Results 41 to 50 of about 131,847 (254)

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology
Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication.
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
doaj   +1 more source

Quantification of tremor severity with a mobile tremor pen

Heliyon, 2020
Background: An objective evaluation of tremor severity is necessary to document the course of disease, the efficacy of treatment, or interventions in clinical trials. Most available objective quantification devices are complex, immobile, or not validated.
Tibor Zajki-Zechmeister, Mariella Kögl, Kerstin Kalsberger, Sebastian Franthal, Nina Homayoon, Petra Katschnig-Winter, Karoline Wenzel, László Zajki-Zechmeister, Petra Schwingenschuh   +8 more
doaj   +1 more source

Karakteristik Tremor Gunung Sinabung Berdasarkan Analisis Spektrum Frekuensi, Waveform Cross-Correlation dan Polarisasi Seismik

Jurnal Geosains dan Remote Sensing, 2023
Tremor di Gunung Sinabung pertama kali terekam pada Oktober-November 2013. Tremor dapat mengindikasikan aktivitas vulkanik pada gunung api tersebut, seperti osilasi aliran fluida, pergerakan fluida, sistem hidrotermal, dan resonansi aktivitas dapur magma,
Qori Fajar Hermawan, Sukir Maryanto, Hendra Gunawan   +2 more
doaj   +1 more source

Improvement of Primary Writing Tremor in Parkinson's Disease with Carbidopa/Levodopa [PDF]

, 2015
Background: Primary writing tremor is a task-specific phenomenon that has been described as variants of essential tremor or dystonia. Phenomenology Shown: We describe the case of a 63-year-old female who initially had primary writing tremor, later ...
Paule E. Greene, James P. Battista, Greene, Paule E., Battista, James P.   +3 more
core   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Cerebello-thalamic activity drives an abnormal motor network into dystonic tremor

NeuroImage: Clinical, 2022
Dystonic tremor syndromes are highly burdensome and treatment is often inadequate. This is partly due to poor understanding of the underlying pathophysiology. Several lines of research suggest involvement of the cerebello-thalamo-cortical circuit and the
Freek Nieuwhof, Ivan Toni, Michiel F. Dirkx, Cecile Gallea, Marie Vidailhet, Arthur W.G. Buijink, Anne-Fleur van Rootselaar, Bart P.C. van de Warrenburg, Rick C. Helmich   +8 more
doaj   +1 more source

Tremor: Clinical Phenomenology and Assessment Techniques [PDF]

, 2012
Tremors are among the most common movement disorders. As there can be considerable variability in the manner in which clinicians assess tremor, objective quantitative tools such as electromyography, accelerometry, and computerized, spiral analysis can be
Seth L. Pullman, Hess, Christopher W., Pullman, Seth L., Christopher W. Hess   +3 more
core   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source