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Cerebellar ataxia

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https://www.readbyqxmd.com/read/29325611/autosomal-recessive-cerebellar-ataxias
#1
Brent L Fogel
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325610/autosomal-dominant-cerebellar-ataxias
#2
Andrew Mundwiler, Vikram G Shakkottai
Spinocerebellar ataxias (SCAs) are a genetically diverse group of dominantly inherited disorders that share clinical features that result from dysfunction and degeneration of the cerebellum and its associated pathways. Although nearly 40 genes are currently recognized to result in SCA, shared mechanisms for disease pathogenesis exist among subsets of the SCAs. The most common SCAs result from a glutamine-encoding CAG repeat in the respective disease genes. This chapter discusses the varied genetic etiology of SCA and attempts to categorize these disorders based on shared mechanisms of disease...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29317520/atm-directs-dna-damage-responses-and-proteostasis-via-genetically-separable-pathways
#3
Ji-Hoon Lee, Michael R Mand, Chung-Hsuan Kao, Yi Zhou, Seung W Ryu, Alicia L Richards, Joshua J Coon, Tanya T Paull
The protein kinase ATM is a master regulator of the DNA damage response but also responds directly to oxidative stress. Loss of ATM causes ataxia telangiectasia, a neurodegenerative disorder with pleiotropic symptoms that include cerebellar dysfunction, cancer, diabetes, and premature aging. We genetically separated the activation of ATM by DNA damage from that by oxidative stress using separation-of-function mutations. We found that deficient activation of ATM by the Mre11-Rad50-Nbs1 complex and DNA double-strand breaks resulted in loss of cell viability, checkpoint activation, and DNA end resection in response to DNA damage...
January 9, 2018: Science Signaling
https://www.readbyqxmd.com/read/29316893/frequency-of-sca8-sca10-sca12-sca36-fxtas-and-c9orf72-repeat-expansions-in-sca-patients-negative-for-the-most-common-sca-subtypes
#4
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T Epplen, Larissa Arning
BACKGROUND: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72 gene. When no mutation has been identified in the aforementioned genes next-generation sequencing (NGS)-based diagnostics may also be applied. In order to define an optimal diagnostic strategy, more information about the frequency and phenotypic characteristics of rare repeat expansion disorders associated with ataxia should be at hand...
January 9, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29316033/peripheral-nerves-are-pathologically-small-in-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-a-controlled-ultrasound-study
#5
Luciana Pelosi, Eoin Mulroy, Ruth Leadbetter, Dean Kilfoyle, Andrew M Chancellor, Stuart Mossman, Laurie Wing, Teddy Y Wu, Richard H Roxburgh
BACKGROUND: Sensory neuronopathy is a cardinal feature of Cerebellar Ataxia Neuropathy Vestibular Areflexia Syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these CANVAS patients and seven healthy controls...
January 5, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#6
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29310343/cerebrospinal-fluid-real-time-quaking-induced-conversion-test-for-sporadic-creutzfeldt-jakob-disease-in-an-18-year-old-woman-a-case-report
#7
Yuan Yao, Xiaoping Dong, Hongzhi Guan, Qiang Lu
RATIONALE: Sporadic Creutzfeldt-Jakob disease (sCJD) mainly occurs in the elderly, with the peak age of onset ranging from 55 to 75 years. The symptoms of sCJD are not unique, and laboratory tests such as magnetic resonance imaging (MRI), electroencephalogram (EEG) and cerebrospinal fluid (CSF)14-3-3 protein have low sensitivity or specificity. Therefore, excluding treatable diseases and establishing a diagnosis could be difficult in young patients with suspected sCJD. Recently, real-time quaking-induced conversion (RT-QuIC) has been used in the diagnosis of sCJD, with more than 95% sensitivity and 100% specificity...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29306402/complex-hla-association-in-paraneoplastic-cerebellar-ataxia-with-anti-yo-antibodies
#8
Ryan P Hillary, Hanna M Ollila, Ling Lin, Virginie Desestret, Veronique Rogemond, Geraldine Picard, Mathilde Small, Isabelle Arnulf, Yves Dauvillers, Jerome Honnorat, Emmanuel Mignot
Anti-Yo paraneoplastic cerebellar degeneration (PCD) is a devastating autoimmune complication of gynecological cancers. We hypothesized that as for other autoimmune diseases, specific HLA haplotypes are associated. We conducted high resolution HLA typing of Class I/Class II in 40 cases versus ethnically matched controls. Three cases with anti-Yo antibodies and peripheral neuropathy were also included. We detected protective effects of DPA1*01:03~DPB1*04:01 (OR=0, p=0.0008), DRB1*04:01~DQA1*03:03(OR=0, p=0.0016) and DPA1*01:03~DPB1*04:01 (OR=0...
