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The following term was not found in PubMed: ataxia-dysmorphism
Page 1
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J. Niemann N, et al. Parkinsonism Relat Disord. 2019 Oct;67:74-89. doi: 10.1016/j.parkreldis.2019.06.025. Epub 2019 Jun 30. Parkinsonism Relat Disord. 2019. PMID: 31272925 Review.
Although the mainstay of treatment remains levodopa, other symptomatic therapies such as botulinum toxin for focal dystonia, supportive medical therapies, and deep brain stimulation in select cases, may also be used to provide the most optimal long-term outcomes. .. …
Although the mainstay of treatment remains levodopa, other symptomatic therapies such as botulinum toxin for focal dystonia, supporti …
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P. Le Roux M, et al. Eur J Paediatr Neurol. 2021 Jul;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Epub 2021 May 26. Eur J Paediatr Neurol. 2021. PMID: 34102571 Free article.
CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). ...
CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia …
A study on non-invasive prenatal screening for the detection of aneuploidy.
Chen Y, Yang F, Shang X, Liu S, Li M, Zhong M. Chen Y, et al. Ginekol Pol. 2022;93(9):716-720. doi: 10.5603/GP.a2021.0254. Epub 2022 Mar 22. Ginekol Pol. 2022. PMID: 35315016 Free article.
RESULTS: A total of 68 cases of twin pregnancy abnormalities were detected by NIPT, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, 39 cases of Spinocerebellar ataxias (SCAs), and 4 cases of other chromosomal abnormalities. ...
RESULTS: A total of 68 cases of twin pregnancy abnormalities were detected by NIPT, including 18 cases of trisomy 21, 6 cases of trisomy 18, …
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.
Vogel AP, Folker J, Poole ML. Vogel AP, et al. Cochrane Database Syst Rev. 2014 Oct 28;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. Cochrane Database Syst Rev. 2014. PMID: 25348587 Review.
BACKGROUND: Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. ...The 14th trial, involving a mixed group of participants with spinocerebellar ataxia, compared the effectiveness of nonspecific ph …
BACKGROUND: Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. …
Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease.
Oliveira JBL, Martinez ARM, França MC Jr. Oliveira JBL, et al. Expert Opin Pharmacother. 2022 Oct;23(15):1687-1694. doi: 10.1080/14656566.2022.2135432. Epub 2022 Oct 19. Expert Opin Pharmacother. 2022. PMID: 36254604
INTRODUCTION: Machado-Joseph disease or spinocerebellar ataxia type 3 (SCA3/MJD) is the leading cause of autosomal dominant ataxia worldwide. ...AREAS COVERED: Authors review available literature on both disease-modifying and symptomatic pharmacological therapies fo …
INTRODUCTION: Machado-Joseph disease or spinocerebellar ataxia type 3 (SCA3/MJD) is the leading cause of autosomal dominant ataxia wo …
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Chelban V, et al. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30. Mov Disord. 2018. PMID: 29603387 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cgamma gene. ...CONCLUSION: We present one of the largest genetically confirmed spinocerebellar ataxia type 14 cohorts contributin …
BACKGROUND: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kina …
Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia.
Zumrová A. Zumrová A. Neuro Endocrinol Lett. 2005 Apr;26(2):98-108. Neuro Endocrinol Lett. 2005. PMID: 15855879 Review.
Differential diagnosis in neurologic patients with spinocerebellar syndrome is complex as a result of the great degree of variability in phenotypic and genetic aspects of more than 200 nosological entities. In the past decade, genetic etiology has been discovered in …
Differential diagnosis in neurologic patients with spinocerebellar syndrome is complex as a result of the great degree of vari …
The differential diagnosis of chorea.
Wild EJ, Tabrizi SJ. Wild EJ, et al. Pract Neurol. 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. Pract Neurol. 2007. PMID: 18024776 Review.
In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resemble it, including HDL1-3, inherited prion disease, spinocerebellar ataxias 1, 3 and 17, neuroacanthocytosis, dentatorubro-pallidoluys …
In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resem …
ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.
Cozaru GC, Aşchie M, Mitroi AF, Poinăreanu I, Gorduza EV. Cozaru GC, et al. Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar;120(1):15-22. Rev Med Chir Soc Med Nat Iasi. 2016. PMID: 27125067
Neurodegenerative diseases, such as Alzheimer's dementia, Huntington's chorea, Parkinson's disease or spinocerebellar ataxia, manifests into adulthood with an insidious onset, slowly of progressive symptoms. ...A similar mechanism represented by expansion of trinucleotide …
Neurodegenerative diseases, such as Alzheimer's dementia, Huntington's chorea, Parkinson's disease or spinocerebellar ataxia, manifes …
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD. Horton LC, et al. Cerebellum. 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4. Cerebellum. 2013. PMID: 22915085 Free PMC article.
Spinocerebellar ataxia type 7 is a neurodegenerative polyglutamine disease characterized by ataxia and retinal degeneration. ...Hyperreflexia was present from Stage 1 onwards. Restless legs syndrome and sensory impairment were common. Neuropathological hallmarks wer …
Spinocerebellar ataxia type 7 is a neurodegenerative polyglutamine disease characterized by ataxia and retinal degeneration. ...Hyper …
29 results