Possible Causes for progressive neurodegeneration 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] 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] While each has unique features, the common and predominant feature is progressive neurodegeneration and premature death. [ncbi.nlm.nih.gov] […] key future directions for research on neuronal injury and neurodegeneration relevant to neuronal brain pathologies. [link.springer.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] 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. [healthprioritiesinc.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] Niemann-Pick Disease The disease is characterized by hepatosplenomegaly, failure to thrive, and rapidly progressive neurodegeneration. Death occurs by age 2 or 3 yr. [msdmanuals.com] neurodegeneration. [ncbi.nlm.nih.gov] […] mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive [ncbi.nlm.nih.gov] Pallidopyramidal Syndrome CONCLUSIONS:: We conclusively show that recessive FBXO7 mutations cause progressive neurodegeneration with extrapyramidal and pyramidal system involvement, delineating a novel [moh-it.pure.elsevier.com] Conclusions: We conclusively show that recessive FBXO7 mutations cause progressive neurodegeneration with extrapyramidal and pyramidal system involvement, delineating a novel [n.neurology.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] 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] 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] 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] 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] Neurodegenerative Disorder neurodegeneration over many years. [ncbi.nlm.nih.gov] In addition, it is the progressive neurodegeneration which determines the amount of accumulating clinical disability. [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] Periodontitis Since the 1990s, it has been proposed that the brain innate immune response plays an important role in the development and progression of the neurodegeneration in AD ( McGeer [doi.org] Since the 1990s, it has been proposed that the brain innate immune response plays an important role in the development and progression of the neurodegeneration in AD (McGeer [ncbi.nlm.nih.gov] The peripheral systemic inflammation may contribute not only to aggravate the progression of neurodegeneration in AD, but could also play a fundamental role in the development [doi.org] Hay Fever Systemic LPS causes chronic neuroinflammation and progressive neurodegeneration. Glia. 2007;55(5):453-462. PubMed Google Scholar Crossref 43. [dx.doi.org] Tay-Sachs Disease This causes progressive neurodegeneration and developmental delay. [patient.info] GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Dev Med Child Neurol. 2012;54:176-182. [web.archive.org] Mitochondrial Membrane Protein-Associated Neurodegeneration 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] Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain. [checkorphan.org] Allergic Rhinitis Systemic LPS causes chronic neuroinflammation and progressive neurodegeneration. Glia. 2007;55(5):453-462. PubMed Google Scholar Crossref 43. [dx.doi.org] Alzheimer Disease Although immunisation with Abeta(42) resulted in clearance of amyloid plaques in patients with Alzheimer's disease, this clearance did not prevent progressive neurodegeneration [ncbi.nlm.nih.gov] the toxic tau, which forces an affected neuron in a long and losing battle resulting in a slow but progressive retrograde neurodegeneration. [ncbi.nlm.nih.gov] Impairments in behavior and decline in daily living activities become more apparent as the neurodegeneration progresses. [web.archive.org] Neurotic Disorder Mild and progressive neurologic findings may occur in NPD type B; however, progressive neurodegeneration is limited to NPD type A. [emedicine.medscape.com] Benign Prostatic Hyperplasia Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. Clin Immunol. 2002. 102:19-24. [Medline]. [emedicine.medscape.com] A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IBIG therapy. Mov Disord. 2007. 22:1664-6. [Medline]. [emedicine.medscape.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] Orthostatic Hypotension Patients typically present in middle age with slowly progressive neurogenic OH, without additional symptoms of central neurodegeneration. [onlinejacc.org] Neuronal Ceroid Lipofuscinosis The resulting depletion of functional CSPα might cause in parallel the presynaptic dysfunction and the progressive neurodegeneration observed in affected individuals and lysosomal [ncbi.nlm.nih.gov] neurodegeneration. [centerwatch.com] […] of Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease, CLN3) is a recessive, fatal, lysosomal storage disease that results in progressive [centerwatch.com] Delirium Qin L, Wu X, Block ML et al (2007) Systemic LPS causes chronic neuroinflammation and progressive neurodegeneration. [doi.org] Worsening cognitive impairment and neurodegenerative pathology progressively increase risk for delirium. Am J Geriatr Psychiatry. 2015;23(4):403-415. [doi.org] Systemic challenge with the TLR3 agonist poly I:C induces amplified IFNα/β and IL-1β responses in the diseased brain and exacerbates chronic neurodegeneration. [doi.org] Polyneuropathy This mitochondrial change also contributes to neurodegeneration and aging of the mucosa. [dovepress.com] This is further supported by evidence of mitochondrial damage similar to progressive muscular dystrophy in pharyngeal muscles of mice with iron deficiency anemia. [dovepress.com] Klebsiella Progressive supranuclear palsy - Striatonigral degeneration Dystonia/Dyskinesia (Spasmodic torticollis, Meige's, Blepharospasm) Essential tremor - Myoclonus - Lafora Chorea [wikidoc.org] PBP, PP, PLS) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration [wikidoc.org] Maple Syrup Urine Disease Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. [malacards.org] Left untreated, progressive neurodegeneration can lead to coma and death within the first months of life. [wohproject.org] neurodegeneration in an affected patient. [patient.info] Wolfram Syndrome Wolfram Syndrome is caused by a single gene mutation, and results in early onset diabetes and progressive neurodegeneration. [birmingham.ac.uk] Due to the progressive neurodegeneration of the disease, the median age at death is 30 years, usually from respiratory failure as a result of brain stem atrophy. [beyondtype1.org] In patients with Wolfram syndrome, these mechanisms underlie progressive neurodegeneration and endocrine dysfunction. [care.diabetesjournals.org]
