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Friedreich's ataxia: clinical heterogeneity in two sisters.
Neurol Sci. 2006 Jun; 27(2):140-2.NS

Abstract

Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.

Authors+Show Affiliations

Department of Neurosciences, Second Neurological Clinic, S. Antonio Hospital, University of Padova, Via Facciolati 71, I-35100, Padova, Italy. mario.armani@unipd.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16816915

Citation

Armani, M, et al. "Friedreich's Ataxia: Clinical Heterogeneity in Two Sisters." Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, vol. 27, no. 2, 2006, pp. 140-2.
Armani M, Zortea M, Pastorello E, et al. Friedreich's ataxia: clinical heterogeneity in two sisters. Neurol Sci. 2006;27(2):140-2.
Armani, M., Zortea, M., Pastorello, E., Lombardi, S., Tonello, S., Zuliani, L., Rigoni, M. T., & Trevisan, C. P. (2006). Friedreich's ataxia: clinical heterogeneity in two sisters. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 27(2), 140-2.
Armani M, et al. Friedreich's Ataxia: Clinical Heterogeneity in Two Sisters. Neurol Sci. 2006;27(2):140-2. PubMed PMID: 16816915.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Friedreich's ataxia: clinical heterogeneity in two sisters. AU - Armani,M, AU - Zortea,M, AU - Pastorello,E, AU - Lombardi,S, AU - Tonello,S, AU - Zuliani,L, AU - Rigoni,M T, AU - Trevisan,C P, PY - 2005/09/05/received PY - 2006/02/14/accepted PY - 2006/7/4/pubmed PY - 2006/8/19/medline PY - 2006/7/4/entrez SP - 140 EP - 2 JF - Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology JO - Neurol Sci VL - 27 IS - 2 N2 - Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA. SN - 1590-1874 UR - https://www.unboundmedicine.com/medline/citation/16816915/Friedreich's_ataxia:_clinical_heterogeneity_in_two_sisters_ L2 - https://link.springer.com/10.1007/s10072-006-0617-8 DB - PRIME DP - Unbound Medicine ER -