Neurodegeneration: Causes & Reasons

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Possible Causes for Neurodegeneration

Vitamin B12 Deficiency

[…] on cognitive function, this study lends support to the notion that high serum folate concentrations in older people with VB12 deficiency may be associated with increased neurodegeneration [ncbi.nlm.nih.gov]

Oxidative stress is implicated in various human diseases and conditions, such as a neurodegeneration, which is the major symptom of vitamin B 12 deficiency, although the underlying [ncbi.nlm.nih.gov]

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. [doi.org]

Combined Oxidative Phosphorylation Deficiency Type 24

Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. [ncbi.nlm.nih.gov]

Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F Title Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration [genome.jp]

Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721 601047 Autosomal dominant CAV3 3p25.3 Rippling muscle disease 606072 601253 Autosomal dominant [mnglabs.com]

Pallidopyramidal Syndrome

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associates neurodegeneration (PLAN): Review of two major neurodegeneration with brain iron accumulation [annalsofian.org]

AB - Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. [research.manchester.ac.uk]

Understanding how FBXO7 mutations cause disease will shed further light on the molecular mechanisms of neurodegeneration, with potential implications also for more common [moh-it.pure.elsevier.com]

X-Linked Parkinsonism with Spasticity

Test Registry Neurodegeneration With Brain Iron Accumulation 3 Basal Ganglia Disease, Adult-Onset Neuroferritinopathy NBIA3 606159 Genetic Test Registry Neurodegeneration [ukgtn.nhs.uk]

MeSH Descriptor Source: MeSH 2019 deskriptory Main Heading Hallervordenův-Spatzův syndrom English Heading Pantothenate Kinase-Associated Neurodegeneration See (Czech) neurodegenerace [medvik.cz]

Amyotrophic lateral sclerosis, susceptibility to DNAJC6 Parkinson disease 19a, juvenile-onset EIF4G1 Parkinson disease 18 FBXO7 Parkinson disease 15, autosomal recessive FTL Neurodegeneration [asperbio.com]

Wolfram Syndrome

This work is necessary to position the field for future clinical trials to test interventions for WFS neurodegeneration. [clinicaltrials.gov]

In patients with Wolfram syndrome, these mechanisms underlie progressive neurodegeneration and endocrine dysfunction. [care.diabetesjournals.org]

Ultimately, a better understanding of the trajectory of neurodegeneration in WFS and the development of effective interventions may be relevant to other more common neurodegenerative [clinicaltrials.gov]

Lafora Disease

These animals did not show the increase in markers of neurodegeneration, the impairments in electrophysiological properties of hippocampal synapses, nor the susceptibility [ncbi.nlm.nih.gov]

Lafora disease is a metabolic disorder resulting in accumulation of water-insoluble glucan in the cytoplasm, and manifests as a debilitating neurodegeneration that ends with [ncbi.nlm.nih.gov]

Our results emphasize the relevance of the laforin-malin complex in the control of glycogen metabolism and highlight altered glycogen accumulation as a key contributor to neurodegeneration [ncbi.nlm.nih.gov]

Progressive Myoclonic Epilepsy Type 3

Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. [malacards.org]

Symptoms The list of signs and symptoms mentioned in various sources for Epilepsy, progressive myoclonic 3 includes the 6 symptoms listed below: * Myoclonic epilepsy * Neurodegeneration [checkorphan.org]

[…] myoclonic type 3 The list of signs and symptoms mentioned in various sources for Epilepsy, progressive myoclonic 3 includes the 6 symptoms listed below: * Myoclonic epilepsy * Neurodegeneration [checkorphan.org]

Hallervorden-Spatz Syndrome

(disorder) Pigmentary pallidal degeneration Neurodegeneration With Brain Iron Accumulation type 1 Pantothenate Kinase-Associated Neurodegeneration NEURODEGENERATION WITH [wikidata.org]

Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). [ncbi.nlm.nih.gov]

BRAIN IRON ACCUMULATION 1; NBIA1 PKAN Pkan Neuroaxonal Dystrophy, Juvenile-Onset edit English pantothenate kinase-associated neurodegeneration A neurodegeneration with brain [wikidata.org]

Spinal and Bulbar Muscular Atrophy

Pre-clinical studies using animal models show that the pathogenic AR-mediated neurodegeneration is suppressed by androgen inactivation, the efficacy of which has been tested [ncbi.nlm.nih.gov]

Animal studies have revealed that the pathogenesis of SBMA depends on the level of serum testosterone, and that androgen deprivation mitigates neurodegeneration through inhibition [ncbi.nlm.nih.gov]

Abstract Expanded polyglutamine tracts cause neurodegeneration through a toxic gain-of-function mechanism. [ncbi.nlm.nih.gov]

