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D Spalton

Publications and source records attributed to D Spalton.

5 recordsLinked to original sources
PubMed2001

Physical and transcript map of the dominant optic atrophy (OPA1) gene critical region at 3q28-q29.

The dominant optic atrophy gene (OPA1) has previously been mapped to chromosome 3q28-q29. We have now constructed a physical and transcriptional map across the OPA1 critical region between markers D3S3557 and D3S3346. It comprises 21 sequence-tagged sites (STSs), 4 single nucleotide polymorphisms, 29 expressed sequence tags, 2 known genes, and 12 newly generated STSs anchored onto 21 yeast artificial chromosome, 22 bacterial artificial chromosome, 48 P1 phage artificial chromosome, and 42 cosmid overlapping clones spanning 2.5 Mb. The map has allowed us to order many of the markers hitherto only roughly defined and to exclude 23 of the putative candidate genes assigned to the region. We found the OPA1 critical interval to be 450-550 kb. It contains 2 known genes, RPL35a and SDHA, which thus constitute candidate genes.

Chromosomes, Human, Pair 3↗
PubMed1996

Ocular neuromyotonia.

AIMS/BACKGROUND: Ocular neuromyotonia is characterised by spontaneous spasm of extraocular muscles and has been described in only 14 patients. Three further cases, two with unique features, are described, and the underlying mechanism reviewed in the light of recent experimental evidence implicating extracellular potassium concentration in causing spontaneous firing in normal and demyelinated axons. METHODS: Two patients had third nerve neuromyotonia, one due to compression by an internal carotid artery aneurysm, which has not been reported previously, while the other followed irradiation of a pituitary tumour, a common association in the published reports. Selective activation occurred in both, where neuromyotonic activity was triggered by prolonged voluntary activation of specific extraocular muscles with or without spread of activity to other third nerve muscles. The other patient had fourth nerve involvement, where spasms of the superior oblique muscle were induced only by alcohol, a phenomenon which has not been described. RESULTS: The two patients with third nerve involvement responded to carbamazepine and in one, an improvement in a chronic partial third nerve paresis occurred. The other has not required treatment and remains asymptomatic by refraining from alcohol. CONCLUSIONS: A careful examination, including the effects of prolonged voluntary muscle action is required to initiate episodes and to demonstrate selective activation. Imaging is mandatory to exclude compressive intracranial lesions, particularly where there is no history of pituitary fossa irradiation. A trial of anticonvulsants should be considered in all patients. Extracellular potassium may play a role in spontaneous firing and ephatic transmission in ocular neuromyotonia.

Adult↗
PubMed1981

Rapid visual loss.

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Acute Disease↗