Progressive Neurodegeneration: Causes & Reasons

Possible Causes for Progressive Neurodegeneration

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

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]

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]

Description The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 3B

Progressive neurodegeneration can result in gait disorders, hyperactive reflexes, or spasticity. Development and cognition. [ncbi.nlm.nih.gov]

Behavior becomes less problematic with age due to decreased mobility and initiative resulting from progressive neurodegeneration. [ncbi.nlm.nih.gov]

With progression of neurodegeneration, many affected individuals develop dysphagia and/or problems with chewing and swallowing food, increasing risks for aspiration pneumonia [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]

Mucopolysaccharidosis Type 1 H

Diese Präsentation wurde erfolgreich gemeldet. Nächste SlideShare Wird geladen in […] 5 × ... Veröffentlicht am 8. Okt. 2008 0 Kommentare 5 Gefällt mir Statistik Notizen Aufrufe Aufrufe insgesamt 3.212 Auf SlideShare 0 Aus Einbettungen 0 Anzahl an Einbettungen 6 Aktionen Geteilt 0 Downloads 85 Kommentare 0 Gefällt mir[…] [de.slideshare.net]

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]

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]

Table 1 NBIA disorders Classic form: Early onset – rapid progression Pantothenate kinase-associated neurodegeneration (PKAN) PANK2 autosomal recessive Gait abnormality, dystonia [ojrd.biomedcentral.com]

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]

Mitochondrial Membrane Protein-Associated Neurodegeneration

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

Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive [ncbi.nlm.nih.gov]

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]

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]

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

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

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]

Wikipedia ceroid-lipofuscinosis — neuronal ceroid lipofuscinosis a term for several genetic lipidoses of diverse biochemical and clinical characteristics, all characterized by progressive [medicine.academic.ru]

X-linked Distal Spinal Muscular Atrophy Type 3

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

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

[…] 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]

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]

Cerebral Lipidosis

neurodegeneration. [karger.com]

8063 (Online) For additional information: https://www.karger.com/PHG Abstract Objective: To study the prevalence and clinical profile of cerebral lipidoses in patients with progressive [karger.com]

Article / Publication Details First-Page Preview Abstract Objective: To study the prevalence and clinical profile of cerebral lipidoses in patients with progressive neurodegeneration [karger.com]

Ataxia-Telangiectasia Syndrome

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]

Spinocerebellar Ataxia Type 1

These data demonstrate that presymptomatic and progressive neurodegeneration in SCA1 can be noninvasively monitored using MRS. [ncbi.nlm.nih.gov]

neurodegeneration in cerebellar Purkinje cells and brainstem nuclei. [ncbi.nlm.nih.gov]

We have previously demonstrated the sensitivity of neurochemical levels measured by (1) H magnetic resonance spectroscopy (MRS) to progressive neurodegeneration using a transgenic [ncbi.nlm.nih.gov]

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]

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]

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]

Tay-Sachs Disease

Other manifestations of this condition include progressive neurodegeneration, seizures, and blindness leading to total incapacitation and death. [mayomedicallaboratories.com]

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

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

Adult Neuronal Ceroid Lipofuscinosis

widespread neurodegeneration and intra-neuronal accumulation of autofluorescent lipopigments. [jnnp.bmj.com]

The ceroid accumulation primarily affects the brain, leading to neuronal loss and progressive neurodegeneration. [pubmed.ncbi.nlm.nih.gov]

DISEASE) Abstract Summary Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited lysosomal storage disorders – most commonly occurring in childhood – characterized by progressive [jnnp.bmj.com]

Adrenoleukodystrophy

Last revised by Joshua Yap ◉ on 13 Sep 2022 Citation, DOI, disclosures and article data Citation: Weerakkody Y, Yap J, Shrestha B, et al. X-linked adrenoleukodystrophy. Reference article, Radiopaedia.org (Accessed on 28 Mar 2023) https://doi.org/10.53347/rID-10259 X-linked adrenoleukodystrophy is an inherited[…] [radiopaedia.org]

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

@article{Bardosi2004MyoNG, title={Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase}, author={A. Bardosi and W. Creutzfeldt and S. Dimauro and K. Felgenhauer and R. Friede and H. Goebel and A. Kohlsch{\"u}tter and G. Mayer and G. Rahlf and S. Servidei[…] [semanticscholar.org]

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]

GM1 Gangliosidosis

Reduced β-gal activity results in the accumulation of GM1 gangliosides, causing rapidly progressive neurodegeneration, as well as progressive damage to other tissues including [checkrare.com]

This enzyme mutation results in an accumulation of GM1-ganglioside which leads to progressive neurodegeneration. [empr.com]

They display developmental delays by 12 months of age as well as rapidly progressive neurodegeneration. What is GM1 gangliosidosis Type II? [lysogene.com]

Juvenile GM2-Gangliosidosis

The omnipresent accumulation of GM2 gangliosides/MCBs in neuronal cells leads to progressive neurodegeneration. [emedicine.medscape.com]

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Develop. Med. Child Neurol. 2012;54:176–182. [ncbi.nlm.nih.gov]

The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. [bmcmedgenet.biomedcentral.com]

Gangliosidosis

All gangliosidoses are characterized by progressive neurodegeneration, the severity of which is proportional to the residual enzyme activity. [mayoclinic.pure.elsevier.com]

Reduced -gal activity results in the accumulation of toxic levels of GM1 ganglioside in neurons throughout the brain, causing rapidly progressing neurodegeneration. [passagebio.com]

Reduced β-gal activity results in the accumulation of toxic levels of GM1 ganglioside in neurons throughout the brain, causing rapidly progressing neurodegeneration. [biospace.com]