Database : MEDLINE
Search on : Gait and Ataxia [Words]
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[PMID]: 29281074
[Au] Autor:Bot M; van Rootselaar F; Contarino MF; Odekerken V; Dijk J; de Bie R; Schuurman R; van den Munckhof P
[Ad] Address:Department of Neurosurgery, Academic Medical Center, Amsterdam, The Nether-lands.
[Ti] Title:Deep Brain Stimulation for Essential Tremor: Aligning Thalamic and Posterior Subthalamic Targets in 1 Surgical Trajectory.
[So] Source:Oper Neurosurg (Hagerstown);, 2017 Dec 21.
[Is] ISSN:2332-4260
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Ventral intermediate nucleus (VIM) deep brain stimulation (DBS) and posterior subthalamic area (PSA) DBS suppress tremor in essential tremor (ET) patients, but it is not clear which target is optimal. Aligning both targets in 1 surgical trajectory would facilitate exploring stimulation of either target in a single patient. OBJECTIVE: To evaluate aligning VIM and PSA in 1 surgical trajectory for DBS in ET. METHODS: Technical aspects of trajectories, intraoperative stimulation findings, final electrode placement, target used for chronic stimulation, and adverse and beneficial effects were evaluated. RESULTS: In 17 patients representing 33 trajectories, we successfully aligned VIM and PSA targets in 26 trajectories. Trajectory distance between targets averaged 7.2 (range 6-10) mm. In all but 4 aligned trajectories, optimal intraoperative tremor suppression was obtained in the PSA. During follow-up, active electrode contacts were located in PSA in the majority of cases. Overall, successful tremor control was achieved in 69% of patients. Stimulation-induced dysarthria or gait ataxia occurred in, respectively, 56% and 44% of patients. Neither difference in tremor suppression or side effects was noted between aligned and nonaligned leads nor between the different locations of chronic stimulation. CONCLUSION: Alignment of VIM and PSA for DBS in ET is feasible and enables intraoperative exploration of both targets in 1 trajectory. This facilitates positioning of electrode contacts in both areas, where multiple effective points of stimulation can be found. In the majority of aligned leads, optimal intraoperative and chronic stimulation were located in the PSA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/ons/opx232

  2 / 3058 MEDLINE  
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[PMID]: 29509064
[Au] Autor:Wang J; Xiao K; Zhou W; Gao C; Chen C; Shi Q; Dong XP
[Ad] Address:a State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases (Zhejiang University) , National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention , Chang-Bai
[Ti] Title:A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.
[So] Source:Prion;:1-18, 2018 Mar 06.
[Is] ISSN:1933-690X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrP plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) - associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs. She is still alive but with akinetic mutism 21 months after onset. Observation of intense signal changes in cortical regions (cortical ribboning) in diffusion weighted imaging (DWI) MRI scanning and positive protein 14-3-3 in cerebrospinal fluid (CSF) proposed the diagnosis of sporadic CJD. The final diagnosis of P102L GSS was made after PRNP sequencing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1080/19336896.2018.1447733

  3 / 3058 MEDLINE  
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[PMID]: 29348376
[Au] Autor:Sato K; Ohi T; Shozaki T; Kariya S
[Ad] Address:Department of Neurology, Ajirogikai Uji Hospital.
[Ti] Title:[Benign Outcome of Cochlear Implantation in a Patient with Superficial Siderosis].
[So] Source:Brain Nerve;70(1):73-80, 2018 Jan.
[Is] ISSN:1881-6096
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract:We report the case of a 38-year-old man with gait disorder and hearing loss. The patient had developed gait disorder due to a cervical meningioma since 4 year-old disappeared for 15 years after the surgical removal of the meningioma. However, at the age of 21 year-old, the gait disorder reappeared and worsened progressively. Sensorineural hearing loss (SNHL) and epileptic seizures developed during the disease course, and he was diagnosed with superficial siderosis (SS). When he was 37 years old, he experienced sudden-onset of right-side hearing impairment and was considered a candidate for cochlear implantation (CI) at the otorhinolaryngology clinic of the nearby University Hospital. He underwent CI in November 2014. Eight months after the operation, his right side hearing improved although ataxia, hearing loss, and pyramidal sign persisted. At the long term follow-up of 29 months after CI, his hearing remained at the improved level. Thus, CI may be an effective long-term treatment for SNHL in patients with SS and could prevent the progression of his hearing loss. (Received February 1, 2017; Accepted August 23, 2017; Published January 1, 2018).
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Process
[do] DOI:10.11477/mf.1416200952

