An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

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Item Type:	Article
Title:	An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures
Creators Name:	Straussberg, R., Basel-Vanagaite, L., Kivity, S., Dabby, R., Cirak, S., Nuernberg, P., Voit, T., Mahajnah, M., Inbar, D., Saifi, G.M., Lupski, J.R., Delague, V., Megarbane, A., Richter, A., Leshinsky, E. and Berkovic, S.F.
Abstract:	he authors describe three siblings born to consanguineous parents with early onset ataxia, dysarthria, myoclonic, generalized tonic clonic seizures, upward gaze palsy, extensor plantar reflexes, sensory neuropathy, and normal cognition. Direct screening excluded mutations in FRDA, TDP1, and SACS genes and at 8344, 3243, and 8993 positions of mitochondrial DNA. Linkage analysis excluded AOA-1, EPM1, EPM2A, EPM2B, CAMOS, and recessive ataxias linked to chromosome 9q34-9qter. This clinical constellation may represent a distinct form of early onset cerebellar ataxia.
Keywords:	Cerebellar Ataxia, Recessive Genes, Ocular Motility Disorders, Oculomotor Nerve Diseases, Seizures, Syndrome
Source:	Neurology
ISSN:	0028-3878
Publisher:	American Academy of Neurology
Volume:	64
Number:	1
Page Range:	142-144
Date:	1 January 2005
Official Publication:	https://doi.org/10.1212/01.WNL.0000148600.60470.E6
PubMed:	View item in PubMed

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