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Friedreich's ataxia: a clinical and genetic analysis.
Clin Neurol Neurosurg. 2007 Feb; 109(2):200-2.CN

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+Show Affiliations

New Jersey Neuroscience Institute, JFK Medical Center, 65 James Street, Edison, NJ 08818, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17049722

Citation

Reddy, P Leema, and Raji P. Grewal. "Friedreich's Ataxia: a Clinical and Genetic Analysis." Clinical Neurology and Neurosurgery, vol. 109, no. 2, 2007, pp. 200-2.
Reddy PL, Grewal RP. Friedreich's ataxia: a clinical and genetic analysis. Clin Neurol Neurosurg. 2007;109(2):200-2.
Reddy, P. L., & Grewal, R. P. (2007). Friedreich's ataxia: a clinical and genetic analysis. Clinical Neurology and Neurosurgery, 109(2), 200-2.
Reddy PL, Grewal RP. Friedreich's Ataxia: a Clinical and Genetic Analysis. Clin Neurol Neurosurg. 2007;109(2):200-2. PubMed PMID: 17049722.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Friedreich's ataxia: a clinical and genetic analysis. AU - Reddy,P Leema, AU - Grewal,Raji P, Y1 - 2006/10/17/ PY - 2006/05/16/received PY - 2006/09/06/revised PY - 2006/09/12/accepted PY - 2006/10/20/pubmed PY - 2007/4/4/medline PY - 2006/10/20/entrez SP - 200 EP - 2 JF - Clinical neurology and neurosurgery JO - Clin Neurol Neurosurg VL - 109 IS - 2 N2 - 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. SN - 0303-8467 UR - https://www.unboundmedicine.com/medline/citation/17049722/Friedreich's_ataxia:_a_clinical_and_genetic_analysis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(06)00146-6 DB - PRIME DP - Unbound Medicine ER -