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[PMID]: 29502317
[Au] Autor:Keddie S; Adams A; Kelso ARC; Turner B; Schmierer K; Gnanapavan S; Malaspina A; Giovannoni G; Basnett I; Noyce AJ
[Ad] Address:The Royal London Hospital, Emergency Care and Acute Medicine Clinical Academic Group, Neuroscience, Barts Health NHS Trust, London, UK.
[Ti] Title:No laughing matter: subacute degeneration of the spinal cord due to nitrous oxide inhalation.
[So] Source:J Neurol;, 2018 Mar 03.
[Is] ISSN:1432-1459
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Whilst the dangers of 'legal highs' have been widely publicised in the media, very few cases of the neurological syndrome associated with the inhalation of nitrous oxide (N O) have been reported. Here we set out to raise awareness of subacute degeneration of the spinal cord arising from recreational N O use so that formal surveillance programs and public health interventions can be designed. METHODS: Case series documenting the clinical and investigational features of ten consecutive cases of subacute degeneration of the spinal cord presenting to a hospital with a tertiary neurosciences service in East London. RESULTS: Sensory disturbance in the lower (± upper) limbs was the commonest presenting feature, along with gait abnormalities and sensory ataxia. MRI imaging of the spine showed the characteristic features of dorsal column hyperintensity on T weighted sequences. Serum B levels may be normal because subacute degeneration of the spinal cord in this situation is triggered by functional rather than absolute B deficiency. DISCUSSION: A high index of suspicion is required to prompt appropriate investigation, make the diagnosis and commence treatment early. This is the largest reported series of patients with subacute degeneration of the spinal cord induced by recreational use of N O. However, the number of patients admitted to hospital likely represents the 'tip of the iceberg', with many less severe presentations remaining undetected. After raising awareness, attention should focus on measuring the extent of the problem, the groups affected, and devising ways to prevent potentially long-term neurological damage.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher
[do] DOI:10.1007/s00415-018-8801-3

  5 / 3058 MEDLINE  
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[PMID]: 29501085
[Au] Autor:Baizabal-Carvallo JF; Alonso-Juarez M
[Ad] Address:Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA; University of Guanajuato, Mexico. Electronic address: baizabaljf@hotmail.com.
[Ti] Title:Vertical nystagmus associated with glutamic acid decarboxylase antibodies responding to cyclophosphamide.
[So] Source:J Neuroimmunol;317:5-7, 2018 Apr 15.
[Is] ISSN:1872-8421
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Several neurological disorders have been described in patients with autoimmunity associated with GAD antibodies. Among these disorders, nystagmus and oculomotor dysfunction are increasingly recognized, although they have been rarely reported isolated or as the main manifestation of anti-GAD autoimmunity. Moreover, therapeutic approaches for such patients are unclear. Here we present a 44-year-old man with disabling oscillopsia secondary to downbeat nystagmus, abnormal saccades, ocular pursuit and optokinetic nystagmus, as well as mild gait ataxia and cerebellar atrophy associated with high serum GAD antibodies with intrathecal secretion of such antibodies. The patient did not have clinical benefit with plasma exchange, but had a robust symptomatic improvement with cyclophosphamide. We discuss the possible pathogenic role of GAD antibodies in nystagmus and the role of immunotherapy in these patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:In-Data-Review

