Results 91 to 100 of about 11,333 (226)

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)

Clinics, 2011
OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a ...
Francisco A. Dias, Renato P. Munhoz, Salmo Raskin, Lineu César Werneck, Hélio A. G. Teive   +4 more
doaj   +1 more source

Deciphering Amyotrophic Lateral Sclerosis: What Phenotype, Neuropathology and Genetics Are Telling Us about Pathogenesis [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. Phenotypically, there is marked heterogeneity.
Appel, Stanley, Baloh, Robert H., Barohn, Richard, Brooks, Benjamin Rix, Elman, Lauen, Floeter, Mary Kay, Henderson, Christopher, Lomen-Hoerth, Catherine, Macklis, Jeffrey Daniel, Mccluskey, Leo, Mitsumoto, Hiroshi, Prezedborski, Serge, Ravits, John, Ringel, Steven, Rothstein, Jeffrey, Trojanowski, John, Van Den Berg, Leonard   +16 more
core   +1 more source

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, EarlyView.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

Expression of Human Endogenous Retrovirus-K in Spinal and Bulbar Muscular Atrophy

Frontiers in Neurology, 2019
Background: Spinal and Bulbar Muscular Atrophy (SBMA) is caused by the extension of the polyglutamine tract within the androgen receptor (AR) gene, and results in a multisystem presentation, including the degeneration of lower motor neurons. The androgen
Cody Rex, Marie-Josée Nadeau, Renée Douville, Renée Douville, Kerri Schellenberg   +4 more
doaj   +1 more source

Oral Health Care Services, Barriers and Enablers to Maintaining Good Oral Health in Motor Neurone Disease: A Scoping Review

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives The objective of this scoping review was to map existing literature on oral health and related care in individuals with Motor Neurone Disease (MND). Specifically, the review aimed to identify barriers and facilitators to maintaining oral hygiene, summarise available clinical guidelines and patient‐facing resources, and examine how ...
Mariam A. Khokhar, Lucy A. O'Malley, Anne‐Marie Glenny, Xiaohui Chen   +3 more
wiley   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Differentiating lower motor neuron syndromes [PDF]

, 2017
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
Cornblath, DR, Garg, N, Howells, J, Huynh, W, Kiernan, MC, Krishnan, AV, Matamala, JM, Park, SB, Pollard, JD, Reilly, MM, Spies, J, Vucic, S, Yiannikas, C   +12 more
core  

Atypical MRI features in familial adult onset Alexander disease: case report [PDF]

, 2016
BACKGROUND: Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. CASE PRESENTATION: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the ...
Anna Zhou, Heng Zhou, Huabing Wang, Lin Zhao, Xiaoqing Gong, Xindi Li, Xinghu Zhang, Yonghong Liu   +7 more
core   +1 more source

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease

Molecular Genetics and Metabolism Reports, 2018
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death.
Josef Finsterer, Claudia Stöllberger
doaj   +3 more sources