title: The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.
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 in the central region of Scotland. In this paper we summarize the clinical details and the molecular basis underlying the disease in the Scottish patients. Comparison of the combination of mutations in the different clinical types reveals a clear genotype-phenotype correlation.
authors: Departments of Paediatric Neurology and Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, United Kingdom.
authors: J B
authors: JB
authors: Stephenson
authors: N D
authors: ND
authors: Greene
authors: K Y
authors: KY
authors: Leung
authors: P B
authors: PB
authors: Munroe
authors: S E
authors: SE
authors: Mole
authors: R M
authors: RM
authors: Gardiner
authors: P E
authors: PE
authors: Taschner
authors: M
authors: M
authors: O'Regan
authors: K
authors: K
authors: Naismith
authors: Y J
authors: YJ
authors: Crow
authors: H M
authors: HM
authors: Mitchison
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007223:Infant; D009472:Neuronal Ceroid-Lipofuscinoses / Q000209:etiology* / Q000235:genetics*; D010641:Phenotype; D012606:Scotland
chemical_list: D018388:Codon, Terminator