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FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.
Su SL, Wang WF, Wu SL, Wu HM, Chang JC, Huang CS, Cheng WL, Soong BW, Lee YC, Li JY, Kuo SJ, Chen M, Huang CN, Liu CS. Su SL, et al. Clin Chim Acta. 2012 Dec 24;414:225-7. doi: 10.1016/j.cca.2012.09.019. Epub 2012 Sep 29. Clin Chim Acta. 2012. PMID: 23031666
METHODS: In the present study, we used the difference in the serum FGF21 level to differentiate between ataxia patients with hereditary spinocerebellar atrophy (SCA-ataxia) and those with mitochondrial syndrome (Mito-ataxia). ...
METHODS: In the present study, we used the difference in the serum FGF21 level to differentiate between ataxia patients with hereditary s …
Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1.
Eder K, Kish SJ, Kirchgessner M, Ross BM. Eder K, et al. Mov Disord. 1998 Sep;13(5):813-9. doi: 10.1002/mds.870130510. Mov Disord. 1998. PMID: 9756151
Previous studies of patients with spinocerebellar atrophy type 1 (SCA-1) and Friedreich's ataxia (FA) have suggested the occurrence of membrane disturbances in both disorders. We measured concentrations of phosphatidylcholine (PC), diacyl and plasmalogen phosphatidy …
Previous studies of patients with spinocerebellar atrophy type 1 (SCA-1) and Friedreich's ataxia (FA) have suggested the occur …
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6.
Louis ED, Kuo SH, Tate WJ, Kelly GC, Gutierrez J, Cortes EP, Vonsattel JG, Faust PL. Louis ED, et al. Cerebellum. 2018 Apr;17(2):104-110. doi: 10.1007/s12311-017-0876-3. Cerebellum. 2018. PMID: 28791574 Free PMC article.
The median n-heterotopia/PC count and median PC in ET was between that of the controls and the SCAs; hence, in this regard, ET could represent an intermediate state or a less advanced state of spinocerebellar atrophy....
The median n-heterotopia/PC count and median PC in ET was between that of the controls and the SCAs; hence, in this regard, ET could represe …
MR findings in adult-onset adrenoleukodystrophy.
Kumar AJ, Köhler W, Kruse B, Naidu S, Bergin A, Edwin D, Moser HW. Kumar AJ, et al. AJNR Am J Neuroradiol. 1995 Jun-Jul;16(6):1227-37. AJNR Am J Neuroradiol. 1995. PMID: 7677014 Free PMC article.
CONCLUSION: It is important to recognize the MR findings of adult-onset adrenoleukodystrophy, because not uncommonly the clinical and MR findings of adrenoleukodystrophy are misdiagnosed as multiple sclerosis, olivopontocerebellar or spinocerebellar atrophy, amyotro …
CONCLUSION: It is important to recognize the MR findings of adult-onset adrenoleukodystrophy, because not uncommonly the clinical and MR fin …
Infantile-onset spinocerebellar ataxia: MR and CT findings.
Koskinen T, Valanne L, Ketonen LM, Pihko H. Koskinen T, et al. AJNR Am J Neuroradiol. 1995 Aug;16(7):1427-33. AJNR Am J Neuroradiol. 1995. PMID: 7484627 Free PMC article.
CONCLUSION: The brain MR and CT findings of patients with infantile-onset spinocerebellar ataxia correspond to the neuropathologic entities of cerebellar cortical atrophy, olivopontocerebellar atrophy, and spinocerebellar atrophy. The appearance of the findings foll …
CONCLUSION: The brain MR and CT findings of patients with infantile-onset spinocerebellar ataxia correspond to the neuropathologic entities …
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S. Paradas C, et al. JAMA Neurol. 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888. JAMA Neurol. 2014. PMID: 24248152 Free PMC article.
Brain magnetic resonance imaging revealed nonprogressive white matter lesions and spinocerebellar atrophy similar to typical adult polyglucosan body disease. ...
Brain magnetic resonance imaging revealed nonprogressive white matter lesions and spinocerebellar atrophy similar to typical a …
Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Lee CC, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2018 Feb;57(1):128-132. doi: 10.1016/j.tjog.2017.12.022. Taiwan J Obstet Gynecol. 2018. PMID: 29458882 Free article.
CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family history of spinocerebellar atrophy in the husband. Amniocentesis revealed a karyotype of 46,XX. ...
CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family history of spinocerebellar a …
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1.
Klostermann W, Zühlke C, Heide W, Kömpf D, Wessel K. Klostermann W, et al. J Neurol. 1997 Feb;244(2):105-11. doi: 10.1007/s004150050058. J Neurol. 1997. PMID: 9120492
In order to study the relation between genotype and phenotype, a detailed study of the course of oculomotor deficits was performed in three patients with autosomal-dominant cerebellar ataxia, subtype spinocerebellar atrophy type 1 (SCA 1) using clinical testing and …
In order to study the relation between genotype and phenotype, a detailed study of the course of oculomotor deficits was performed in three …
Oculomotor testing in the differential diagnosis of degenerative ataxic disorders.
Wessel K, Moschner C, Wandinger KP, Kömpf D, Heide W. Wessel K, et al. Arch Neurol. 1998 Jul;55(7):949-56. doi: 10.1001/archneur.55.7.949. Arch Neurol. 1998. PMID: 9678312 Clinical Trial.
All 6 patients with OPCA and slow saccades had an autosomal-dominant inheritance; 4 of them were proved to have spinocerebellar atrophy type 1. In 9 of these patients (4 with FA, 1 with CA, and 4 with OPCA), the genetic defect could not be identified. ...
All 6 patients with OPCA and slow saccades had an autosomal-dominant inheritance; 4 of them were proved to have spinocerebellar at …
Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease.
Yokota T, Sasaki H, Iwabuchi K, Shiojiri T, Yoshino A, Otagiri A, Inaba A, Yuasa T. Yokota T, et al. J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):530-4. doi: 10.1136/jnnp.65.4.530. J Neurol Neurosurg Psychiatry. 1998. PMID: 9771779 Free PMC article.
OBJECTIVES: To characterise electrophysiologically the central motor conduction of spinocerebellar atrophy type 1 (SCA1), type 2 (SCA2), and Machado-Joseph disease (MJD). ...
OBJECTIVES: To characterise electrophysiologically the central motor conduction of spinocerebellar atrophy type 1 (SCA1), type …
13 results