  6 / 3058 MEDLINE  
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[PMID]: 29453961
[Au] Autor:Glineburg MR; Todd PK; Charlet-Berguerand N; Sellier C
[Ad] Address:Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
[Ti] Title:Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.
[So] Source:Brain Res;, 2018 Feb 14.
[Is] ISSN:1872-6240
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild brain atrophy. The cause of FXTAS is a premutation expansion, of 55 to 200 CGG repeats localized within the 5'UTR of FMR1. These repeats are transcribed in the sense and antisense directions into mutants RNAs, which have increased expression in FXTAS. Furthermore, CGG sense and CCG antisense expanded repeats are translated into novel proteins despite their localization in putatively non-coding regions of the transcript. Here we focus on two proposed disease mechanisms for FXTAS: 1) RNA gain-of-function, whereby the mutant RNAs bind specific proteins and preclude their normal functions, and 2) repeat-associated non-AUG (RAN) translation, whereby translation through the CGG or CCG repeats leads to the production of toxic homopolypeptides, which in turn interfere with a variety of cellular functions. Here, we analyze the data generated to date on both of these potential molecular mechanisms and lay out a path forward for determining which factors drive FXTAS pathogenicity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher

  7 / 3058 MEDLINE  
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[PMID]: 29494269
[Au] Autor:Austin HM; Balendra N; Langenderfer JE; Ustinova KI
[Ad] Address:a Department of Physical Therapy , Central Michigan University , Mt. Pleasant , MI , USA.
[Ti] Title:Decomposition of leg movements during overground walking in individuals with traumatic brain injury.
[So] Source:Brain Inj;:1-8, 2018 Mar 01.
[Is] ISSN:1362-301X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Walking requires precise coordination of bilateral lower extremity motions at all joints. This ability can be affected by traumatic brain injury (TBI). The study investigated inter-joint coordination of lower extremities during overground walking after TBI. METHODS: Ten individuals with post-injury ataxia, postural stability and gait abnormalities, as well as 10 sex- and age-matched control subjects were involved in the study. Participants walked at self-selected speed in three experimental conditions: normal walking without any additional task; walking with a narrow base of support, and walking while holding a cup full of water. Inter-joint coordination was analysed as the percentage of gait cycle during which the leg movement was decomposed with 0% indicating simultaneous motion of the two joints (i.e. hip-knee, knee-ankle, and hip-ankle) through the entire gait cycle or 100% indicating motion of only one joint. Decomposition was calculated for each pair of joints and for the left and right leg separately. RESULTS: Participants with TBI showed greater decomposition indices and poorer inter-joint coordination respectively than control individuals for all joint pairs (p < 0.01). Walking with the narrower base of support or with a cup, increased movement decomposition in the TBI group, but not in the control group. CONCLUSION: The results revealed post-injury gait impairment that manifests as decomposition of multi-joint motions of the lower extremities during overground walking.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1080/02699052.2018.1444203

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[PMID]: 29317501
[Au] Autor:Kanack AJ; Newsom OJ; Scaglione KM
[Ad] Address:From the Department of Biochemistry and the Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin 53226.
[Ti] Title:Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.
[So] Source:J Biol Chem;293(8):2735-2743, 2018 Feb 23.
[Is] ISSN:1083-351X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The accumulation of misfolded proteins promotes protein aggregation and neuronal death in many neurodegenerative diseases. To counteract misfolded protein accumulation, neurons have pathways that recognize and refold or degrade aggregation-prone proteins. One U-box-containing E3 ligase, C terminus of Hsc70-interacting protein (CHIP), plays a key role in this process, targeting misfolded proteins for proteasomal degradation. CHIP plays a protective role in mouse models of neurodegenerative disease, and in humans, mutations in CHIP cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16), a fatal neurodegenerative disease characterized by truncal and limb ataxia that results in gait instability. Here, we systematically analyzed CHIP mutations that cause SCAR16 and found that most SCAR16 mutations destabilize CHIP. This destabilization caused mutation-specific defects in CHIP activity, including increased formation of soluble oligomers, decreased interactions with chaperones, diminished substrate ubiquitination, and reduced steady-state levels in cells. Consistent with decreased CHIP stability promoting its dysfunction in SCAR16, most mutant proteins recovered activity when the assays were performed below the mutants' melting temperature. Together, our results have uncovered the molecular basis of genetic defects in CHIP function that cause SCAR16. Our insights suggest that compounds that improve the thermostability of genetic CHIP variants may be beneficial for treating patients with SCAR16.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.1074/jbc.RA117.000477

