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Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.
Acta Neurol Scand. 2007 May; 115(5):364-6.AN

Abstract

OBJECTIVE

A family with a clinically heterogeneous progressive ataxia in two generations is presented.

METHODS

Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene.

RESULTS

The affected members (father, son and daughter) were homozygous for the mutation at the Friedreich's gene, while the unaffected (the mother and her sister) were heterozygous.

CONCLUSION

This pseudodominant form of Friedreich's ataxia should be considered in families with an apparently autosomal dominant progressive ataxia in conjunction with sensory neuropathy and pyramidal signs.

Authors+Show Affiliations

Department of Neurology, Athens National University, Eginition Hospital, Athens, Greece. mpanas@med.uoa.grNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17489949

Citation

Panas, M, et al. "Pseudodominant Friedreich's Ataxia With Phenotypic Heterogeneity." Acta Neurologica Scandinavica, vol. 115, no. 5, 2007, pp. 364-6.
Panas M, Kalfakis N, Vassilopoulos D. Pseudodominant Friedreich's ataxia with phenotypic heterogeneity. Acta Neurol Scand. 2007;115(5):364-6.
Panas, M., Kalfakis, N., & Vassilopoulos, D. (2007). Pseudodominant Friedreich's ataxia with phenotypic heterogeneity. Acta Neurologica Scandinavica, 115(5), 364-6.
Panas M, Kalfakis N, Vassilopoulos D. Pseudodominant Friedreich's Ataxia With Phenotypic Heterogeneity. Acta Neurol Scand. 2007;115(5):364-6. PubMed PMID: 17489949.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pseudodominant Friedreich's ataxia with phenotypic heterogeneity. AU - Panas,M, AU - Kalfakis,N, AU - Vassilopoulos,D, PY - 2007/5/11/pubmed PY - 2007/6/30/medline PY - 2007/5/11/entrez SP - 364 EP - 6 JF - Acta neurologica Scandinavica JO - Acta Neurol Scand VL - 115 IS - 5 N2 - OBJECTIVE: A family with a clinically heterogeneous progressive ataxia in two generations is presented. METHODS: Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene. RESULTS: The affected members (father, son and daughter) were homozygous for the mutation at the Friedreich's gene, while the unaffected (the mother and her sister) were heterozygous. CONCLUSION: This pseudodominant form of Friedreich's ataxia should be considered in families with an apparently autosomal dominant progressive ataxia in conjunction with sensory neuropathy and pyramidal signs. SN - 0001-6314 UR - https://www.unboundmedicine.com/medline/citation/17489949/Pseudodominant_Friedreich's_ataxia_with_phenotypic_heterogeneity_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0001-6314&date=2007&volume=115&issue=5&spage=364 DB - PRIME DP - Unbound Medicine ER -