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Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.
Fujioka S, Sundal C, Wszolek ZK. Fujioka S, et al. Orphanet J Rare Dis. 2013 Jan 18;8:14. doi: 10.1186/1750-1172-8-14. Orphanet J Rare Dis. 2013. PMID: 23331413 Free PMC article. Review.
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramid
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia
Brain Calcification and Movement Disorders.
Kostić VS, Petrović IN. Kostić VS, et al. Curr Neurol Neurosci Rep. 2017 Jan;17(1):2. doi: 10.1007/s11910-017-0710-9. Curr Neurol Neurosci Rep. 2017. PMID: 28097511 Review.
Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyon …
Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial …
Spinocerebellar ataxia type 5.
Dick KA, Ikeda Y, Day JW, Ranum LP. Dick KA, et al. Handb Clin Neurol. 2012;103:451-9. doi: 10.1016/B978-0-444-51892-7.00028-0. Handb Clin Neurol. 2012. PMID: 21827906 Review.
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebellar ataxia (Ranum et al., 1994). ...Using a multifaceted mapping approach, Ikeda et al. (2006) discovered that beta-III
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of s …
Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.
Liu X, Wang L, Chen J, Kang C, Li J. Liu X, et al. Medicine (Baltimore). 2021 Dec 17;100(50):e28008. doi: 10.1097/MD.0000000000028008. Medicine (Baltimore). 2021. PMID: 34918652 Free PMC article. Review.
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, gait, and limbs, cerebellar dysarthria, and cerebellar and supranuclear eye movement disorders. SCA has been found to include many subt …
RATIONALE: Spinocerebellar ataxia (SCA) is a common neurogenetic disease that mainly manifests as ataxia of posture, gait, and …
Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.
Hagberg BA, Blennow G, Kristiansson B, Stibler H. Hagberg BA, et al. Pediatr Neurol. 1993 Jul-Aug;9(4):255-62. doi: 10.1016/0887-8994(93)90060-p. Pediatr Neurol. 1993. PMID: 8216537 Review.
A four-stage grouping system by age has been constructed and is presented. During infancy, internal organ symptoms are dominant; some may be life-threatening. In later childhood and adolescence, static mental deficiency, cerebellar ataxia, slowly progressive …
A four-stage grouping system by age has been constructed and is presented. During infancy, internal organ symptoms are dominant; some …
[Genetics of peripheral neuropathies and hereditary ataxias].
Palau F, Sevilla T. Palau F, et al. Neurologia. 1995 Dec;10 Suppl 1:32-43. Neurologia. 1995. PMID: 8838557 Review. Spanish.
This disease has various clinical presentations, which does not imply genetic heterogeneity. Dominant autosomal cerebellar ataxias, on the other hand, are extremely heterogeneous. ...One locus has been described for the "pure cerebellar form" (ACAD …
This disease has various clinical presentations, which does not imply genetic heterogeneity. Dominant autosomal cerebellar