Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.
We describe two sisters with early onset gait ataxia, rapid disease progression, absent or very mild dysarthria and upper limb dysmetria, retained knee jerks in one, slight to moderate peripheral nerve involvement, and diabetes. Molecular analysis showed that they are compound heterozygotes for GAA expansion and a novel exon 5a missense mutation (R165P). This mutation appears to be associated with an atypical but not milder Friedreich ataxia phenotype.
De Michele
G
G
Department of Neurological Sciences, Federico II University, Naples, Italy.
Filla
A
A
Cavalcanti
F
F
Tammaro
A
A
Monticelli
A
A
Pianese
L
L
Di Salle
F
F
Perreti
A
A
Santoro
L
L
Caruso
G
G
Cocozza
S
S
D000328:Adult; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D006801:Humans; D033862:Iron-Binding Proteins; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018911:Trinucleotide Repeats; D000096923:Frataxin
D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin