Spinocerebellar ataxia type-13
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized ... GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 13 (Articles with short description, Short description is ... "Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and ... Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with ...
Spinocerebellar ataxia type 1
"Spinocerebellar Ataxia Type 1 , The Ataxia Center , The University of Chicago". ataxia.uchicago.edu. University of Chicago ... and other known types of ataxia, calling the syndrome hereditary cerebellar ataxia, though it became known Marie's ataxia. ... Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is ... each type numbered in order as a new locus was found. In 1993, the gene and a mutation causing spinocerebellar ataxia type 1 ...
Spinocerebellar ataxia type 6
... (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is ... This gene has two splice forms, "Q-type" and "P-type", and the polyglutamine coding CAG expansion occurs in the P-type splice ... "Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function". J Biol Chem. 275 (15): 10893-8. doi:10.1074/jbc ... "Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia". Am J Med Genet ...
Autosomal recessive cerebellar ataxia type 1
... ataxias with metabolic disorders ataxias with a DNA repair defect degenerative ataxias ataxia associated with other features. ... The classification of autosomal recessive ataxias takes into consideration the phenotypes There are different types of ataxias ... ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 "Autosomal Recessive Cerebellar Ataxias." Fracis, Palau ... People with this type of ataxia share many characteristic symptoms including:[citation needed] frequent falls due to poor ...
Spinocerebellar ataxia
The symptoms of an ataxia vary with the specific type and with the individual patient. In many cases a person with ataxia ... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich's ataxia, and several others. However, ...
Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 15 has been classified as an ADCA Type III as it has been noted to have postural and action tremor ... Additionally, spinocerebellar ataxia type 20 (SCA20) is organized in ADCA III that often exhibits disease-like symptoms at an ... Burk, K (1996). "Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA". ... Some clusters of certain types of autosomal dominant cerebellar ataxia reach a prevalence of 5 per 100,000. RESERVED, INSERM ...
Episodic ataxia
This can also result in excitotoxicity, as may occur in some cases of spinocerebellar ataxia type-6. Episodic ataxia type-3 ( ... GeneReviews/NCBI/NIH/UW entry on Episodic Ataxia Type 1, Episodic Ataxia with Myokymia, Hereditary Cerebellar Ataxia with ... Also known as periodic vestibulocerebellar ataxia, type-4 episodic ataxia (EA4) is an extremely rare form of episodic ataxia ... Type-6 episodic ataxia (EA6) is a rare form of episodic ataxia, identified initially in a 10-year-old boy who first presented ...
GOSR2-related progressive myoclonus ataxia
GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of ... "GOSR2-related progressive myoclonus ataxia , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". 2021-03- ... "Orphanet: Progressive myoclonic epilepsy type 6". www.orpha.net. Retrieved 2022-06-16. " ... "A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia". American Journal of Human ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
"270550 - SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS". omim.org. Retrieved 2017-01-19. "Genetics Home Reference: SACS". U.S ... Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that ... "Autosomal recessive spastic ataxia of Charlevoix Saguenay". www.orpha.net. Retrieved 2017-01-19. "Muscular Dystrophy Canada: ... Some of the signs and symptoms include: stiffness of the legs appendicular and trunk ataxia hollow foot and hand deformities ...
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
It is a type of autosomal dominant cerebellar ataxia. Usually, people with this disorder have ataxia, mild-moderate ... "Autosomal dominant cerebellar ataxia, deafness, and narcolepsy". 16 June 2022. "Orphanet: Autosomal dominant cerebellar ataxia ... "Pruebas genéticas - Ataxia cerebelar autosómica dominante, sordera y narcolepsia (Autosomal dominant cerebellar ataxia, ... Autosomal dominant cerebellar ataxia, deafness, and narcolepsy is a rare progressive genetic disorder that primarily affects ...
Neuropathy, ataxia, and retinitis pigmentosa
The severity and prognosis vary with the type of mutation involved. Leigh's disease "Maternally inherited Leigh syndrome and ... Neuropathy, ataxia, and retinitis pigmentosa at NLM Genetics Home Reference NARP syndrome:ORPHA644 on orpha.net Nyhan, William ... Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance ... Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa. The MT-ATP6 gene provides instructions for ...
