Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition...
37 KB (2,946 words) - 13:44, 18 May 2024
spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia...
55 KB (5,946 words) - 10:57, 23 May 2024
Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological...
85 KB (10,375 words) - 02:05, 21 May 2024
Machado–Joseph disease (redirect from Spinocerebellar Ataxia Type-3)
or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which...
22 KB (2,332 words) - 13:45, 18 May 2024
Autosomal recessive cerebellar ataxia Sensory ataxia Spinocerebellar ataxia Vestibulocerebellar syndrome "Cerebellar ataxia". BBC News. November 30, 2004...
11 KB (1,047 words) - 13:05, 29 December 2023
Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited...
14 KB (1,560 words) - 17:28, 28 April 2024
Paraneoplastic cerebellar degeneration Polymicrogyria Rett syndrome Spinocerebellar ataxia Vertebral dissection Dennis, Mark; Bowen, William Talbot; Cho, Lucy...
4 KB (254 words) - 23:03, 29 January 2024
Ataxin-2 (section Spinocerebellar ataxia type 2 (SCA2))
in humans is encoded by the ATXN2 gene. Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2). Ataxin-2 contains the following protein domains:...
12 KB (1,550 words) - 05:39, 25 December 2023
Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of coordination in the arms and legs...
48 KB (5,038 words) - 08:49, 5 March 2024
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria...
12 KB (1,419 words) - 03:28, 25 December 2023
Japanese diarist. She wrote about her personal experiences living with spinocerebellar ataxia which was later published in the book 1 Litre no Namida. The book...
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syphilophobia. The theory that Lincoln was afflicted with type 5 spinocerebellar ataxia is no longer accepted. It was during his time as an Illinois legislator...
28 KB (3,177 words) - 18:46, 30 April 2024
expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. The first documentation of anticipation...
61 KB (7,973 words) - 04:54, 27 May 2024
anemia and spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either...
5 KB (364 words) - 17:18, 11 February 2024
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus...
5 KB (511 words) - 16:07, 30 September 2020
migraine or spinocerebellar ataxia. Some patients respond to acetazolamide though others do not. Typically, episodic ataxia presents as bouts of ataxia induced...
31 KB (3,128 words) - 15:49, 26 April 2024
RBFOX1 (section Spinocerebellar ataxia)
increased risk is said to be due to a duplication before exon 6. Spinocerebellar ataxia is a neurodegenerative disease that slowly impedes gait, causes...
31 KB (3,549 words) - 19:17, 19 April 2024
humans is encoded by the ATXN1 gene. Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by...
16 KB (1,998 words) - 13:52, 26 January 2024
medication that has been investigated as a potential treatment for spinocerebellar ataxia type 3 (SCA3), obsessive-compulsive disorder, and glioblastoma....
4 KB (261 words) - 04:25, 26 February 2024
be the most likely candidate lesion. Ataxia-oculomotor apraxia type 2 (AOA2), also known as spinocerebellar ataxia with axonal neuropathy type 2, has its...
14 KB (1,509 words) - 16:18, 11 February 2024
Huda Zoghbi (section Spinocerebellar ataxia type 1)
of devastating neurological disorders, such as Rett syndrome and spinocerebellar ataxia type 1. Zoghbi's discoveries have provided new ways of thinking...
38 KB (3,621 words) - 18:10, 19 May 2024
chromosome. The disease spinocerebellar ataxias has CAG trinucleotide repeat sequences that underlie several types of spinocerebellar ataxias (SCAs-SCA1; SCA2;...
31 KB (3,686 words) - 18:49, 6 May 2024
Capicua (protein) (section Spinocerebellar ataxia)
this interaction it plays a crucial role in the development of spinocerebellar ataxia type 1. While in a healthy organism this complex serves to ensure...
12 KB (1,435 words) - 22:56, 24 March 2024
cardiomyopathy Spinocerebellar ataxia (multiple types) Spinocerebellar ataxia amyotrophy deafness Spinocerebellar ataxia dysmorphism Spinocerebellar atrophy...
23 KB (1,934 words) - 16:05, 15 March 2024
Ataxia-telangiectasia Ataxia-oculomotor apraxia type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with axonal neuropathy type 1 Xeroderma...
4 KB (426 words) - 16:52, 8 April 2023
expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies...
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including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado–Joseph disease) and multiple system...
8 KB (731 words) - 13:28, 18 May 2024
spinal-bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia 1–3, 6–8, and 17. The first main category, the loss of function...
23 KB (2,477 words) - 06:38, 27 April 2024
disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. "Voltage-dependent calcium channels mediate the...
16 KB (1,826 words) - 03:28, 28 January 2024
focal cerebellar lesions and hereditary spinocerebellar and Friedrich's ataxia. More recently, two shorter ataxia scales based upon the ICARS have been...
4 KB (378 words) - 17:02, 23 January 2024