Progressive Neurodegeneration: Causes & Reasons

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Possible Causes for Progressive Neurodegeneration

Perinatal Lethal Gaucher Disease

neurodegeneration. [mendelian.co]

Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. [medworm.com]

While each has unique features, the common and predominant feature is progressive neurodegeneration and premature death. [ncbi.nlm.nih.gov]

Gaucher Disease Type 2

Due to these abnormalities in cell physiology, the individuals affected by types C and D begin to experience progressive neurodegeneration typically at the age of two. [embryo.asu.edu]

[…] key future directions for research on neuronal injury and neurodegeneration relevant to neuronal brain pathologies. [link.springer.com]

While each has unique features, the common and predominant feature is progressive neurodegeneration and premature death. [ncbi.nlm.nih.gov]

Lafora Disease

Lafora disease is a lethal disorder of adolescence, characterize by progressive myoclonus epilepsy and neurodegeneration, which is driven by its pathological hallmark, the [cib.csic.es]

Abstract Laforin is a dual specificity protein phosphatase involved in Lafora disease (LD), a fatal form of progressive myoclonus epilepsy characterized by neurodegeneration [ncbi.nlm.nih.gov]

Abstract Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years followed by neurodegeneration and death within 10 years. [ncbi.nlm.nih.gov]

Revesz Syndrome

Progressive dementia occurs in atypical pantothenate kinase–associated neurodegeneration. [nejm.org]

Introduction An intriguing progressive neurological disorder at the crossroads of autoimmunity and neurodegeneration was recently described in eight patients affected by a [link.springer.com]

We observed that classic pantothenate kinase–associated neurodegeneration progressed at a nonuniform rate, with periods of marked deterioration, often lasting one to two months [nejm.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. [simplygoodnaturalfoods.com]

Mucopolysaccharidosis Type 1 H

Mucopolysaccharidosis type 1H (MPS1H), also known as Hurler syndrome, Hurler's disease or gargoylism, is the most severe form of mucopolysaccharidosis type 1. MPS1H presents as a multisystem disorder in the early childhood. Most important manifestation is developmental delay which becomes evident by the end of first[…] [symptoma.com]

Niemann-Pick Disease

Type A NPD is a fatal disorder in young children characterized by failure to thrive, hepatosplenomegaly and progressive neurodegeneration resulting in death by age three. [symptoma.com]

The disease is characterized by hepatosplenomegaly, failure to thrive, and rapidly progressive neurodegeneration. Death occurs by age 2 or 3 yr. [merckmanuals.com]

neurodegeneration and premature death. [dmm.biologists.org]

Neurodegeneration with Brain Iron Accumulation

Based on the age of onset and rate of progression, individuals with PKAN may be classified as having classic or atypical forms… PLAN PLAN (PLA2G6-associated neurodegeneration [nbiacure.org]

Clinical description NBIA can present as early onset with rapid progression: classic pantothenate kinase-associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy [orpha.net]

Abstract Aceruloplasminemia is characterized by progressive neurodegeneration with brain iron accumulation due to the complete lack of ceruloplasmin ferroxidase activity caused [doi.org]

Hallervorden-Spatz Syndrome

Inherited loss of the protein causes aceruloplasminemia, which is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia [eurekaselect.com]

Louis, USA Search for other works by this author on: J D Gitlin ABSTRACT Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration [ajcn.nutrition.org]

neurodegeneration with the tremors and gait abnormalities characteristic of Parkinson disease. [medicinenet.com]

Menkes Disease

Menkes disease is an X-linked genetic disorder of copper transport that results in death from severe progressive neurodegeneration by the age of 3 years. [ncbi.nlm.nih.gov]

Following progressive neurodegeneration, death occurred at 3 years of age. The prognosis in Menkes disease is dependent on early copper-histidine therapy. [ncbi.nlm.nih.gov]

Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. [ncbi.nlm.nih.gov]

Mitochondrial Membrane Protein-Associated Neurodegeneration

Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain. [checkorphan.org]

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. Clin Genet. 2013 Oct;84(4):350-5. doi: 10.1111/cge.12079. [ghr.nlm.nih.gov]

Background: Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is characterized by progressive dystonia, spasticity, paraparesis or tetraparesis, optic atrophy [ohsu.edu]

X-linked Distal Spinal Muscular Atrophy Type 3

MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation [abcam.com]

neurodegeneration - blindness - ataxia - spasticity 46,XY partial gonadal dysgenesis Acute myeloblastic leukemia with maturation Acute myeloblastic leukemia without maturation [csbg.cnb.csic.es]

[…] lymphocytopenia Autosomal dominant nonsyndromic sensorineural deafness type DFNA Leber congenital amaurosis Senior-Loken syndrome Spinocerebellar ataxia type 36 Early-onset progressive [csbg.cnb.csic.es]

Tay-Sachs Disease

This causes progressive neurodegeneration and developmental delay. [patient.info]

Neuronal Ceroid Lipofuscinosis Type 4B

neurodegeneration, loss of vision, and a fatal course; the infantile type is Haltia… … Medical dictionary Neuronal ceroid lipofuscinosis — Classification and external resources [medicine.academic.ru]

neurodegeneration. [publikationen.ub.uni-frankfurt.de]