Ataxia
... glucose transporter type 1 deficiency, episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia. Novel ... It accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia present any ... Dystaxia is a mild degree of ataxia. The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ...
Autoimmune polyendocrine syndrome type 1
Cerebellar ataxia. APS-1 is caused by a mutation in the AIRE gene, encoding a protein called autoimmune regulator. This is ... Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual. ... Qian G, Yan X, Xuan J, Zheng D, He Z, Shen J (2022). "A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1 ... "Orphanet: Autoimmune polyendocrinopathy type 1". www.orpha.net. Retrieved 2017-04-22. Greenspan, F. S.; Gardner, D. C. (2004). ...
TTBK2
Xu, Q.; Li, X.; Wang, J.; Yi, J.; Lei, L.; Shen, L.; Jiang, H.; Xia, K.; Pan, Q.; Tang, B. (2009). "Spinocerebellar ataxia type ... Houlden, H.; Pagon, R. A.; Bird, T. D.; Dolan, C. R.; Stephens, K.; Adam, M. P. (1993). "Spinocerebellar Ataxia Type 11". PMID ... GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11 v t e (Articles with short description, Short description ... Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ...
Machado-Joseph disease
... is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia. MJD ... Spinocerebellar ataxia type 3 (SCA3) on the Azores are believed to have come from Portugal's northeast where Sephardic Jews ... Type II is the most common sub-type, affecting approximately 57% of individuals with MJD and symptoms typically begin between ... There are five sub-types of MJD that are characterized by the age of onset and range of symptoms. The sub-types illustrate a ...
Cav2.1
October 1997). "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the ... Spacey S (December 2011). "Episodic Ataxia Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Episodic Ataxia Type 2. ... episodic ataxia type 2, and spinocerebellar ataxia type 6. "Voltage-dependent calcium channels mediate the entry of calcium ... November 1996). "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene ...
Ataxin 1
GeneReviews/NIH/NCBI/UW entry on Spinocerebellar Ataxia Type 1 ataxin-1 at the U.S. National Library of Medicine Medical ... Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY (September 1996). "Spinocerebellar ataxia type-1 and ... ATXN1 is the gene mutated in spinocerebellar ataxia type 1 (SCA1), a dominantly-inherited, fatal genetic disease in which ... Donato SD, Mariotti C, Taroni F (2012-01-01). "Spinocerebellar ataxia type 1". In Dürr SH (ed.). Handbook of Clinical Neurology ...
QRICH1
"Spinocerebellar ataxia type 1". Retrieved 22 April 2011. "Activating Transcription Factor 7 Interacting Protein". Retrieved 23 ... Interacting Proteins: ATXN1, Spinocerebellar ataxia type 1 protein, and ATF7IP, activating transcription factor 7-interacting ...
List of OMIM disorder codes
COL2A1 Episodic ataxia, type 2; 108500; CACNA1A Episodic ataxia, type 6; 612656; SLC1A3 Episodic ataxia/myokymia syndrome; ... TBX21 Ataxia with isolated vitamin E deficiency; 277460; TTPA Ataxia, cerebellar, Cayman type; 601238; ATCAY Ataxia, early- ... type 1B; 276900; MYO7A Usher syndrome, type 1C; 276904; USH1C Usher syndrome, type 1D; 601067; CDH23 Usher syndrome, type 1D/F ... type I; 125850; HNF4A MODY, type II; 125851; GCK MODY, type III; 600496; HNF1A MODY, type IV; 606392; IPF1 Mohr-Tranebjærg ...
Sanger Brown
Known for Sanger-Brown cerebellar ataxia. He described it in 1892, it is one of the unusual types collected by Pierre Marie in ...
Short-limb skeletal dysplasia with severe combined immunodeficiency
McKusick, V. A.; Cross, H. E. (1966-02-28). "Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of ... Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive type of ...