McLeod Neuroacanthocytosis Syndrome

[…] label Core neuroacanthocytosis syndromes, including: Chorea-acanthocytosis (ChAc); McLeod syndrome (MLS); Huntington's disease-like 2 (HDL2); Pantothenate kinase associated neurodegeneration [bio2rdf.org]

The mechanism by which these mutations cause neurodegeneration is not known. [genome.jp]

[…] syndromes Subgroup Chorea-acanthocytosis (ChAc) [DS: H01432 ] McLeod syndrome (MLS) [DS: H00655 ] Huntington's disease-like 2 (HDL2) [DS: H01243 ] Pantothenate kinase associated neurodegeneration [genome.jp]

REM Sleep Behavior Disorder

So far, the number of studies assessing predictive markers of neurodegeneration in RBD is limited. [n.neurology.org]

"Rapid-eye movement sleep behavior disorder is not just a precursor but also a critical warning sign of neurodegeneration that can lead to brain disease," John Peever, associate [universityherald.com]

Neurodegenerative Disorder

All of these conditions lead to progressive brain damage and neurodegeneration. [news-medical.net]

What causes neurodegeneration? [ncbi.nlm.nih.gov]

Treatment There are currently no therapies available to cure neurodegeneration. [news-medical.net]

Progressive Myoclonic Epilepsy Type 8

The patient presented here constitutes a rare case of pediatric epilepsy, which caused neurodegeneration in late-childhood and onset with typical epilepsy symptoms. [eastjmed.org]

Knockdown of Cers1 in mouse neuroblastoma cells triggered endoplasmic reticulum stress, the unfolded protein response, and apoptosis, suggesting a mechanism for neurodegeneration [onlinelibrary.wiley.com]

To our knowledge, this is the shortest period in literature.Keywords: Lafora Disease, progressive myoclonic epilepsy, neurodegeneration Ömer Bektaş, Arzu Yılmaz, Aylin Heper [eastjmed.org]

Neuronal Ceroid Lipofuscinosis

Mutant dnj-14 worms also exhibited age-dependent neurodegeneration of sensory neurons, which was preceded by severe progressive chemosensory defects. [ncbi.nlm.nih.gov]

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration [ncbi.nlm.nih.gov]

KEYWORDS: Cysteine-string protein alpha (CSPα); Neurodegeneration; Neuronal ceroid lipofuscinosis (NCL); Palmitoyl-protein thioesterase 1 (PPT1); Palmitoylation [ncbi.nlm.nih.gov]

Huntington Disease

In this review we consider the current status of research in the field and possible mechanisms whereby the HD mutation might result in neurodegeneration. [ncbi.nlm.nih.gov]

Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408, 101–106 (2000). 16 Marsh, J. L. et al. [doi.org]

CONCLUSION: Our findings indicate the potential of miR-9* in peripheral leukocyte as a signature of neurodegeneration in HD patients. [ncbi.nlm.nih.gov]

Spinocerebellar Ataxia Type 1

The objective of this study is to evaluate neurochemical changes associated with neurodegeneration in cerebral tissue in SCA1 patients compared to age- and gender-matched [ncbi.nlm.nih.gov]

Mutant polyglutamine proteins accumulate in neurons, inducing neurodegeneration, but the mechanism underlying this accumulation has been unclear. [ncbi.nlm.nih.gov]

As neurodegeneration progresses, other brain regions become involved and contribute to cognitive deficits as well as problems with speech, swallowing, and control of breathing [ncbi.nlm.nih.gov]

Gordon-Holmes Syndrome

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. [miami.pure.elsevier.com]

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations [abstract]. [mdsabstracts.org]

KEYWORDS: Ataxia; CHIP; Dementia; Early onset ataxia; Early-onset dementia; Gordon Holmes syndrome; Hypogonadism; Magnetic resonance imaging; Neurodegeneration; Neurodegenerative [ncbi.nlm.nih.gov]

Neonatal Adrenoleukodystrophy

The childhood form of the disease is quite devastating as the primary damage is of the form of a progressive neurodegeneration with symptoms that expand from mild to severe [ald.org.nz]

This form of ALD usually progresses rapidly, causes neurodegeneration, and results in death in infancy or young childhood. [simplygoodnaturalfoods.com]

Menkes Disease

These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. [ncbi.nlm.nih.gov]

Currently, no therapy effectively arrests the relentless neurodegeneration of Menkes' disease. [ncbi.nlm.nih.gov]

Patients also display severe neurodegeneration linked to copper deficiency in the brain. [onlinelibrary.wiley.com]

Prion Disease

To investigate the involvement of GPI-PLD in the processes of neurodegeneration in prion diseases, we examined the mRNA and protein expression levels of GPI-PLD in the brains [ncbi.nlm.nih.gov]

However, despite considerable research effort, the molecular mechanisms underlying prion-induced neurodegeneration are poorly understood. [ncbi.nlm.nih.gov]

