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Page 1
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 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 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 …
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.
Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spinocerebellar ataxia type 1) and another on chromosome 12 (dentatorubropallidoluysian atrophy). The genes for Machado-Josep …
Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spi …
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 …
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.
The X-linked disorder, fragile-X tremor ataxia syndrome occurs in fragile-X permutation carriers, and typically causes a late-onset ataxia-plus syndrome. The recessive ataxias are not named systematically: The most frequent are Friedreich, ataxia telan …
The X-linked disorder, fragile-X tremor ataxia syndrome occurs in fragile-X permutation carriers, and typically causes a late-onset …
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). …
Yeast 14-3-3 proteins.
van Heusden GP, Steensma HY. van Heusden GP, et al. Yeast. 2006 Feb;23(3):159-71. doi: 10.1002/yea.1338. Yeast. 2006. PMID: 16498703 Review.
The binding partners, and hence the 14-3-3 proteins, are involved in almost every cellular process and 14-3-3 proteins have been linked to several diseases, such as cancer, Alzheimer's disease, the neurological Miller-Dieker and spinocerebellar ataxia …
The binding partners, and hence the 14-3-3 proteins, are involved in almost every cellular process and 14-3-3 proteins have be …
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). ...RESULTS: 85 EEG recordings from 38 patients (19 EA2, …
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia …
45 results