Results 41 to 50 of about 202,497 (309)

Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García, H. Stephan Goedee, Leonard H. van den Berg, Boudewijn T. H. M. Sleutjes   +3 more
wiley   +1 more source

Multiple myeloma with plasmacytoma of the clivus bone presenting with multiple cranial nerve III, IV, and VI palsy: A diagnostic dilemma

Clinical Case Reports, 2023
Central nervous system (CNS) manifestation with cranial nerve palsy in multiple myeloma (MM) is a rare manifestation. Plasmacytoma originates from the bones of the skull base in 3% patients with MM but rarely develops from the soft tissues of the nasal ...
Chiranjiwi Prasad Shah, Rajan Chamlagain, Sangam Shah, Subodh Paudel, Sanjit Kumar Sah, Bipin Koirala, Kamal Pandit, Sanjeeta Sitaula, Anjan Shrestha   +8 more
doaj   +1 more source

Altered Dynamic Functional Network Connectivity in Post‐Stroke Aphasia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous studies examining post‐stroke aphasia (PSA) patients via resting‐state functional magnetic resonance imaging (rs‐fMRI) have predominantly focused on static functional connectivity. In contrast, the current investigation aims to elucidate the alterations in dynamic functional network connectivity (dFNC) among PSA patients ...
Guihua Xu, Yongsheng Wu, Junyu Qu, Rui Zhu, Wenwen Xu, Jiaxiang Xin, Dawei Wang   +6 more
wiley   +1 more source

Linkage of Routinely-Collected Maternity Data with a Cerebral Palsy Register: Matching Success and Temporal Assessment of Data Quality and Maternal Characteristics.

International Journal of Population Data Science, 2022
Objectives This study aimed to 1) establish the success rate of matching offspring in the Northern Ireland Cerebral Palsy Register (NICPR) to mother-infant pairs within the Northern Ireland Maternity System (NIMATS); and explore changes in 2) quality of
Lisa Kent, Claire Kerr, Karen McConnell, Oliver Perra, Kelly-Ann Eastwood   +4 more
doaj   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source

The application of orthopedic equipment in the form of orthoses in children suffering from cerebral palsy

Journal of Education, Health and Sport, 2019
Cerebral palsy is a broad term, including various, changing with age movement and postural disorders of cerebral origin [1]. Gait of children suffering from cerebral palsy is characterized by changeability.
Monika Stecko, Agata Wawryków, Katarzyna Korabiusz, Joanna Harasimowicz, Anna Fabian-Danielewska, Patrycja Piątek, Magdalena Żukowska, Agnieszka Kordek   +7 more
doaj   +3 more sources

Sleep Medication Use by people with Cerebral Palsy: A Population Level Data Linkage Study.

International Journal of Population Data Science, 2022
Objectives To (1) compare proportions of the population dispensed sleep medication, and rate (dispensations/month) and amount (milligrams/month) of dispensed sleep medication, in individuals with and without cerebral palsy (CP); and (2) describe ...
Lisa Kent, Mary-Elaine McCavert, Karen McConnell, Oliver Perra, Aideen Maguire, Claire Kerr   +5 more
doaj   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment

Frontiers in Genetics
Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic disorder characterized by recurrent focal neuropathies typically occurring at sites of nerve entrapment or compression.
Salvatore Savasta, Fabiola Serra, Lucrezia Galimberti, Francesco Fabrizio Comisi, Marcello Cossu, Alessandro Vannelli, Maddalena Masala, Sara Tanca, Stefania Murru   +8 more
doaj   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source