Presentation
Characteristic presentations are failure to thrive, cerebellar ataxia, respiratory insufficiency, and hypotonia or hypertonia. [ncbi.nlm.nih.gov]
Entire Body System
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Fatigue
Fatigue, problems with sleep, headaches, stupor, slurred speech, and anemia are also found in chronic lead poisoning. • A "lead hue" of the skin with pallor • ]Burton line • Children with chronic poisoning may refuse to play or may have hyperkinetic or [slideshare.net]
These symptoms may consist of twitching during REM sleep but may also include other types of simple motor movements and sleep talking or yelling. 30-31 Day time somnolence and fatigue are rare because gross sleep architecture and the sleep-wake cycle [bjmp.org]
In general, these diseases have typical symptoms, such as, weakness, fatigue, motor impairment, ataxia, dysphagia, urinary complications, sensory loss, depression, cognitive decline, sleep disorders, among others [8-16]. [jneuro.com]
Liver, Gall & Pancreas
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Liver Dysfunction
We describe a female infant with the above core features in whom an initial rapid neurological deterioration and associated transient left ventricular hypertrophy and liver dysfunction was followed by relative clinical stability after ten months of age [ncbi.nlm.nih.gov]
Musculoskeletal
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Lordosis
This female patient died at the age of 72 years after an approximately 20-year history of peculiar posture with progressive head drooping (Kubisagari) and lordosis (bowed posture), parkinsonism, dysphonia and slight muscle wasting of the face, tongue, [ncbi.nlm.nih.gov]
Psychiatrical
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Auditory Hallucination
Here we present a case referred to a "first-episode" psychosis clinic with socio-occupational decline, auditory hallucinations and paranoid ideation who subsequently exhibited a rapid, severe cognitive and behavioral decline. [ncbi.nlm.nih.gov]
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Paranoid Ideation
Here we present a case referred to a "first-episode" psychosis clinic with socio-occupational decline, auditory hallucinations and paranoid ideation who subsequently exhibited a rapid, severe cognitive and behavioral decline. [ncbi.nlm.nih.gov]
Onset
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Neonate-Onset
A clinical pattern of neonatal-onset intractable seizure, profound developmental delay, muscular hypotonia, hypsarrhythmia, and no focal abnormality of brain MRI should prompt initiation of molecular genetic analysis of SYNJ1. [ncbi.nlm.nih.gov]
Neurologic
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Cognitive Impairment
ONDRI has set out to examine both differences and similarities between neurodegenerative diseases such as: Alzheimer’s disease (AD), mild cognitive impairment (MCI), Parkinson’s disease (PD), vascular cognitive impairment (VCI), frontotemporal dementia [braininstitute.ca]
Emerging diagnoses (37.4%) were dementia with Lewy bodies (DLB) in 29 subjects, Parkinson disease (PD) in 22, multiple system atrophy (MSA) in two, and mild cognitive impairment (MCI) in 12. [ncbi.nlm.nih.gov]
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Cerebellar Ataxia
Characteristic presentations are failure to thrive, cerebellar ataxia, respiratory insufficiency, and hypotonia or hypertonia. [ncbi.nlm.nih.gov]
Clinical findings Cerebellar ataxia. Location Cerebellum and connecting tracts. Motor neuron disease Examples Amyotrophic lateral sclerosis, spinobulbar muscle atrophy (Kennedy’s disease), spinal muscular atrophy. Clinical findings Motor weakness. [medical-dictionary.thefreedictionary.com]
striatonigral degeneration), there is only parkinsonism, but in others, often called parkinson-plus syndromes, there is parkinsonism plus signs of cerebellar ataxia (e.g., olivopontocerebellar atrophy), orthostatic hypotension (e.g., Shy-Drager syndrome [jci.org]
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Headache
Fatigue, problems with sleep, headaches, stupor, slurred speech, and anemia are also found in chronic lead poisoning. • A "lead hue" of the skin with pallor • ]Burton line • Children with chronic poisoning may refuse to play or may have hyperkinetic or [slideshare.net]
These disorders include epilepsy, Alzheimer disease and dementia, stroke, migraine and other headache disorders, multiple sclerosis, Parkinson's disease, neuroinfections, brain tumours, traumatic disorders of the nervous system due to head trauma, and [imedpub.com]
The most common symptoms of brain tumors are: headaches seizures numbness or tingling in your arms or legs nausea vomiting changes in personality difficulty with movement or balance changes in your hearing, speech, or vision The type of treatment you’ [healthline.com]
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Cerebellar Sign
Differentiating features White matter disorders Gray matter disorders Cerebellar signs Early,prominent late Fundal examination May show optic atrophy Retinal degeneration EEG Diffuse delta slowing Epileptic form discharges EMG Slowed nerve conduction [slideshare.net]
These two subjects were diagnosed with MSA of the cerebellar subtype based on the presence of cerebellar signs plus dysautonomic features (e.g., orthostatic hypotension, urinary incontinence and erectile dysfunction). [journals.plos.org]
