Similar or related medical conditions are arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed ... and ataxia. Ataxia, which is a neurological sign and symptom made up of gross incoordination of muscle movements and is a ...
Stevanin G, Dürr A, Brice A (January 2000). "Clinical and molecular advances in autosomal dominant cerebellar ataxias: from ... "Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1". Nature ... GeneReviews/NIH/NCBI/UW entry on Spinocerebellar Ataxia Type 2 Human ATXN2 genome location and ATXN2 gene details page in the ... Symptoms of SCA2 include ataxia (a loss of coordinated movements), parkinsonism, and dementia in some cases. The disease allele ...
Antibodies against mGluR1 receptors cause cerebellar ataxia and impair long-term depression (LTDpathies) in the cerebellum. In ... The mice did not show any basic anatomical changes in the brain but had impaired cerebellar long-term depression and ...
Symptoms include optic atrophy, nystagmus, cerebellar ataxia, seizures, spasticity, psychomotor retardation, ... a slow neurological regression occurred with prominent cerebellar ataxis, some spasticity, optic atrophy, and a mild ...
The affected puppy will show clinical signs of cerebellar dysfunction including ataxia, tremors, paresis, and seizures. The pet ...
... cerebellar hypoplasia, seizures and ataxia". European Journal of Human Genetics. 7 (5): 541-8. doi:10.1038/sj.ejhg.5200320. ... Zanni G, Bertini ES (May 2011). "X-linked disorders with cerebellar dysgenesis". Orphanet Journal of Rare Diseases. 6: 24. doi: ... Zanni G (February 2013). "X-linked intellectual disability-cerebellar hypoplasia syndrome". Orphanet. Bedeschi MF, Novelli A, ... cause X linked congenital cerebellar hypoplasia". Journal of Medical Genetics. 40 (6): 441-6. doi:10.1136/jmg.40.6.441. PMC ...
November 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked ... GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 2 OMIM entries on Ataxia with Oculomotor Apraxia Type 2 ... SETX was found to be mutated in juvenile ataxia with oculomotor apraxia type 2 (AOA2) and juvenile form of amyotrophic lateral ... March 2004). "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2". Nature Genetics. 36 (3): ...
... -tbl mutant mice are also characterized by cerebellar ataxia, an unstable gait, and a limb-flexion reflex triggered by ... Facial dysmorphism, macrocephaly, and intellectual disability but without cerebellar ataxia were also reported in two siblings ... "Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante ... The lack of cerebellar involvement was ascribed either to the nature of the mutation or the influence of modifier genes. ...
At toxic doses, patients experience vertical nystagmus, double vision, sedation, slurred speech, cerebellar ataxia, and tremor ... De Marcos FA, Ghizoni E, Kobayashi E, Li LM, Cendes F (July 2003). "Cerebellar volume and long-term use of phenytoin". Seizure ...
Bressoud died from cerebellar ataxia in Walnut Creek, California, on July 13, 2023, at age 91. "Eddie Bressoud - Society for ...
An abnormally small head, irritability, developmental delay, seizures, blindness and cerebellar ataxia can also be observed. A ...
"Linkage and Genetic Analysis in Adult Onset Periodic Vestibulo-Cerebellar Ataxia: Report of a New Family." American Journal of ... April 1996). "Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically ... Vestibulocerebellar syndrome shares clinical similarities with autosomal dominant ataxias, particularly episodic ataxia types 1 ... There have been very few studies on the effectiveness of drugs that are used for the management of other ataxias on ...
"Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a ...
Less severe cases with isolated cerebellar hypoplasia and symptoms of ataxia and jitteriness have been reported occasionally. ...
Sierra A1, Azcoitia I, Garcia-Segura L. Endogenous estrogen formation is neuroprotective in model of cerebellar ataxia. ... It is located posterior to the pyramid but anterior to the inferior cerebellar peduncle. These lamina house the cell bodies of ... ISBN 0-471-43058-7. Schweighofer N, Lang EJ, Kawato M. Role of the olivo-cerebellar complex in motor learning and control. ... Climbing fibers from the MAO synapse with the vermis, the flocculus, and the cerebellar hemispheres Dorsal accessory olivary ...
"Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and ... SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and ... and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy ... This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage- ...
... predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia ... Clinical overlap occurs in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial ... Jen J, Yue Q, Nelson S, Yu H, Litt M, Nutt J, Baloh R (1999). "A novel nonsense mutation in CACNA1A causes episodic ataxia and ... It can be accompanied by other symptoms, such as ataxia, coma, and paralysis. Migraine attacks may be provoked by minor head ...
She was born in the Sydney suburb of Blacktown with cerebellar ataxia due to asphyxiation at birth. She began cycling in ...
2001). "SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family". Ann. Neurol. 49 (1): 117- ... Defects in the 5' UTR of this gene may cause a rare form of autosomal dominant spinocerebellar ataxia 12. GRCh38: Ensembl ... GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 12 v t e (Articles with short description, Short description ...
1993). "Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1". ...
A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia. Mutant cells suffer ... "A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein ...
A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium ... CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 - 613227; Retrieved 27 December 2019 Hirota J, ...
Galloway's mother, Angela, died on November 3, 2012 at the age of 51 after suffering from cerebellar ataxia. Galloway is a ...
Immune-mediated cerebellar ataxias represent a group of disorders causing cerebellar ataxia induced by a dysfunction of ... "Fundamental Mechanisms of Autoantibody-Induced Impairments on Ion Channels and Synapses in Immune-Mediated Cerebellar Ataxias ... An example is episodic ataxia. Myasthenia gravis is an example of an autoimmune synaptopathy. Some toxins also affect synaptic ...
Maguire A, Hellier K, Hammans S, May A (2002). "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense ... GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia ABCB7+protein,+human at the U.S. National Library of ... Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. ABCB7 has been shown to interact with ... in X-linked sideroblastic anemia and ataxia (XLSA/A)". Hum. Mol. Genet. 8 (5): 743-9. doi:10.1093/hmg/8.5.743. PMID 10196363. ...
August 1997). "Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are ... January 1997). "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A- ... 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. ...
A Missense Mutation in the Sodium Channel Scn8a Is Responsible for Cerebellar Ataxia in the Mouse Mutant jolting. Journal of ... Mice in both the homozygous and heterozygous states develop the seizure phenotype and ataxia. Though homozygous mice die on ...
... is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The ...
In addition, signs of psychomotor retardation, sleep disturbances, cerebellar ataxia, and delayed development of head growth ...
This is a progressive movement disorder that begins with cerebellar ataxia between 10 and 14 weeks of age. After 6 months of ...