Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.
DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new phenotype figures of diseases already well known. Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or availability of new techniques such as DNA testing and result in misdiagnosis. We present a case study of a 57 year-old woman with both expansion of the triplet repetitive sequence of FRDA gene and a premutation in FMR1 gene. At present we diagnose her with Very Late Onset Friedreich s ataxia, but we advise of possible combinations or aggravations of her symptoms due to manifestation of Fragile X premutation tremor/ataxia syndrome. In nontypical phenotypes of DNA verifying hereditary ataxias we recommend searching of comorbidity, specifically from a range of hereditary ataxias with very similar spectra of symptoms.
Zumrová
Alena
A
Neurogenetic Centre of 2nd Faculty of Medicine, Charles University and Medical Hospital Motol, Prague, Czech Republic. alena.zumrova@lfmotol.cuni.cz
Mazanec
Radim
R
Vyhnálek
Martin
M
Krepelová
Anna
A
Musová
Zuzana
Z
Krilová
Stefanie
S
Appltová
Ludmila
L
Havlovicová
Markéta
M
D004247:DNA / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics; D005621:Friedreich Ataxia / Q000235:genetics*; D020234:Gait Ataxia / Q000209:etiology; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018911:Trinucleotide Repeats / Q000235:genetics; D000096923:Frataxin
D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; D033862:Iron-Binding Proteins; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D000096923:Frataxin; C497683:FMR1 protein, human