Workup
EEG
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Hypsarrhythmia
The brain MRI is normal and EEG showed hypsarrhythmia. The diagnosis was achieved via whole-genome sequencing which showed homozygous mutation in SYNJ1 (c.709C T, p.Gln237*). [ncbi.nlm.nih.gov]
Hypertrophy
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Ventricular Hypertrophy
We describe a female infant with the above core features in whom an initial rapid neurological deterioration and associated transient left ventricular hypertrophy and liver dysfunction was followed by relative clinical stability after ten months of age [ncbi.nlm.nih.gov]
Treatment
In a small clinical trial of cannabis oil, all patients showed demonstrative results in the treatment of their behavioral and psychoactive dementia. [solcbd.com]
Finding the genes responsible for Parkinson’s disease could give scientists a leg up in developing future treatments. Researchers are advancing our understanding of Parkinson’s disease and the therapies for treatment. [brainfacts.org]
Cross-talk between basic and clinical researchers can lead to new treatment opportunities. [neurosciences.ucsd.edu]
Moreover, CB2 agonists and inverse agonists displayed neuroprotective effects and they so can be candidated as new therapeutich drugs for the treatment of these pathologies. [books.google.com]
Prognosis
Each hypothesis explains some of the phenomena associated with schizophrenia and it is probable that many variables described in these hypotheses interact to produce a disorder characterized by heterogeneous symptomatology, progression and prognosis. [ncbi.nlm.nih.gov]
You will learn about the biology of neurodegeneration, the clinical symptoms, course and prognosis. Particular attention will be paid to symptoms of mental and cognitive disorder, their diagnosis and management. [birmingham.ac.uk]
ONDRI: Ontario Neurodegenerative Disease Research Initiative The overall mission of the Ontario Neurodegenerative Disease Research Initiative (ONDRI) is to catalyze advances in neurodegenerative disease research that improve diagnosis, prognosis, care [braininstitute.ca]
Etiology
In the last 10 years insights concerning the etiology, diagnosis and pathogenesis of these diseases have come from research carried out by Chinese neuroscientists. [ncbi.nlm.nih.gov]
Scientists and physicians are working out the genetics, biochemistry, etiology (the cause of a disease), and pathogenesis [chapter and verse (i.e., story) of how a disease develops] of neurodegenerative disorders. [journeywithparkinsons.com]
Evidence for an Infectious Etiology in Alzheimer’s Disease By Brian Balin, Christine Hammond, C. Scott Little, Denah Appelt and Susan Hingley 1943 Open access peer-reviewed 3. [intechopen.com]
Etiology Defect in functioning of SOD (Superoxide dismutase) ed uptake of glutamate by glutamate transporters Overactivity of glutamate at NMDA receptors Excitotoxicity 34. [slideshare.net]
Epidemiology
Additionally, challenges in studying the neurodevelopmental basis of neurodegeneration experimentally and epidemiologically are presented. [ncbi.nlm.nih.gov]
[…] and cognition, including PSP and CBD Objectives Know about developments in the understanding of the genetic and molecular basis of neurodegenerative disorders Know about the most affective approaches in palliative care Understand current views of the epidemiology [bna.org.uk]
The epidemiological prevalence is reported to be 15.7% between 80 and 84 years, 21% between 85 and 90 years, and 65.9% for the population aged 100 years and older [3,4]. [karger.com]
1 Complementary and alternative medicine for treating amyotrophic lateral sclerosis: A narrative review. 61 31692669 2019 2 Spatial Epidemiology of Sporadic Creutzfeldt-Jakob Disease in Apulia, Italy. 61 Puopolo M...Pocchiari M 31563913 2019 3 [Clinical [malacards.org]
Pathophysiology
Although a number of hypotheses have been proposed in an attempt to explain the pathophysiology of schizophrenia no single theory seems to account for all facets of the disease. [ncbi.nlm.nih.gov]
Published on Aug 24, 2012 A very introduction to the Pathophysiology of some Neurodegenerative disorder. Song by: Angus and Julia stone - Devils tears WATCH PART II on FACEBOOK!! :::: ... Category Education Loading... [youtube.com]
Staffan Holmin, Neuroimaging and image-guided vascular interventions Janne Johansson, Biological dementia research Helena Karlström, Alzheimer's disease: focus on gamma-secretase Krister Kristensson, Neurodegenerative disease mechanisms Johan Lundberg, Pathophysiology [ki.se]
Prevention
An adequate N-3 diet will probably prevent most psychotic episodes and prove that neurodegenerative disorder with dementia is also to a large extent not only preventable but avoidable. [ncbi.nlm.nih.gov]
Brain injuries can never be fully prevented. [books.google.com]
Verubecestat, Atabecestat Not Beneficial for Preventing Alzheimer Disease Use of the orally administered β-site amyloid precursor protein-cleaving enzyme 1 inhibitors, verubecestat and atabecestat, does not prevent clinical progression to Alzheimer disease [neurologyadvisor.com]
It also promotes and accelerates exploitation of scientific opportunities, confront barriers to progress and define novel approaches to prevention, intervention, treatment and care. [scitecheuropa.eu]