The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.
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.
Stephenson
J B
JB
Departments of Paediatric Neurology and Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, United Kingdom.
Greene
N D
ND
Leung
K Y
KY
Munroe
P B
PB
Mole
S E
SE
Gardiner
R M
RM
Taschner
P E
PE
O'Regan
M
M
Naismith
K
K
Crow
Y J
YJ
Mitchison
H M
HM
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
D018388:Codon, Terminator