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Page 1
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Lange LM, et al. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. Mov Disord. 2022. PMID: 35481685 Review.
In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic condition …
In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brai …
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG. Salomão RP, et al. Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Arq Neuropsiquiatr. 2016. PMID: 27487380 Free article. Review.
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. ...The forms of N …
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited …
Ageing, neuroinflammation and neurodegeneration.
Ward RJ, Dexter DT, Crichton RR. Ward RJ, et al. Front Biosci (Schol Ed). 2015 Jun 1;7(1):189-204. doi: 10.2741/S433. Front Biosci (Schol Ed). 2015. PMID: 25961695 Free article. Review.
In neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, changes in local iron homoeostasis result in altered cellular iron distribution and accumulation, ultimately inducing neurotoxicity. The use of iron chela …
In neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, changes in local iron homoeostasis …
Pathogenic mechanism and modeling of neuroferritinopathy.
Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S. Cozzi A, et al. Cell Mol Life Sci. 2021 Apr;78(7):3355-3367. doi: 10.1007/s00018-020-03747-w. Epub 2021 Jan 13. Cell Mol Life Sci. 2021. PMID: 33439270 Review.
Neuroferritinopathy is a rare autosomal dominant inherited movement disorder caused by alteration of the L-ferritin gene that results in the production of a ferritin molecule that is unable to properly manage iron, leading to the presence of free redox-active iron i …
Neuroferritinopathy is a rare autosomal dominant inherited movement disorder caused by alteration of the L-ferritin gene that results in the …
Role of metals in Alzheimer's disease.
Das N, Raymick J, Sarkar S. Das N, et al. Metab Brain Dis. 2021 Oct;36(7):1627-1639. doi: 10.1007/s11011-021-00765-w. Epub 2021 Jul 27. Metab Brain Dis. 2021. PMID: 34313926 Review.
Thus, exploration of metal biology in relation to neurodegenerative pathology is essential in pursuing novel therapies for Alzheimer's Disease and other neurodegenerative disorders. This review covers mechanisms of action of aluminum, iron, copper, and zinc ions wit …
Thus, exploration of metal biology in relation to neurodegenerative pathology is essential in pursuing novel therapies for Alzheimer's …
Brain iron transport and neurodegeneration.
Qian ZM, Shen X. Qian ZM, et al. Trends Mol Med. 2001 Mar;7(3):103-8. doi: 10.1016/s1471-4914(00)01910-9. Trends Mol Med. 2001. PMID: 11286780 Review.
Also, it is not clear whether iron accumulation in the brain is an initial event that causes neuronal death or is a consequence of the disease process. Here, we propose that iron and iron-induced oxidative stress constitute a common mechanism th …
Also, it is not clear whether iron accumulation in the brain is an initial event that causes neuronal death or is a con …
Rare causes of dystonia parkinsonism.
Schneider SA, Bhatia KP. Schneider SA, et al. Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0. Curr Neurol Neurosci Rep. 2010. PMID: 20694531 Review.
Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia- …
Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa- …
Insights into the pathogenesis of multiple system atrophy: focus on glial cytoplasmic inclusions.
Kaji S, Maki T, Ishimoto T, Yamakado H, Takahashi R. Kaji S, et al. Transl Neurodegener. 2020 Feb 17;9:7. doi: 10.1186/s40035-020-0185-5. eCollection 2020. Transl Neurodegener. 2020. PMID: 32095235 Free PMC article. Review.
The disease severity warrants urgent development of disease-modifying therapy, but the disease pathogenesis is still enigmatic. Neurodegeneration in MSA brains is preceded by the emergence of glial cytoplasmic inclusions (GCIs), which are insoluble alpha-synuclein …
The disease severity warrants urgent development of disease-modifying therapy, but the disease pathogenesis is still enigmatic. Neurodege …
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
Chu YT, Lin HY, Chen PL, Lin CH. Chu YT, et al. BMC Neurol. 2020 Mar 17;20(1):101. doi: 10.1186/s12883-020-01684-6. BMC Neurol. 2020. PMID: 32183746 Free PMC article. Review.
BACKGROUND: Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. ...CONCLUSIONS: We showed that adult-onset PLAN could present as purely parkinsonism feature …
BACKGROUND: Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodege …
Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature.
Dhar D, Holla VV, Kamble N, Yadav R, Srinivas D, Pal PK. Dhar D, et al. Tremor Other Hyperkinet Mov (N Y). 2022 Jun 20;12:22. doi: 10.5334/tohm.693. eCollection 2022. Tremor Other Hyperkinet Mov (N Y). 2022. PMID: 35811746 Free PMC article. Review.
RESULTS: Seventeen patients were included. Generalized dystonia (11 patients, 64.7%) and tremor (5 patients, 29.4%) were the most common indication for surgery whereas, Wilson's disease (8 patients, 47.1%) and Neurodegeneration with brain iron …
RESULTS: Seventeen patients were included. Generalized dystonia (11 patients, 64.7%) and tremor (5 patients, 29.4%) were the most com …
15 results