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- W123533350 abstract "Nystagmus is a disorder of eye movement characterised by irregular, uncontrolled andrepetitive eye movements. It can occur in a broad spectrum of clinical situations anddiseases or it may occur in isolation and an inherited disorder. Surprisingly little isknown about the underlying mechanisms of ocular-motor control. Similarly, thepathophysiological mechanisms underpinning nystagmus is also poorly understood. Bystudying pedigrees in whom nystagmus seems to be inherited as an isolated trait(Congenital Idiopathic Nystagmus), it may be possible to identify some of the geneticcauses of this disorder and subsequently understand the pathophysiology. This thesis describes a molecular genetic study of congenital nystagmus. A clinicalphenotyping study is followed by linkage analysis and positional cloning. A novelnystagmus gene is investigated in a large cohort of Congenital Idiopathic Nystagmus(CIN) patients and X-inactivation studies are performed. Subsequently, cell culture andRT-PCR work is performed to study expression of this gene. Additionally a pedigree withan atypical congenital nystagmus disorder is investigated and a new mutation within aknown cerebellar disease gene is identified. This work contributed to the identification of the first gene for Congenital IdiopathicNystagmus (CIN). The first detailed temporal expression study of the FRMD7 nystagmusgene was also performed in this study which has directed further studies into thepathogenesis of CIN. Identification of a new mutation in the CACNA1A gene in apedigree with nystagmus and subtle cerebellar signs has lead to the consideration ofthis gene in patients who present to hospital with isolated atypical nystagmus." @default.
- W123533350 created "2016-06-24" @default.
- W123533350 creator A5060258251 @default.
- W123533350 date "2009-03-01" @default.
- W123533350 modified "2023-09-28" @default.
- W123533350 title "A molecular-genetic study of Congenital Nystagmus" @default.
- W123533350 hasPublicationYear "2009" @default.
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