Results 151 to 160 of about 259,206 (307)
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron +8 more
wiley +1 more source
Neuroimaging for differential diagnosis of transient neurological attacks
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Abstract Background Rapid yet comprehensive neuroimaging protocols are required for patients with suspected acute stroke. However, stroke mimics can account for approximately one in five clinically diagnosed acute ischemic strokes and the rate of thrombolyzed mimics can be as high as 17%.
Ying Wang, Hao Zha
wiley +1 more source
Linguistic-Based Mild Cognitive Impairment Detection Using Informative Loss [PDF]
arXivThis paper presents a deep learning method using Natural Language Processing (NLP) techniques, to distinguish between Mild Cognitive Impairment (MCI) and Normal Cognitive (NC) conditions in older adults. We propose a framework that analyzes transcripts generated from video interviews collected within the I-CONECT study project, a randomized controlled ...
arxiv
Decreased EEG synchronization in Alzheimer’s disease and mild cognitive impairment [PDF]
, 2004 Thomas Koenig +6 more
openalex +1 more source
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley +1 more source
Functional connectivity in behavioral variant frontotemporal dementia
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Decreased FC in the Salience Network (SN) is the most consistent finding in bvFTD. The brain's functional architecture is less interconnected and efficient in bvFTD. Symptom, behavior, cognition and disease severity are associated with changes in FC. Abstract Introduction Functional connectivity (FC)—which reflects relationships between neural activity
Luiz Kobuti Ferreira +3 more
wiley +1 more source
Alcohol drinking in middle age and subsequent risk of mild cognitive impairment and dementia in old age: a prospective population based study [PDF]
, 2004 Tiia Anttila +9 more
openalex +1 more source
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore +11 more
wiley +1 more source
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 WD patients with dystonia were more susceptible to suffer from low BMI and highߚlevel neurological dysfunctions. It was the first time to apply the PSE of EEG to detect the cortical synaptic activity in WD patients. The cortical activities of the WD patients with dystonia seemed to be more chaotic during the eyes‐closed and reading tasks but lower ...
Shaoru Zhang +9 more
wiley +1 more source