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

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]

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

Description Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so[…] [medlineplus.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]

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]

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]

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]

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]

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]

Subjects and Methods: A total of 771 patients clinically diagnosed with a progressive neurodegenerative disease were investigated for lipidoses. [karger.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]

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

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]

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]

Adrenoleukodystrophy

Last revised by Joshua Yap ◉ on 13 Sep 2022 Citation, DOI & article data Citation: Weerakkody Y, Yap J, Shrestha B, et al. X-linked adrenoleukodystrophy. Reference article, Radiopaedia.org (Accessed on 05 Dec 2022) https://doi.org/10.53347/rID-10259 X-linked adrenoleukodystrophy is an inherited metabolic peroxisomal[…] [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

Mitochondrial Neurogastrointestinal Encephalopathy NORD gratefully acknowledges Michio Hirano, MD, Professor of Neurology, Columbia University Medical Center, for assistance in the preparation of this report. Synonyms of Mitochondrial Neurogastrointestinal Encephalopathy MEPOP MNGIE MNGIE syndrome muscular dystrophy,[…] [rarediseases.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]

Autosomal Dominant Mild Xeroderma Pigmentosum

Neurologic (Nerve) Effects Approximately 25% of patients with XP develop progressive neurodegeneration. [rarediseases.org]

The degeneration can vary in time of onset and rate of progression. [rarediseases.org]

Symptoms of neurodegeneration include: acquired microcephaly (a condition marked by smaller head size and structural changes in the brain), diminishing (or absent) deep tendon [rarediseases.org]

Creutzfeldt-Jakob Disease Heidenhain Variant

[…] fatal neurodegeneration. [dovepress.com]

[…] and invariably fatal neurodegeneration. [dovepress.com]

Eighty-five percent of cases occur as sporadic Creutzfeldt-Jakob disease (sCJD).1 The classical presentation of sCJD is of a rapidly progressive dementia with myoclonus and [dovepress.com]

Autosomal Recessive Osteopetrosis Type 8

neurodegeneration, which is not cured by HSCT. [rarediseases.org]

They are often rapidly progressive and as they generally carry a poor prognosis the finding of CNS involvement may constitute a contraindication to BMT. [adc.bmj.com]

[…] transplant (those in the RANKL gene); moreover, some patients (all those with mutations in the OSTM1 gene and some of those with two mutations in the CLCN7 gene) develop progressive [rarediseases.org]

Infantile Malignant Osteopetrosis

neurodegeneration, which is not cured by HSCT. [rarediseases.org]

Without early treatment with daily subcutaneous copper injections (and sometimes despite treatment), classic Menkes disease progresses to severe neurodegeneration and death [ncbi.nlm.nih.gov]

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]

Gangliosidosis

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

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

Singh-Chhaparwal-Dhanda Syndrome

Papilledema, Papilloedema, Paraneoplastic cerebellar degeneration, Peripheral type neurofibromatosis, Photopsia, Posterior column ataxia, Progressive supranuclear palsy, [wikidoc.org]

PLA2G6-associated neurodegeneration GARD:0012583 ! Progressive muscular dystrophy Orphanet:206644 ! Progressive muscular dystrophy GARD:0012645 ! [github.com]

[…] with brain iron accumulation, Ornithine translocase deficiency, Posterior leucoencephalopathy syndrome, Progressive multifocal leukoencephalopathy, Sickle cell anemia, Subacute [wikidoc.org]

GM2-Gangliosidosis Types B - B1 - Ab

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

[…] six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years [rarediseases.info.nih.gov]

After age 8-10 months, deterioration is rapid as neurodegeneration progresses. Macrocephaly due to reactive cerebral gliosis typically begins at age 18 months. [emedicine.medscape.com]