February 15, 2018: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29305691/the-capos-mutation-in-atp1a3-alters-na-k-atpase-function-and-results-in-auditory-neuropathy-which-has-implications-for-management
#9
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, Nanna D Rendtorff, Hanne Poulsen, Himanshu Khandelia, Wojciech Kopec, Troels J Brünnich Lyngbye, Christian Hamel, Cecile Delettre, Beatrice Bocquet, Michael Bille, Hanne H Owen, Toke Bek, Hanne Jensen, Karen Østergaard, Claes Möller, Linda Luxon, Lucinda Carr, Louise Wilson, Kaukab Rajput, Tony Sirimanna, Katherine Harrop-Griffiths, Shamima Rahman, Barbara Vona, Julia Doll, Thomas Haaf, Oliver Bartsch, Hendrik Rosewich, Tobias Moser, Maria Bitner-Glindzicz
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN)...
January 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29301160/-pharmacotherapy-of-vestibular-disorders-nystagmus-and-cerebellar-disorders
#10
K Feil, N Böttcher, O Kremmyda, C Muth, J Teufel, A Zwergal, T Brandt, M Strupp
There are currently different groups of drugs for the pharmacotherapy of vertigo, nystagmus and cerebellar disorders: antiemetics; anti-inflammatories, antimenieres, and antimigraineous medications and antidepressants, anticonvulsants, aminopyridines as well as acetyl-DL-leucine. In acute unilateral vestibulopathy, corticosteroids improve the recovery of peripheral vestibular function, but currently there is not sufficient evidence for a general recommendation. There is insufficient evidence to support the view that 16 mg t...
January 2018: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/29288088/telangiectasias-in-ataxia-telangiectasia-clinical-significance-role-of-atm-deficiency-and-potential-pathophysiological-mechanisms
#11
M H D Schoenaker, N J H Van Os, M Van der Flier, M Van Deuren, M M Seyger, A M R Taylor, C M R Weemaes, M A A P Willemsen
Ataxia Telangiectasia (AT) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. AT is an autosomal recessively inherited disorder, caused by mutations in the ATM gene that encodes the ATM protein. While the ataxia is subject of many publications, the telangiectasias are under emphasised. We here describe the observation that the absence or presence of ATM protein and the level of residual ATM kinase activity are related to the occurrence of telangiectasias and describe the clinical consequences of these vascular malformations...
December 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29287867/slc52a2-mutations-cause-scabd2-phenotype-a-second-report
#12
Mojgan Babanejad, Omid Ali Adeli, Nooshin Nikzat, Maryam Beheshtian, Hakimeh Azarafra, Farnaz Sadeghnia, Marzieh Mohseni, Hossein Najmabadi, Kimia Kahrizi
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs. METHODS: The phenotype of a consanguineous Iranian family was characterized using clinical testing and pedigree analysis. Whole-exome sequencing was used to identify the disease-causing gene in this family...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287866/childhood-hearing-loss-is-a-key-feature-of-capos-syndrome-a-case-report
#13
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29279964/hypertrophic-olivary-degeneration-in-children-after-posterior-fossa-surgery-an-underdiagnosed-condition
#14
Matheus Fernando Manzolli Ballestero, Dinark Conceição Viana, Thiago Lyrio Teixeira, Marcelo Volpon Santos, Ricardo Santos de Oliveira
BACKGROUND: Hypertrophic olivary degeneration (HOD) is a rare transsynaptic form of degeneration occurring after injury to the dentato-rubro-olivary pathway ("Guillain-Mollaret triangle"). The majority of studies have described HOD resulting from posterior fossa (PF) hemorrhage or infarction. HOD in patients undergoing PF surgery has not been well characterized. These lesions are rare and symptomatic children with HOD are even more uncommon. The purpose of this study was to evaluate HOD that develops after PF operations in children...
