The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland

Authors
Stephenson, JBP Greene, NDE Leung, KY Munroe, PB Mole, SE Gardiner, RM Taschner, PEM O'Regan, M Naismith, K Crow, YJ Mitchison, HM
Citation
Jbp. Stephenson et al., The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland, MOL GEN MET, 66(4), 1999, pp. 245-247
Citations number
5
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR GENETICS AND METABOLISM
ISSN journal
10967192 → ACNP
Volume
66
Issue
4
Year of publication
1999
Pages
245 - 247
Database
ISI
SICI code
1096-7192(199904)66:4<245:TMBOGN>2.0.ZU;2-7
Abstract
Two distinct clinical subtypes of neuronal ceroid lipofuscinosis caused by mutations in the PPT gene, INCL and vJNCL/GROD, occur at a high frequency i n the central region of Scotland, In this paper we summarize the clinical d etails and the molecular basis underlying the disease in the Scottish patie nts. Comparison of the combination of mutations in the different clinical t ypes reveals a clear genotype-phenotype correlation. (C) 1999 Academic Pres s.