Neurons, Erythrocytes and Beyond -The Diverse Functions of Chorein.

In conclusion, much has been learned about the function of chorein and the molecular pathophysiology of chorea-acanthocytosis. Most importantly, a treatment halting or delaying the clinical course of this devastating disease may become available. A controlled clinical study is warranted, in order to explore whether the in vitro observations indeed reflect the in vivo pathology of the disease. PMID: 29179176 [PubMed - as supplied by publisher]
Source: Neuro-Signals - Category: Neurology Authors: Tags: Neurosignals Source Type: research

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Abstract GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over t...
Source: Yonsei Medical Journal - Category: Universities & Medical Training Authors: Tags: Yonsei Med J Source Type: research
This article discusses how imaging improves surgical techniques and outcomes and widens possibilities in translational neuroscience in Parkinson disease, essential tremor, generalized dystonia, and epilepsy. In movement disorders diffusion tensor imaging allows anatomic segment of cortical areas and different functional subregions within deep-seated targets to understand the side effects of stimulation and gain more data to describe the therapeutic mechanism of action. The introduction of visualization of white matter tracks increases the safety of neurosurgical techniques in functional neurosurgery and neuro-oncology.
Source: Neurologic Clinics - Category: Neurology Authors: Source Type: research
Discussion Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.” There are four distinct subtypes: Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected. Semilobar – the cerebral hemispheres are fused anteriorly bu...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Alternating hemiplegia of childhood (AHC) is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia in either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to de novo pathogenic mutations in the ATP1A3 gene. The burden of neuro morbidities is significant and includes epilepsy, ADHD, behavioral difficulties, motor, cognitive, adaptive, and learning impairment, ataxia, movement disorders, and migraine.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Mutations in PURA (coding for purine-rich element binding protein A) have recently been shown to cause the neurodevelopmental disorder previously associated with 5q31.3 microdeletion syndrome1,2. To date, children with PURA syndrome have been described with neonatal hypotonia, hypersomnolence, hypothermia, respiratory compromise, and feeding difficulties. All reported patients have moderate-severe neurodevelopmental delays with some later developing epilepsy and nonepileptic hyperkinetic movements (dystonia, dyskinesia, eye movement abnormalities).
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research
Mutations in PURA (coding for purine-rich element binding protein A) have recently been shown to cause the neurodevelopmental disorder previously associated with 5q31.3 microdeletion syndrome.1,2 To date, children with PURA syndrome have been described with neonatal hypotonia, hypersomnolence, hypothermia, respiratory compromise, and feeding difficulties. All reported patients have moderate-to-severe neurodevelopmental delays, with some developing epilepsy and nonepileptic hyperkinetic movements (dystonia, dyskinesia, and eye movement abnormalities) later.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Clinical Letter Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31628766 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
In this report, we present a case of UFS, not due to HFS, highlighting clinical red flags for an alternative diagnosis.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Conclusions Autophagy-related X-linked BPAN disease might still be underdiagnosed in female cases of infantile spasms.Skewed X-inactivation will have mainly influenced the uncommon, very early childhood neurodegenerative symptomatology in the present BPAN case. Oral levodopa substitution led to improvement in sleep disorder, hypersalivation, and swallowing.Reduced white matter and hypointense signals in SN and GP on susceptibility sequences in magnetic resonance imaging are characteristic radiological findings of advanced disease in NBIA. No BPAN-typical halo sign in T1-weighted scan at midbrain level was seen at the ...
Source: Neuropediatrics - Category: Neurology Authors: Tags: Original Article Source Type: research
Abstract Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p.Leu924Pro, and a VUS, p.Arg463Cys). Mutations associated with mild or severe phenotypes [rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), or early infantile epileptic encephalopathy (EIEE)] were expressed in HEK-293 cells. Paradoxically, the severity of human symptoms did not correlate with whether there was enough resi...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
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