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Ataxia or Gait Instability

Decai Tian, Xiaodong Zhu, Rong Xue, Peng Zhao, Yuanrong Yao
History In November 2012, a previously healthy 31-year-old woman was admitted to our hospital with a 2-month history of right-sided numbness, diplopia, and intermittent nausea and dizziness. She did not have a history of fever, weight loss, headache, photophobia, seizure, or extremity weakness. Physical examination revealed left abduction limitation and right-sided hypoesthesia. Kernig and Brudzinski signs were absent, and pathergy test results were negative. Laboratory evaluation revealed normal complete and differential blood counts, normal serum chemistry, and normal immune function...
November 2018: Radiology
Stuart G Jarrett, Katharine M Carter, Robert-Marlo Bautista, Daheng He, Chi Wang, John A D'Orazio
Blunted melanocortin 1 receptor (MC1R) signaling promotes melanocyte genomic instability in part by attenuating cAMP-mediated DNA repair responses, particularly nucleotide excision repair (NER) which recognizes and clears mutagenic photodamage. cAMP-enhanced NER is mediated by interactions between the ataxia telangiectasia mutated and Rad3-related (ATR) and xeroderma pigmentosum complementation group A (XPA) proteins. We now report a critical role for Sirtuin 1 (SIRT1) in regulating ATR-mediated phosphorylation of XPA...
October 16, 2018: Journal of Biological Chemistry
Markus Weber, Joachim Grifka, Tobias Renkawitz
Restoration of biomechanics is crucial in total hip arthroplasty, in order to ensure a free postoperative range of motion for activities of daily life. Failure may result in impingement and thus instability, limping and finally patient dissatisfaction. In daily practice, preoperative templating is usually performed on magnification-corrected, plain radiographs of the hip. Due to the divergence of the X-ray beams and the position of the pelvis in relation to the film, measurements on plain radiographs are susceptible to error...
October 15, 2018: Zeitschrift Für Orthopädie und Unfallchirurgie
Gustavo Noffs, Thushara Perera, Scott Camaron Kolbe, Camille Jessica Shanahan, Frederique Maria Christina Boonstra, Andrew Evans, Helmut Butzkueven, Anneke van der Walt, Adam Phillip Vogel
IMPORTANCE: Multiple sclerosis produces neurological impairments that are variable in duration, severity and quality. Speech is frequently impaired, resulting in decreased communication skills and quality of life. Advancements in technology now makes it possible to use quantitative acoustic assessment of speech as biomarkers of disease progression. OBSERVATIONS: Four domains of speech have been identified: articulation (slow articulation and imprecise consonants), voice (pitch and loudness instability), respiration (decreased phonatory time and expiratory pressure) and prosody (longer and frequent pauses, deficient loudness control)...
October 11, 2018: Autoimmunity Reviews
C Briani, A Visentin, A Salvalaggio, M Cacciavillani, L Trentin
BACKGROUND: Rituximab, a chimeric anti-CD20 monoclonal antibody (mAb), has been used in polyneuropathy associated with anti-MAG antibody polyneuropathy with controversial results. Herein, we report on two patients with anti-MAG antibody neuropathy and concurrent chronic lymphocytic leukemia (CLL), who dramatically responded to obinutuzumab, a novel glycoengineered humanized anti-CD20 mAb. METHODS: Patient 1 was a 82-year-old man with severe demyelinating sensory-motor neuropathy...
October 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Mark Christopher Pearce, Garry Choy, Robert Chun Chen
A 54-year-old man presented with progressive onset of lower limb paraesthesias, sensory ataxia, gait instability and lower limb weakness. Laboratory findings revealed low serum B12 levels. Magnetic resonance imaging showed long-segment symmetrically increased T2 signal within the dorsal columns of the spinal cord in the lower thoracic spine. The conglomeration of findings was consistent with a diagnosis of subacute combined degeneration of the spinal cord (SCD). Aside from mild residual paraesthesias, the patient's symptoms largely resolved after treatment with intramuscular injections of vitamin B12...
September 2018: Singapore Medical Journal
Ji-Hyun Choi, Jee-Young Lee, Han-Joon Kim, Beomseok Jeon
The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa...
September 2018: Journal of Movement Disorders
Gareth D Jones, Darren C James, Michael Thacker, David A Green
BACKGROUND: Rising-to-walk is an everyday transitional movement task rarely employed in gait rehabilitation. Sit-to-walk (STW) and sit-to-stand-and-walk (STSW), where a pause separates sit-to-stand and gait-initiation (GI) represent extremes of rising-to-walk behaviour. Delayed GI can indicate pathological impairment but is also observed in healthy individuals. We hypothesise that healthy subjects express consistent biomechanical parameters, among others that differ, during successful rising-to-walk task performance regardless of behaviour...
