Genetic Linkage Analysis of a Variant of Juvenile Onset Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

Angela O'Rawe; Hannah M. Mitchison; Ruth Williams; Ruth Wheeler; Eva Andermann; F. Andermann; Y. M. Hart; Jean-Jacques Martin; Michel Philippart; John B. P. Stephenson; R. Mark Gardiner; Sara E. Mole

doi:10.1055/s-2007-973659

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Neuropediatrics 1997; 28(1): 21-22
DOI: 10.1055/s-2007-973659

Short communications

Genetic Linkage Analysis of a Variant of Juvenile Onset Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

Angela O'Rawe¹ , Hannah M. Mitchison¹ , Ruth Williams¹ , Ruth Wheeler¹ , Eva Andermann² , F. Andermann² , Y. M. Hart² , Jean-Jacques Martin³ , Michel Philippart⁴ , John B. P. Stephenson⁵ , R. Mark Gardiner¹ , Sara E. Mole¹

¹Department of Paediatrics, University College London Medical School, The Rayne Institute, London, United Kingdom;
²Montreal Neurological Institute and Hospital and The Centre for Human Genetics, McGill University, Montreal, Quebec, Canada;
³Departments of Paediatrics, Neurology and Psychiatry, UCLA School of Medicine, Los Angeles, California;
⁴Department of Neurology, University of Antwerp, Belgium,
⁵Department of Paediatric Neurology, The Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland

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Publication History

Publication Date:
13 March 2007 (online)

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Abstract

A number of variant forms of the neuronal ceroid lipofuscinoses (NCL) have been described and remain unmapped. The genes for infantile (CLN1), juvenile (CLN3) and Finnish-variant late-infantile (CLN5) have previously been mapped to chromosome regions 1p32, 16p12 and 13q21.1-32 respectively. The locus for a variant form of juvenile onset NCL characterised by cytosomal granular osmiophilic deposits (GROD) has been excluded from the CLN3 region of chromosome 16. This study describes the outcome of genetic linkage analysis in four families with this variant at the loci for the CLN1 and CLN5 genes. Using highly informative microsatellite markers tightly linked to the CLN5 locus we have excluded the JNCL variant with GROD from this region. Marker typing across the CLN1 region suggests that JNCL with GROD may be an allelic variant of infantile NCL.

Key words

JNCL - GRODs - Linkage - CLN1 - CLN3 - CLN5

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