Neurodegeneration: Causes & Reasons

Possible Causes for Neurodegeneration

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]

[…] 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]

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 [n.neurology.org]

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]

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]

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]

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]

Parkinson Disease

In this review, we address the current concept of neuroinflammation and its involvement in PD-associated neurodegeneration. [ncbi.nlm.nih.gov]

However, 5-10% of PD cases are inherited as monogenic diseases, which provides a chance to understand the molecular mechanisms underlying neurodegeneration. [ncbi.nlm.nih.gov]

Open Access Review 1 Department of Biological Sciences, The University of Alabama, Tuscaloosa, AL 35487, USA 2 Departments of Neurology and Neurobiology, Center for Neurodegeneration [doi.org]

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]

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]

Alzheimer Disease

Furthermore, in DLB, Aβ 1–42 may promote α-synuclein accumulation and neurodegeneration. [doi.org]

A. (2003) Alpha-synuclein overexpression protects against paraquat-induced neurodegeneration. J. Neurosci. 23, 3095–3099. [doi.org]

Progressive Myoclonic Epilepsy Type 8

Keywords: Lafora Disease, progressive myoclonic epilepsy, neurodegeneration Ömer Bektaş, Arzu Yılmaz, Aylin Heper Okcu, Serap Teber, Erhan Aksoy, Gülhis Deda. [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]

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]

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]

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. Google Scholar ]. [jns-journal.com]

Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration. [ijri.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]

Thus, we sought to determine whether this pathway of apoptosis contributes to rapid neurodegeneration in INCL. [doi.org]

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]

McLeod Neuroacanthocytosis Syndrome

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

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

[…] 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]

Progressive Myoclonic Epilepsy Type 7

Ataxia-telangiectasia-like disorder Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Atypical juvenile parkinsonism Atypical pantothenate kinase-associated neurodegeneration [se-atlas.de]

Despite increasing knowledge of the etiology of most progressive myoclonus epilepsy disorders, the pathogenic mechanisms leading to neurodegeneration and epilepsy remain largely [medlink.com]

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

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]

Regulation of autophagy by polyphenols: Paving the road for treatment of neurodegeneration. Biotechnology Advances, Vol. 36, Issue. 6, p. 1768. [oadoi.org]

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]

Amyotrophic Lateral Sclerosis

Here we review some of the recent progress in promoting therapeutic strategies for neurodegeneration. [doi.org]

This review aims to investigate how oxidative stress can affect other proposed mechanisms of neurodegeneration in ALS. [ncbi.nlm.nih.gov]

Strategies for clinical approach to neurodegeneration in amyotrophic lateral sclerosis Cecilia Carlesi, Livia Pasquali, Selina Piazza, Annalisa Lo Gerfo, Elena Caldarazzo [doi.org]

Huntington Disease-Like Type 3

Basal ganglia Caudate Huntington's disease Inclusion Junctophilin Neurodegeneration Striatum Trinuleotide repeat expansion Clinical Neurology Psychiatry and Mental health [jhu.pure.elsevier.com]

PKAN is also referred to as Hallervorden-Spatz syndrome or neurodegeneration with brain iron type 1 (NBIA1). Onset occurs in childhood. [hdlf.org]

KW - Basal ganglia KW - Caudate KW - Huntington's disease KW - Inclusion KW - Junctophilin KW - Neurodegeneration KW - Striatum KW - Trinuleotide repeat expansion UR - http [jhu.pure.elsevier.com]

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]

Progressive Supranuclear Palsy

Neurodegeneration: the molecular pathology of dementia and movement disorders. Basel : ISN Neuropath Press ; 2003. p. 103 – 14. 5. [doi.org]

CurePSP CurePSP is the leading source of information and support for patients and their families, other caregivers, researchers, and healthcare professionals on prime of life neurodegeneration [psp.org]

Clinical and neuropathological correlations in atypical neurodegenerations are crucial to describe new entities of overlapping syndromes. [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]

Keywords Neurodegeneration Polyglutamine Therapeutic approaches References 1. [doi.org]

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]

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]

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

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

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. [healthinhandorganics.com]

Ataxia Telangiectasia

Our results define a crucial role of the cellular localization of HDAC4 in the events leading to ataxia telangiectasia neurodegeneration. [ncbi.nlm.nih.gov]

The symptoms of ataxia-telangiectasia (A-T) include a progressive neurodegeneration caused by ATM protein deficiency. [ncbi.nlm.nih.gov]

Class IIA HDACs in the regulation of neurodegeneration. Front. Biosci. 13, 1072–1082 (2008). 10. Yang, X.J. & Seto, E. [doi.org]

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]

Muscular Dystrophy-Dystroglycanopathy Type C7

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Methylmalonic Acidemia Muscular Dystrophy Myasthenic Syndrome Myopathy Myotonia Congenita Neuroaxonal Dystrophy Neurodegeneration [preventiongenetics.com]

Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721 601047 Autosomal dominant CAV3 3p25.3 Creatine phosphokinase, elevated serum 123320 601253 [mnglabs.com]

Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721 601047 Autosomal dominant CAV3 3p25.3 Myopathy, distal, Tateyama type 614321 601253 Autosomal [mnglabs.com]

Niemann-Pick Disease

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

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

Mutation that increases sphingolipid levels can lead to neurodegeneration A mutation that increases the level of a special class of sphingolipids--molecules important to cell [news-medical.net]