[…] our preliminary results show that Cystagon slows the progression of neurodegeneration, we feel that a combination of Cystagon plus N-Ac with its anti-apoptotic and neuro-protective [clinicaltrials.gov]

Neurodegenerative Disorder

In addition, it is the progressive neurodegeneration which determines the amount of accumulating clinical disability. [ncbi.nlm.nih.gov]

neurodegeneration over many years. [ncbi.nlm.nih.gov]

Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death [orpha.net]

COASY Protein-Associated Neurodegeneration

(CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. [malacards.org]

Orpha Number: 397725 Disease definition COASY protein -associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation [rarediseases.info.nih.gov]

PKAN (pantothenate kinase-associated neurodegeneration), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common [moh-it.pure.elsevier.com]

Beta-Propeller Protein-Associated Neurodegeneration

A female patient presented with significant developmental delay in early childhood and subsequently demonstrated neurodegeneration with progressive dystonia and dementia in [ncbi.nlm.nih.gov]

Life in the Lab I work on a very rare condition called “Beta propeller A protein associated Neurodegeneration” (BPAN). [thepatanilab.com]

[…] followed by delayed progressive motor and cognitive deterioration with an onset in the second to third decade. [ncbi.nlm.nih.gov]

Ataxia Telangiectasia

Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. [ncbi.nlm.nih.gov]

The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. [ncbi.nlm.nih.gov]

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by progressive neurodegeneration, immunodeficiency, susceptibility to cancer, genomic instability [ncbi.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 7

Intellectual deterioration Progressive cognitive decline [ more ] 0001268 Neurodegeneration Ongoing loss of nerve cells 0002180 Optic atrophy 0000648 Pigmentary retinopathy [rarediseases.info.nih.gov]

0000580 Rapidly progressive Worsening quickly 0003678 Retinopathy Noninflammatory retina disease 0000488 Sleep disturbance Difficulty sleeping Trouble sleeping [ more ] 0002360 [rarediseases.info.nih.gov]

0002123 Global developmental delay 0001263 Juvenile onset Signs and symptoms begin before 15 years of age 0003621 Mental deterioration Cognitive decline Cognitive decline, progressive [rarediseases.info.nih.gov]

Isolated Succinate-CoQ Reductase Deficiency

[…] polyneuropathy) ( Angelini et al 1993 ; Sonam et al 2014 ; Alston et al 2015 ; Courage et al 2017 ), and late-onset progressive neurodegeneration ( Taylor et al 1996 ). [medlink.com]

The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon [studyres.com]

[…] syndrome ( Micheletti et al 2011 ), cardiomyopathy with variable associated neurologic manifestations (psychiatric abnormalities, optic atrophy, oculomotor abnormalities, progressive [medlink.com]

Maple Syrup Urine Disease Mild Variant

Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. [genecards.org]

neurodegeneration in an affected patient. [patient.info]

If left untreated, the accumulation of the amino acids and their keto acids leads to serious complications, including encephalopathy and progressive neurodegeneration. [cags.org.ae]

Niemann-Pick Disease Type B

The disease is characterized by hepatosplenomegaly, failure to thrive, and rapidly progressive neurodegeneration. Death occurs by age 2 or 3 yr. [merckmanuals.com]

NPC is a disease characterized by fatal progressive neurodegeneration. [themedicalbiochemistrypage.org]

Due to these abnormalities in cell physiology, the individuals affected by types C and D begin to experience progressive neurodegeneration typically at the age of two. [embryo.asu.edu]

Classic Maple Syrup Urine Disease

Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. [uniprot.org]

neurodegeneration in an affected patient. [patient.info]

If left untreated, the accumulation of the amino acids and their keto acids leads to serious complications, including encephalopathy and progressive neurodegeneration. [cags.org.ae]

Juvenile Tay-Sachs Disease

The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon [ncbi.nlm.nih.gov]

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. [rarediseases.org]

Adrenoleukodystrophy

CASE REPORTS | CASOS CLÍNICOS Dark skin - constitutional or pathological? A X-linked Adrenoleukodystrophy case report Pele escura – constitucional ou patológica? Um caso clinico de Adrenoleucodistrofia ligada ao X Clara PretoI; José Eduardo AlvesII; Marcelo FonsecaIII; Manuela Santos; Natalina MiguelI I Department of[…] [scielo.mec.pt]

Mucopolysaccharidosis Type 3B

Mitochondrial Complex 3 Deficiency Nuclear Type 2

1. Al-Herz W, Bousfiha AA, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2(54):1–26. [Article PMC gratuit] [PubMed][…] [ncbi.nlm.nih.gov]

Mitochondrial DNA Depletion Syndrome Type 8

Case Reports Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder A Bardosi et al. Acta Neuropathol. 1987. Abstract A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in[…] [pubmed.ncbi.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 5

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death [radiopaedia.org]

While each has unique features, the common and predominant feature is progressive neurodegeneration and premature death. [ncbi.nlm.nih.gov]

Deficiency of Ceruloplasmin

The lack of ceruloplasmin ferroxidase activity leads to parenchymal and reticuloendothelial iron overload, resulting in diabetes and progressive neurodegeneration with extrapyramidal [moh-it.pure.elsevier.com]

Inherited loss of the protein causes aceruloplasminemia, which is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia [eurekaselect.com]

neurodegeneration of the retina and basal ganglia and diabetes mellitus. [checkorphan.org]