Results 21 to 30 of about 1,939 (189)

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

The Turkish Journal of Pediatrics, 2020
Background. Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be challenging for clinicians. Case.
Pınar Arıcan, Nihal Olgaç Dündar, Özgür Kırbıyık, Dilek Çavusoğlu, Sema Bozkaya Yılmaz, Pınar Gençpınar   +5 more
doaj   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Alternative and Augmentative Communication in Amyotrophic Lateral Sclerosis Patients

Listy klinicke logopedie, 2022
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease. Among others, dysarthria and dysphagia (i.e. bulbar dysfunction) represent common clinical manifestations of ALS. Gradual impairment or even loss of speech functions puts ALS
Naděžda Lasotová, Adam Betík, Eva Vlčková   +2 more
doaj   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Stroke-associated dysarthria

Frontiers in Neurology
A stroke can damage various regions of the brain. Damage to the upper motor neurons of the pyramidal tracts causes unilateral upper motor neuron dysarthria or spastic dysarthria.
Lan-Xin Lin, Lan-Xin Lin, Shun-Yu Yao, Shun-Yu Yao, Quan Chen, Quan Chen, Miao-Qiao Du, Miao-Qiao Du, Xu-Hui Kang, Xu-Hui Kang, Dai-Yi Jiang, Dai-Yi Jiang, Yong Peng, Yong Peng   +13 more
doaj   +1 more source

Automatic Speech Recognition in Noise for Parkinson's Disease: A Pilot Study

Frontiers in Artificial Intelligence, 2021
The sophistication of artificial intelligence (AI) technologies has significantly advanced in the past decade. However, the observed unpredictability and variability of AI behavior in noisy signals is still underexplored and represents a challenge when ...
Alireza Goudarzi, Gemma Moya-Galé
doaj   +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

Oromotor Nonverbal Performance and Speech Motor Control: Theory and Review of Empirical Evidence

Brain Sciences, 2023
This position paper offers a perspective on the long-standing debate concerning the role of oromotor, nonverbal gestures in understanding typical and disordered speech motor control secondary to neurological disease. Oromotor nonverbal tasks are employed
Gary Weismer
doaj   +1 more source

Ataxic dysarthria

Rinsho Shinkeigaku, 2012
Ataxic dysarthria often refers to disturbance of coordinated articulatory movements in SCD subjects. In our recent study of acoustic analysis of selected speech samples obtained from normal and ataxic subjects, it was revealed that the ataxic speech diagnosed as having "scanning" was characterized by slower speaking rate, inconsistent segment duration ...
openaire   +3 more sources

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source