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1994 2
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Spinocerebellar ataxia type 14.
Chen DH, Raskind WH, Bird TD. Chen DH, et al. Handb Clin Neurol. 2012;103:555-9. doi: 10.1016/B978-0-444-51892-7.00036-X. Handb Clin Neurol. 2012. PMID: 21827914 Review.
SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. Although generally an uncomplicated cerebellar ataxia with gait imbalance, dysarthria, and nystagmus, there i …
SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progressi …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Ca(2+) signaling and spinocerebellar ataxia.
Hisatsune C, Hamada K, Mikoshiba K. Hisatsune C, et al. Biochim Biophys Acta Mol Cell Res. 2018 Nov;1865(11 Pt B):1733-1744. doi: 10.1016/j.bbamcr.2018.05.009. Epub 2018 May 16. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29777722 Free article. Review.
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. ...
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily …
Spinocerebellar ataxia type 15.
Storey E, Gardner RJ. Storey E, et al. Handb Clin Neurol. 2012;103:561-5. doi: 10.1016/B978-0-444-51892-7.00037-1. Handb Clin Neurol. 2012. PMID: 21827915 Review.
Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. ...
Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly in …
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 pyramidal signs, ophthalmoplegia, and trem …
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classicall …
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Clin Transl Med. 2024 Jan;14(1):e1504. doi: 10.1002/ctm2.1504. Clin Transl Med. 2024. PMID: 38279833 Free PMC article. Review.
Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. ...Over the past few years, the implementation of advanced bioinformatics tools and long-read sequen …
Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their gr …
The electrophysiological footprint of CACNA1A disorders.
Indelicato E, Unterberger I, Nachbauer W, Eigentler A, Amprosi M, Zeiner F, Haberlandt E, Kaml M, Gizewski E, Boesch S. Indelicato E, et al. J Neurol. 2021 Jul;268(7):2493-2505. doi: 10.1007/s00415-021-10415-x. Epub 2021 Feb 5. J Neurol. 2021. PMID: 33544220 Free PMC article. Review.
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). ...A review of the related literature was performed. RE …
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia …
14-3-3 proteins and spinocerebellar ataxia type 1: from molecular interaction to human neuropathology.
Umahara T, Uchihara T. Umahara T, et al. Cerebellum. 2010 Jun;9(2):183-9. doi: 10.1007/s12311-010-0158-9. Cerebellum. 2010. PMID: 20155408 Review.
This mini-review focuses on the possible relevance of 14-3-3 proteins in spinocerebellar ataxia type 1 (SCA1). 14-3-3 proteins are mainly localized in the synapses and neuronal cytoplasm, and seven isoforms have been identified in mammals. ...At …
This mini-review focuses on the possible relevance of 14-3-3 proteins in spinocerebellar ataxia type 1 (SCA1). …
Degenerative ataxias.
Subramony SH. Subramony SH. Curr Opin Neurol. 1994 Aug;7(4):316-22. doi: 10.1097/00019052-199408000-00007. Curr Opin Neurol. 1994. PMID: 7952239 Review.
An adult- onset Friedreich's phenotype may result from a gene abnormality of the same locus as classic Friedreich's ataxia. Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spinocerebel …
An adult- onset Friedreich's phenotype may result from a gene abnormality of the same locus as classic Friedreich's ataxia. Two disti …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a potentially bewildering profusion of newly described genetic ataxias. ...The recessive ataxias are not named systemat …
This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there ha …
44 results