Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.
BACKGROUND
Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs.


METHODS
We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease.


RESULTS
The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene.


CONCLUSIONS
Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.
De Michele
Giuseppe
G
Department of Neurological Sciences, Federico II University, Naples, Italy.
Pocchiari
Maurizio
M
Petraroli
Rossella
R
Manfredi
Mario
M
Caneve
Giorgio
G
Coppola
Giovanni
G
Casali
Carlo
C
Saccà
Francesco
F
Piccardo
Pedro
P
Salvatore
Elena
E
Berardelli
Alfredo
A
Orio
Marcello
M
Barbieri
Fabrizio
F
Ghetti
Bernardino
B
Filla
Alessandro
A
D000328:Adult; D000368:Aged; D000682:Amyloid / Q000235:genetics*; D001259:Ataxia / Q000209:etiology; D002531:Cerebellum / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors