نتایج جستجو برای: hereditary ataxia
تعداد نتایج: 100227 فیلتر نتایج به سال:
Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium channel, there are few reports of genetically confirmed EA-2 in Korea. In 1998, a Korean family wi...
Genetic defects in DNA repair are increasingly recognized as being able to cause degenerative ataxia syndromes. It remains a mystery, however, why disruption of a process fundamental to proliferating cells can be selectively toxic to postmitotic neurons. Recent studies now reveal that an ataxia gene, tyrosyl phosphodiesterase 1 (TDP1), repairs single-stranded DNA breaks in nondividing cells. He...
Ataxia-telangiectasia (A-T) is a rare hereditary neurodegenerative disorder. Ataxia and telangiectasias are the hallmarks of the disease. A spectrum of manifestations may be seen in one family. There is no gold standard diagnostic test and diagnosis relies on clinical evaluation, exclusion of similar conditions, and supportive laboratory tests. More than 99% of individuals with classic A-T have...
Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*), establishing the diagnosis of autosomal recessi...
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