Familial essential tremor is not associated with SCA-12 mutation in southern Italy.
We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA-12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA-12 are distinct diseases.
Nicoletti
Giuseppe
G
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Annesi
Grazia
G
Carrideo
Sara
S
Tomaino
Carmine
C
Di Costanzo
Alfonso
A
Zappia
Mario
M
Quattrone
Aldo
A
D000483:Alleles; D002895:Chromosomes, Human, Pair 5; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005828:Genetics, Population; D006801:Humans; D007558:Italy; D008297:Male; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D054648:Protein Phosphatase 2; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
C432785:PPP2R1B protein, human; C086766:Ppp2r1b protein, mouse; D010749:Phosphoprotein Phosphatases; D054648:Protein Phosphatase 2