Accuracy of clinical diagnostic criteria for Friedreich's ataxia.
The accuracy of the diagnostic criteria for Friedreich's ataxia proposed by Harding and by the Quebec Cooperative Study on Friedreich's Ataxia was studied in 142 patients with progressive unremitting ataxia of autosomal recessive inheritance or sporadic occurrence. Eighty-eight patients received the molecular diagnosis of Friedreich's ataxia. Traditional diagnostic criteria are characterized by high specificity, but they yield a high number of false-negative diagnoses. We suggest three levels of diagnostic certainty: (1) possible Friedreich's ataxia, defined as sporadic or recessive progressive ataxia with (a) lower limb areflexia and dysarthria, Babinski sign, or electrocardiographic repolarization abnormalities, or (b) with lower limb retained reflexes and electrocardiographic repolarization abnormalities (95% sensitivity and 88% positive predictive value); (2) probable Friedreich's ataxia as defined by Harding's criteria (63% sensitivity and 96% positive predictive value) or by Quebec Cooperative Study on Friedreich's Ataxia criteria (63% sensitivity and 98% positive predictive value); (3) definite diagnosis, molecularly confirmed.
Filla
A
A
Department of Neurological Sciences, Federico II University, Naples, Italy.
De Michele
G
G
Coppola
G
G
Federico
A
A
Vita
G
G
Toscano
A
A
Uncini
A
A
Pisanelli
P
P
Barone
P
P
Scarano
V
V
Perretti
A
A
Santoro
L
L
Monticelli
A
A
Cavalcanti
F
F
Caruso
G
G
Cocozza
S
S
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D003937:Diagnosis, Differential; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011237:Predictive Value of Tests; D012015:Reference Standards; D012680:Sensitivity and Specificity; D019680:Trinucleotide Repeat Expansion