstract Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation. Brain imaging including magnetic resonance (MR) and nuclear medicine techniques allows for characterization of structural and functional abnormalities underlying symptomatic ataxias. These methods thus constitute a potential source of radiological biomarkers, which could be used to identify these diseases and differentiate subgroups of them, and to assess their severity and their evolution. Such biomarkers mainly comprise qualitative an...
Source: Cerebellum - November 11, 2014 Category: Neuroscience Authors: Baldarçara L, Currie S, Hadjivassiliou M, Hoggard N, Jack A, Jackowski AP, Mascalchi M, Parazzini C, Reetz K, Righini A, Schulz JB, Vella A, Webb SJ, Habas C Tags: Cerebellum Source Type: research