2018: PloS One
Rajech Sharkia, Abdelnaser Zalan, Azhar Jabareen-Masri, Hazar Zahalka, Muhammad Mahajnah
The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The clinical features of our patients were compared with several cases described in two recently published studies that documented clinical manifestation of this same mutation. Both affected siblings in our study expressed the previously described clinical features such as intellectual disability, strabismus, FTT/underweight, microcephaly and hypotonia...
October 5, 2018: European Journal of Medical Genetics
Xiao-Hong Wang, Jin-Chen Yang, Robert Soohoo, Devyn Cotter, Mei Yuan, Jiangyi Xia, Shuja Yaqub, Jesse Doty, Yu-Qiong Niu, Flora Tassone, Randi Hagerman, Lin Zhang, John Olichney
Objective: To examine cognitive deficits and associated brain activity in fragile X-associated tremor/ataxia syndrome (FXTAS) patients with parkinsonism (FXTp+), in relation to FXTAS patients without parkinsonism (FXTp-), and normal elderly controls (NC). Methods: Retrospective reviews were performed in 65 FXTAS patients who participated in the event-related brain potential (ERP) study and also had either a videotaped neurological examination or a neurological examination for extrapyramidal signs. Parkinsonism was defined as having bradykinesia with at least one of the following: rest tremor, postural instability, hypermyotonia, or rigidity...
2018: Frontiers in Genetics
Sandra Woelke, Eva Valesky, Shahrzad Bakhtiar, Helena Pommerening, L M Pfeffermann, Ralf Schubert, Stefan Zielen
Background: Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia, growth retardation, immunodeficiency, chronic pulmonary disease and chromosomal instability. Cutaneous granulomas are a known phenomenon in A-T but extra-dermal manifestation of granulomas at bone and synovia has not been reported so far. The clinical presentation, immunological findings, the long-term course and treatment options of eight patients with severe granulomas will be reported...
2018: Frontiers in Immunology
Boo Suk Na, Jongmok Ha, Ji-Hyung Park, Jong Hyeon Ahn, Minkyeong Kim, Ji Sun Kim, Hee-Tae Kim, Jin Whan Cho, Jinyoung Youn
INTRODUCTION: Even though gait symptoms are prominent in patients diagnosed with multiple system atrophy with predominant parkinsonism (MSA-P) compared with Parkinson's disease (PD), the gait patterns of MSA-P were not clearly elucidated. We investigated postural instability and gait disturbances in MSA-P compared with PD. METHODS: We enrolled 34 drug-naïve patients with PD and 26 with MSA-P, and 18 normal controls in this study. Parkinsonism was evaluated by the Unified Parkinson's disease rating scale (UPDRS) part 3 and cognition was assessed with mini-mental status exam (MMSE)...
September 17, 2018: Parkinsonism & related Disorders
C Michael Cawley, Brian M Howard, Daniel L Barrow
The presented case is of a 65-yr-old gentleman referred for thoracic myelopathy. He developed bilateral, nondermatomal foot dysesthesia 14 mo prior to presentation, which progressed to numbness below the L3 level. He reported progressive gait instability, bilateral lower extremity weakness, and required a cane for ambulation. He subsequently developed urinary incontinence, while bowel function was spared. The neurological examination upon presentation revealed lower extremity strength was reduced to 4/5 in all major muscle groups bilaterally, while sensation and proprioception were reduced below the L3 level...
September 24, 2018: Operative Neurosurgery (Hagerstown, Md.)
Yanbing Hou, Ruwei Ou, Jing Yang, Wei Song, Qiyong Gong, Huifang Shang
PURPOSE: Both the striatal-thalamo-cortical (STC) circuit and cerebello-thalamo-cortical (CTC) circuit play a critical role in Parkinson's disease (PD). METHODS: Resting-state functional MRI was used to assess functional connectivity (FC) focusing on the basal ganglia (BG) and cerebellum among early-stage drug-naïve PD patients with tremor-dominant (TD) PD patients with postural instability and gait dysfunction (PIGD) and healthy controls (HCs). RESULTS: Compared to HCs, both PD subgroups had higher FC between the cerebellum and paracentral lobule, sensorimotor areas; lower FC between the BG and superior frontal gyrus, and within the BG circuit; PD-TD patients showed higher FC between the BG and fusiform, paracentral lobule, cerebellum Lobule VI, and between the cerebellum and supplementary motor areas (SMA), insula; lower FC between the BG and rectus, sensorimotor areas, and within the cerebellum circuit; PD-PIGD patients showed higher FC between the cerebellum and middle frontal gyrus, precuneus; lower FC between the BG and cerebellum Crus II...