December 26, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29279305/friedreich-and-dominant-ataxias-quantitative-differences-in-cerebellar-dysfunction-measurements
#15
Audrey Tanguy Melac, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa, Sylvia Boesch, Thomas Klopstock, Jennifer Müller Vom Hagen, Thomas Klockgether, Katrin Bürk, Jörg B Schulz, Kathrin Reetz, Massimo Pandolfo, Alexandra Durr, Sophie Tezenas du Montcel
BACKGROUND: Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction. METHODS: We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained...
December 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29278894/asymmetric-ataxia-depression-memory-loss-epilepsy-and-axonal-neuropathy-associated-with-a-heterozygous-dna-polymerase-gamma-variant-of-uncertain-significance-c1370g-a-r457q
#16
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Mutations in the gene encoding DNA polymerase gamma (POLG) impair its ability to proofread mitochondrial DNA (mtDNA) during replication [1]. This results in a high frequency of randomly distributed mtDNA mutations and thus a wide range of phenotypes, including seizures, neuropathy, and cerebellar ataxia [1, 2]. We document a phenotype associated with the rare POLG variant c.1370G>A (p.R457Q). METHODS: Over 10 years, we performed electrodiagnostic and neuropsychologic on a patient who presented with a variety of neurologic symptoms...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29277257/early-onset-axonal-charcot-marie-tooth-disease-due-to-sacs-mutation
#17
Paulo Victor Sgobbi Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes. Two unrelated Brazilian men with early-onset axonal CMT-like presentations associated with SACS gene mutations are presented...
November 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29262477/-clinical-analysis-of-four-cases-of-anti-gq1b-syndrome
#18
X Y Yang, T L Han, W H Zhang, S Zhang, F Fang
Objective: To investigate the clinical manifestations, laboratory findings, treatment and outcome of anti-GQ1b antibody syndrome. Method: The clinical manifestations, laboratory examination, diagnosis, treatment and prognosis of (4 patients 4 male patients, from 4 to 12 years) with anti-GQ1b syndrome in Beijing Children's Hospital affiliated to Capital Medical University from 2015 to 2016 were retrospectively analyzed. Result: All 4 children presented with ataxia. Case 1 showed impaired speech, ptosis and weakness of arms; case 2 and 3 had external ophthalmoplegia, weakness of limbs; case 4 presented hypersomnia, irritability and hallucinations...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29261783/somatic-instability-of-the-expanded-gaa-repeats-in-friedreich-s-ataxia
#19
Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala
Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded GAA tracts are genetically unstable, exhibiting both expansions and contractions. GAA length correlates with severity of FRDA symptoms and inversely with age of onset. Thus, tissue-specific somatic instability of long GAA repeats may be implicated in the development of symptoms and disease progression...
2017: PloS One
https://www.readbyqxmd.com/read/29261623/microglial-activation-on-11c-cb184-pet-in-a-patient-with-cerebellar-ataxia-associated-with-hiv-infection
#20
Kenji Ishibashi, Yoshiharu Miura, Akifumi Imamura, Jun Toyohara, Kenji Ishii
A 63-year-old man complaining of prolonged imbalance underwent C-CB184 PET to assess microglial activation 3 years after being diagnosed with cerebellar ataxia associated with HIV infection. C-CB184 images revealed significant cerebellar uptake where MRI signal abnormalities were observed at disease onset, although these abnormalities had mostly disappeared at the time of C-CB184 PET. Microglia are believed to be a long-term reservoir for HIV infection, causing persistent immune activation (ie, chronic inflammation)...
December 19, 2017: Clinical Nuclear Medicine
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