It is therefore expected that some of these prion-modifier genes may be of wider relevance in neurodegeneration. © The Author 2014. Published by Oxford University Press. [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 43

Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain [spatax.wordpress.com]

SNP ID Clin Chr 19 pos Sequence Context AA Info Type rs200133991 Likely pathogenic, Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] 29,708,290(+) ACCCC [genecards.org]

Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA [experts.umich.edu]

Cerebral Cortical Atrophy

Etiology Etiology of MSA is unknown but presence of cytoplasmic aggregates of α-synuclein, primarily in oligodendroglia, in combination with neurodegeneration in striatonigral [orpha.net]

In Alzheimer’s Disease, neurons will stop working or die in a process called neurodegeneration. [en.wikipedia.org]

Shifting imaging targets in multiple sclerosis: from inflammation to neurodegeneration. [smw.ch]

Classic Progressive Supranuclear Palsy Syndrome

The factors that initiate tau-neurodegeneration are unknown. Diagnostic methods Diagnosis is based on the clinical picture and neuropsychological evaluation. [orpha.net]

ADan Amyloidosis

Fecha de publicación: 01 - 2014 Editorial: Biomed Central Revista: Molecular Neurodegeneration Idioma: Inglés Citación: Marcora, Maria Silvina; Fernandez Gamba, Agata Claudia [ri.conicet.gov.ar]

[…] are likely to play a strong future role in increasing our understanding of the causes of small vessel disease and the potential link between cerebrovascular disease and neurodegeneration [books.google.com]

[…] et al.; Amyloid peptides ABri and ADan show differential neurotoxicity in transgenic Drosophila models of familial British and Danish dementia; Biomed Central; Molecular Neurodegeneration [ri.conicet.gov.ar]

Autosomal Recessive Spastic Paraplegia Type 35

a neurodegeneration with brain iron accumulation (NBIA) syndrome. [mdsabstracts.org]

All these conditions belong to a class of disorders called neurodegeneration with brain iron accumulation (NBIA). https://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegeneration [ncbi.nlm.nih.gov]

Acronym SPG35 Synonyms FAHN Fatty acid hydroxylase-associated neurodegeneration Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia Keywords Any [uniprot.org]

Niemann-Pick Disease

Oral administration of SAHA prevents oxidative stress and neurodegeneration, and improves behavioral performance in ASMko mice. [ncbi.nlm.nih.gov]

Patients with type A NPD exhibit neurodegeneration beginning at three months of age and death by three years of age. [symptoma.com]

Hepatic NPC1 re-expression did not ameliorate the onset and progression of neurodegeneration of the NPC1-null animal. [ncbi.nlm.nih.gov]

Autosomal Dominant Spastic Paraplegia Type 42

Figure 2 Reducing Dspastin expression produces age-dependent neurodegeneration. ( A ) One-day-old fly with transgenic expression of Dspastin RNAi showed no sign of neurodegeneration [jci.org]

(-) TTCAG(G/T)TTTGT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime rs281875283 Pathogenic, Congenital cataracts, hearing loss, and neurodegeneration [genecards.org]

Defects in SLC33A1 are the cause of congenital cataracts, hearing loss, and neurodegeneration (CCHLND). [mybiosource.com]

Adult-Onset Dystonia - Parkinsonism

The substantia nigra and the locus coeruleus selectively undergo neurodegeneration without forming Lewy bodies. [journals.lww.com]

See, also, the description of neurodegeneration with brain iron accumulation ( FBhh0000223 ). [flybase.org]

In this review, we present current and emerging PD candidate genes to help explain the pathways leading to neurodegeneration. [dovepress.com]

Dentatorubral-Pallidoluysian Atrophy

It has been discussed in Huntington's disease that expanded polyglutamine can lead to oxidative neurodegeneration. [ncbi.nlm.nih.gov]

Youdim Springer Science & Business Media, 06.12.2012 - 216 Seiten We organized the Seventh International Winter Conference on Neurodegeneration and Neuroinflammation in a [books.google.de]

We attempted to quantify global and region-specific neurodegeneration in DRPLA using analysis of apparent diffusion coefficient (ADC) maps. [ncbi.nlm.nih.gov]

Autosomal Recessive Spinocerebellar Ataxia Type 17

[…] clinical outcome measures for future studies, and 4) acquire and perform preliminary analyses of data that may advance our understanding of the progression of retinal and neurodegeneration [clinicaltrials.gov]

(HALLERVORDEN-SPATZ SYNDROME): Pantothenate kinase 2, gene (PANK2); NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, TYPE 2 (NBIA2A): Phospholipase A2, group VI (cytosolic [cnr.it]

[…] clinical outcome measures for future studies and 2) the acquisition and preliminary analysis of data that may advance our understanding of the progression of retinal and neurodegeneration [clinicaltrials.gov]