September 22, 2018: Neuroradiology
Aisha N Young, Pierre Amsellem, Tammy L Muirhead, LeeAnn Pack, Andrea R Matthews
Distal ulnar ostectomy may be performed palliatively in patients with distal ulnar osteosarcoma. Concurrent arthrodesis of the carpus has been proposed to counteract joint instability following transection of carpal ligaments associated with removal of the distal ulna. The objective of this prospective one group pretest, posttest study was to assess stability of the carpus following distal ulnar ostectomy using pre- and postoperative stress radiographic views in a group of canine cadaver limbs. Seven thoracic limbs from six canine cadavers weighing more than 20 kg were obtained...
September 21, 2018: Veterinary Radiology & Ultrasound
Sankarsh N Jetty, Zain Badar, Douglas Drumsla, Rajiv Mangla
Superficial siderosis is the slow accumulation of hemosiderin on the pial surfaces of the brain and spinal cord. The most common cause of intracranial superficial siderosis is secondary to subarachnoid hemorrhage. Rarely, superficial siderosis can also be caused by tumors. Superficial siderosis presents clinically as hearing loss and gait instability that progressively worsen. The diagnosis is primarily made by magnetic resonance imaging; however, susceptibility-weighted imaging (SWI) and T2* gradient echo (GRE) sequences demonstrate the highest sensitivity in detecting this condition...
2018: Journal of Clinical Imaging Science
Matthew Roberts, Christopher Talbot, Anthony Kay, Michael Price, Mathew Hill
BACKGROUND: Anterior load carriage represents a common daily and occupational activity. Carrying loads in front of the body could potentially increase instability during standing and walking. RESEARCH QUESTION: This study examined the effects of anterior load carriage on postural sway and gait parameters in healthy adults. METHODS: Twenty-nine participants (19 males, 10 females, age = 33.8 ± 12.7 years, height = 1.73 ± 0.07 m, mass = 75...
October 2018: Gait & Posture
Shohei Matsubayashi, Ritsu Tsujimoto, Makoto Osaki
Introduction: The most cases of excessive femoral anteversion may be asymptomatic, because the he hip joint is a ball joint. However, when the hip, knee, or ankle joint is in a pathological state, excessive femoral anteversion may not be compensated for and induce symptoms. Case report: A 16-year-old female with achondroplasia. Medullary compression by the odontoid process caused right hemiplegia at 10 months after birth and equinus foot concomitantly developed...
October 2018: Annals of Medicine and Surgery
Oliver Findling, Heiko Rust, Özgür Yaldizli, Dionne P H Timmermans, Alja Scheltinga, John H J Allum
Aims: To compare balance changes over time during the relapse phase of relapsing-remitting multiple sclerosis (RRMS) with balance control during the remitting phase. Methods: Balance control during stance and gait tasks of 24 remitting-phase patients (mean age 43.7 ± 10.5, 15 women, mean EDSS at baseline 2.45 ± 1.01) was examined every 3 months over 9 months and compared to that of nine relapsing patients (age 42.0 ± 12.7, all women, mean EDSS at relapse onset 3.11 ± 0.96) examined at relapse onset and 3 months later...
2018: Frontiers in Neurology
Fang-Yu Cheng, Yea-Ru Yang, Yih-Ru Wu, Chia-Feng Lu, Shih-Jung Cheng, Ray-Yau Wang
BACKGROUND AND OBJECTIVE: The purpose of this study was to investigate the effects of a specific exercise (SE) training program focusing on balance and muscle strengthening and a turning-based treadmill (TT) training program on cortical desynchronization and postural control in Parkinson's disease (PD). METHODS: Eighteen patients with PD were recruited and randomly assigned to the SE group, TT training group or control exercise (CE) group and participated in 12 30-min training sessions focusing on balance and strengthening, turning-based treadmill training, or general exercise training, respectively, followed by 10 minutes of over-ground walking in each session for 4 to 6 weeks...
August 31, 2018: IEEE Transactions on Neural Systems and Rehabilitation Engineering
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