title: Friedreich's ataxia: a clinical and genetic analysis.
abstract: We report a patient with genetically confirmed Friedreich's ataxia (FRDA) who developed a previously unreported feature of a mixed sleep apnea. Initial mutation analysis, by PCR, of the parental frataxin alleles showed an apparent de novo mutation in the maternal germline. Further investigation using Southern blot analysis showed that the mother did carry an expanded mutant frataxin allele. Based upon published data, FRDA resulting from at least one allelic spontaneous expansion mutation is rare with a frequency of less than 1/1,000,000. The presence of such a mutation should be confirmed by Southern blot analysis. Our patient expands the neurological features of FRDA to include sleep apnea. The genetic analysis of the family demonstrates the importance of Southern blot analysis for accurate genotyping which, in turn, has implications for genetic counseling.
authors.affiliation: New Jersey Neuroscience Institute, JFK Medical Center, 65 James Street, Edison, NJ 08818, USA.
authors.forename: P Leema
authors.initials: PL
authors.lastname: Reddy
authors.forename: Raji P
authors.initials: RP
authors.lastname: Grewal
mesh_terms: D000328:Adult; D000483:Alleles; D015139:Blotting, Southern; D004252:DNA Mutational Analysis; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012891:Sleep Apnea Syndromes / Q000175:diagnosis / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin