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Quoted phrase not found in phrase index: "Cerebral lipidosis with dementia"
Page 1
Niemann-Pick disease type C.
Vanier MT. Vanier MT. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Orphanet J Rare Dis. 2010. PMID: 20525256 Free PMC article. Review.
The neurological disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures and dystonia are other common features. ...NP-C is currently described as a cellular cholesterol trafficking defect but in the brain, …
The neurological disorder consists mainly of cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures …
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Chen Y, Sam R, Sharma P, Chen L, Do J, Sidransky E. Chen Y, et al. Expert Opin Ther Targets. 2020 Apr;24(4):287-294. doi: 10.1080/14728222.2020.1733970. Epub 2020 Feb 27. Expert Opin Ther Targets. 2020. PMID: 32106725 Free PMC article. Review.
The hypothesis that therapeutic enhancement of brain glucocerebrosidase levels might reduce the aggregation, accumulation or spread of alpha-synuclein has spurred great interest in glucocerebrosidase as a novel therapeutic target.Area covered: This article explores the pot …
The hypothesis that therapeutic enhancement of brain glucocerebrosidase levels might reduce the aggregation, accumulation or spread o …
Genetics of cerebrovascular disorders.
Meschia JF, Brott TG, Brown RD Jr. Meschia JF, et al. Mayo Clin Proc. 2005 Jan;80(1):122-32. doi: 10.1016/S0025-6196(11)62969-8. Mayo Clin Proc. 2005. PMID: 15667040 Review.
Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mitoc …
Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effectiv …
ABCA7 and the altered lipidostasis hypothesis of Alzheimer's disease.
Lyssenko NN, Praticò D. Lyssenko NN, et al. Alzheimers Dement. 2021 Feb;17(2):164-174. doi: 10.1002/alz.12220. Epub 2020 Dec 17. Alzheimers Dement. 2021. PMID: 33336544 Free PMC article.
ABC transporters closely similar to ABCA7 protect cells by removing toxic lipids. ABCA7 may have analogous functions. The hypothesis predicts lipidosis and membrane protein dysfunction in neurons with low ABCA7. ...
ABC transporters closely similar to ABCA7 protect cells by removing toxic lipids. ABCA7 may have analogous functions. The hypothesis pred …
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ, Kirk A, Auer RN. Adams SJ, et al. J Clin Neurosci. 2018 Feb;48:42-49. doi: 10.1016/j.jocn.2017.10.060. Epub 2017 Nov 6. J Clin Neurosci. 2018. PMID: 29122458 Review.
Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, frontotemporal dementia, Alzheimer disease, atypical cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CA …
Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, frontotemporal dem …
NCL diseases - clinical perspectives.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. Schulz A, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. Biochim Biophys Acta. 2013. PMID: 23602993 Free PMC article.
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together are the most common degenerative brain diseases in childhood. They are a group of disorders linked by the characteristic accumulation of abnormal storage material in neurons and other ce …
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together are the most common degenerative brain disease …
Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment.
Cariati I, Masuelli L, Bei R, Tancredi V, Frank C, D'Arcangelo G. Cariati I, et al. Int J Mol Sci. 2021 Jun 20;22(12):6600. doi: 10.3390/ijms22126600. Int J Mol Sci. 2021. PMID: 34202978 Free PMC article. Review.
Progressive neurological deterioration and the onset of symptoms, such as ataxia, seizures, cognitive decline, and severe dementia, are pathognomonic features of the disease. In addition, different pathological similarities, including degeneration of hippocampal and cortic …
Progressive neurological deterioration and the onset of symptoms, such as ataxia, seizures, cognitive decline, and severe dementia, a …
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Patients were usually highly photosensitive on EEG. MRI showed progressive cerebral and cerebellar atrophy. The median survival time was 26 years from disease onset. ...Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor d …
Patients were usually highly photosensitive on EEG. MRI showed progressive cerebral and cerebellar atrophy. The median survival time …
Congenital CLN disease in two siblings.
Meyer S, Yilmaz U, Kim YJ, Steinfeld R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel J, Schofer O. Meyer S, et al. Wien Med Wochenschr. 2015 May;165(9-10):210-3. doi: 10.1007/s10354-015-0359-4. Epub 2015 Jun 10. Wien Med Wochenschr. 2015. PMID: 26059544
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) is characterized by a combination of retinopathy, dementia, and epilepsy. As a group, they encompass ten distinct biological and clinical entities and are the most common type of childhood neurodegenerative disease. PATIENTS …
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) is characterized by a combination of retinopathy, dementia, and epilepsy. As a group …
The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.
Wibbeler E, Nickel M, Schwering C, Schulz A, Mink JW. Wibbeler E, et al. Eur J Paediatr Neurol. 2022 May;38:62-65. doi: 10.1016/j.ejpn.2022.03.005. Epub 2022 Apr 4. Eur J Paediatr Neurol. 2022. PMID: 35427884 Free PMC article.
BACKGROUND: The neuronal ceroid lipofuscinoses (NCLs) are a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment. Together, NCLs represent the most common cause of cerebral neurodegenerative disease in chil …
BACKGROUND: The neuronal ceroid lipofuscinoses (NCLs) are a group of disorders characterized by neurodegeneration and intracellular accumula …
45 results