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[PMID]: 29492593
[Au] Autor:Sharapova SO; Valochnik AV; Guryanova IE; Sakovich IS; Aleinikova OV
[Ad] Address:Research Department, Immunology Laboratory, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Settlement of Borovlyany, 223053, Minsk region, Belarus. sharapovasv@gmail.com.
[Ti] Title:Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.
[So] Source:Immunogenetics;, 2018 Feb 28.
[Is] ISSN:1432-1211
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio-sensitivity, and a predisposition to malignancy. We present the case of a child with coexistent AT and trisomy X (47,XXX). We used fluorescent in situ hybridization (FISH) to confirm that this person had 47,XXX karyotype in blood cells, bone marrow, fibroblasts, and buccal smear. Standard cytogenetic studies (not banded) were conducted on blood cells. G-banding analysis was performed on bone marrow cells at the time of the leukemia diagnosis. Flow cytometric investigation of lymphocytes and Sanger sequencing of the ATM gene were used for diagnosis confirmation and description. We report the case of an 11-year-old girl at remission after having T cell acute leukemia for 7 years with progressive signs of ataxia-telangiectasia and with additional X chromosome since birth. At the age of 2 years and 7 months, she was diagnosed with pre-T acute leukemia. From the age of four, she had gait abnormalities. AT was established at the age of seven based on clinical signs and laboratory findings (increased alpha fetoprotein-AFP [227]) and confirmed by detecting compound heterozygous truncating mutations in the ATM gene (p.Y705X and p.L2312I). These genetic findings have not been previously reported in AT and our "double hit" case demonstrates the value of careful clinical evaluation of children with an established genetic diagnosis. Measurement of AFP levels should be considered in patients with neurologic abnormalities after leukemia treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1007/s00251-018-1056-4

  10 / 3058 MEDLINE  
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[PMID]: 29489040
[Au] Autor:Cirillo E; Del Giudice E; Micheli R; Cappellari AM; Soresina A; Dellepiane RM; Pietrogrande MC; Dell'Era L; Specchia F; Pession A; Plebani A; Pignata C
[Ad] Address:Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples, Naples, Italy.
[Ti] Title:Minimum effective betamethasone dosage on the neurological phenotype in patients with Ataxia-Telangiectasia: a multicenter observer-blind study.
[So] Source:Eur J Neurol;, 2018 Feb 28.
[Is] ISSN:1468-1331
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Ataxia-Telangiectasia (A-T) is a rare neurodegenerative disease, due to A-T Mutated (ATM) gene mutations, which typically presents with signs of progressive neurological dysfunction, cerebellar ataxia and uncoordinated movements. A-T severely affects patients' quality of life (QoL). Successful treatment options are still not available. Aim of this multicenter study, performed with a blind evaluation procedure, was to define the minimal effective dosage of oral betamethasone, thus preventing the occurrence of side effects. METHODS: Nine A-T patients were enrolled to receive betamethasone at increasing dosages of 0.001, 0.005 and 0.01 mg/kg/day. Neurological assessment and the evaluation of QoL were performed through the Scale for the Assessment and Rating of Ataxia (SARA) and the Italian version of the Children Health Assessment Questionnaire (CHAQ) at each time-point. Drug safety profile was evaluated. Patients were categorized as responders, partial responders and non-responders. RESULTS: Four out 9 patients had a benefit at the dose of 0.005 mg/kg/day of oral betamethasone. Using the higher dosage, only 1 additional patient had a positive response. Conversely, a daily dose of 0.001 mg/kg was ineffective. A correlation between the serum ACTH levels and the clinical response was observed. Five of 30 CHAQ items improved in 4 patients. CONCLUSIONS: These data suggest that a short-term betamethasone oral treatment, at a daily dosage of 0.005 mg/kg, is effective in some patients. Pre-existing risk factors for side-effects should be taken into account before therapy. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher
[do] DOI:10.1111/ene.13606


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