Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.

CONCLUSION: This case is the Latin American index for a new congenital phenotype of the CLN8 disease. The congenital phenotype has to be added to the clinical spectrum of the CLN8 disease. The suspicion of CLN8 disease should be genetically sustained in challenging cases of a neurodegenerative syndrome with psychomotor delay since birth, speech difficulty and seizures. The course includes ataxia, cerebellar atrophy, and early death. PMID: 30741402 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research

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Authors: Husain AM Abstract [Box: see text]. PMID: 31608668 [PubMed - as supplied by publisher]
Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
Researchers have recently proposed that the normal operation of DNA repair contributes to the epigenetic change that is observed to occur with age. This is an interesting concept, and we'll see how it progresses in the years ahead, particularly as therapies based on alteration of epigenetic markers emerge as an area of active medical research and development. Epigenetic decorations to DNA are a part of the complex regulatory system controlling the amounts and timing of protein production carried out by a cell. Cells react to changing circumstances with changes to epigenetic markers such as DNA methylation. Some of t...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
DiscussionSelf-reported hearing loss was associated with higher risk of incident subjective cognitive function decline in women.
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: October 2019Source: Alzheimer's &Dementia, Volume 15, Issue 10Author(s):
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: October 2019Source: Alzheimer's &Dementia, Volume 15, Issue 10Author(s):
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: October 2019Source: Alzheimer's &Dementia, Volume 15, Issue 10Author(s):
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: October 2019Source: Alzheimer's &Dementia, Volume 15, Issue 10Author(s):
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Publication date: October 2019Source: Alzheimer's &Dementia, Volume 15, Issue 10Author(s):
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
DiscussionOur results suggest a sexual dimorphism in BACE1-related upstream mechanisms of brain Aβ production and deposition. We argue that plasma BACE1 should be considered in further biomarker validation and qualification studies as well as in BACE1 clinical trials.
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
Condition:   Drug Resistant Epilepsy Interventions:   Other: mindfulness intervention;   Other: psycho educative programme Sponsor:   University Hospital, Grenoble Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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