Dysmetria
It is a type of ataxia. It can also include an inability to judge distance or scale. Hypermetria and hypometria are, ... There are many types of SCAs and though many exhibit similar symptoms (one being dysmetria), they are considered to be ... Friedreich's ataxia is a well-known SCA in which children have dysmetria. Cerebellar malformations extending to the brainstem ... There are two types of cerebellar disorders that produce dysmetria, specifically midline cerebellar syndromes and hemispheric ...
Trinucleotide repeat disorder
O'Hearn E, Holmes SE, Margolis RL (2012-01-01). "Chapter 34 - Spinocerebellar ataxia type 12". In Subramony SH, Dürr A (eds.). ... Srivastava AK, Takkar A, Garg A, Faruq M (January 2017). "Clinical behaviour of spinocerebellar ataxia type 12 and intermediate ... and spinocerebellar ataxia 1-3, 6-8, and 17. The first main category, the loss of function type with epigenetic contributions, ... In this second type of disorder, large repeat expansions in DNA are transcribed into pathogenic RNAs that form nuclear RNA foci ...
Position-effect variegation
The wild-type allele gets inactivated due to heterochromatinization. In plants, PEV has been observed in Oenothera blandina. ... Friedreich's ataxia Elgin, Sarah C.R.; Reuter, Gunter (August 2013). "Position-Effect Variegation, Heterochromatin Formation, ... A copy of wild-type white gene was placed adjacent to heterochromatin. The different mus mutants that were taken were: mus201D1 ... Hermann J. Muller (1930). "Types of visible variations induced by X-rays in Drosophila". Journal of Genetics. Springer India. ...
Health of Abraham Lincoln
The theory that Lincoln was afflicted with type 5 spinocerebellar ataxia is no longer accepted. It was during his time as an ... January 2006). "Spectrin mutations cause spinocerebellar ataxia type 5". Nature Genetics. 38 (2): 184-90. doi:10.1038/ng1728. ... 2009). "Abraham Lincoln did not have type 5 spinocerebellar ataxia". Neurology. 73 (16): 1328-1332. doi:10.1212/WNL. ... It has been theorized that Lincoln had Marfan syndrome or, more likely, Multiple endocrine neoplasia type 2B, both rare genetic ...
Niemann-Pick disease, type C
Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia". Trials. 22 (1): 84. doi:10.1186/s13063-020-05009-3. ... Niemann-Pick type C is biochemically, genetically and clinically distinct from Niemann-Pick Types A or and B. In Types A and B ... referred to as type C2. The clinical manifestations of types Niemann-Pick types C1 and C2 are similar because the respective ... Approximately 95% of Niemann-Pick type C cases are caused by genetic mutations in the NPC1 gene, referred to as type C1; 5% are ...
Dyssynergia
Types of dyssynergia include Ramsay Hunt syndrome type 1, bladder sphincter dyssynergia, and anal sphincter dyssynergia. ... This is also an aspect of ataxia. It is typical for dyssynergic patients to split a movement into several smaller movements. ... Ramsay Hunt syndrome type 1 is a rare, neurodegenerative disorder characterized by myoclonus, intention tremor, progressive ... ataxia and occasionally dementia. Bladder sphincter dyssynergia also known as detrusor sphincter dyssynergia is the decrease of ...
SPTBN2
Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1995). "Spinocerebellar ataxia type 5 in a family descended from the ... Mutations in this gene is associated with Spinocerebellar ataxia type 5. SPTBN2 has been shown to interact with: ACTR1A, Beta- ... "Spectrin mutations cause spinocerebellar ataxia type 5". Nat Genet. 38 (2): 184-90. doi:10.1038/ng1728. PMID 16429157. S2CID ...
GM2 gangliosidoses
... is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C and Ataxia ... "N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)". clinicaltrials.gov. Retrieved 2019-08-01. "N-Acetyl-L-Leucine for ... Ataxia-Telangiectasia". clinicaltrials.gov. Retrieved 2019-08-01. "IntraBio". Archived from the original on 2019-08-01. ...
Pediatric podiatry
Whilst some cavus foot types are familial and normally inherited, others are indicative of genetic neurological conditions, e.g ... Charcot-Marie-Tooth disease or Friedrich's ataxia. The appearance of high arched feet in young children should be noted.[ ...