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A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.
J Neurol Neurosurg Psychiatry. 1999 Aug; 67(2):217-9.JN

Abstract

A family with pseudodominant Friedreich's ataxia is described showing marked variation of phenotype between affected siblings. The mother of this family (III-3) developed a spastic ataxic tetraplegia with neuropathy at 34 years of age; her husband, who was unrelated, was clinically normal. Of their nine children, two (IV-2, IV-3), including one with multiple sclerosis (IV-3), developed a mild spinocerebellar degeneration in the third decade. Three in their late 20s had an asymptomatic spinocerebellar degeneration (IV-4, IV-5, IV-6) and one was confined to a wheelchair at 15 years with typical Friedreich's ataxia (IV-9). Three other siblings (IV-1, IV-7, IV-8) were clinically normal. The father proved to be heterozygous for the triplet repeat expansion at the Friedreich's ataxia locus and all clinically affected members were homozygous for alleles in the expanded size range. This family confirms that homozygote-heterozygote mating is the genetic basis for some families with apparent autosomal dominant Friedreich's ataxia.

Authors+Show Affiliations

Department of Neurology, St Vincent's Hospital, Elm Park, Dublin 4, Ireland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10406994

Citation

Webb, S, et al. "A Family With Pseudodominant Friedreich's Ataxia Showing Marked Variation of Phenotype Between Affected Siblings." Journal of Neurology, Neurosurgery, and Psychiatry, vol. 67, no. 2, 1999, pp. 217-9.
Webb S, Doudney K, Pook M, et al. A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings. J Neurol Neurosurg Psychiatry. 1999;67(2):217-9.
Webb, S., Doudney, K., Pook, M., Chamberlain, S., & Hutchinson, M. (1999). A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings. Journal of Neurology, Neurosurgery, and Psychiatry, 67(2), 217-9.
Webb S, et al. A Family With Pseudodominant Friedreich's Ataxia Showing Marked Variation of Phenotype Between Affected Siblings. J Neurol Neurosurg Psychiatry. 1999;67(2):217-9. PubMed PMID: 10406994.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings. AU - Webb,S, AU - Doudney,K, AU - Pook,M, AU - Chamberlain,S, AU - Hutchinson,M, PY - 1999/7/17/pubmed PY - 1999/7/17/medline PY - 1999/7/17/entrez SP - 217 EP - 9 JF - Journal of neurology, neurosurgery, and psychiatry JO - J Neurol Neurosurg Psychiatry VL - 67 IS - 2 N2 - A family with pseudodominant Friedreich's ataxia is described showing marked variation of phenotype between affected siblings. The mother of this family (III-3) developed a spastic ataxic tetraplegia with neuropathy at 34 years of age; her husband, who was unrelated, was clinically normal. Of their nine children, two (IV-2, IV-3), including one with multiple sclerosis (IV-3), developed a mild spinocerebellar degeneration in the third decade. Three in their late 20s had an asymptomatic spinocerebellar degeneration (IV-4, IV-5, IV-6) and one was confined to a wheelchair at 15 years with typical Friedreich's ataxia (IV-9). Three other siblings (IV-1, IV-7, IV-8) were clinically normal. The father proved to be heterozygous for the triplet repeat expansion at the Friedreich's ataxia locus and all clinically affected members were homozygous for alleles in the expanded size range. This family confirms that homozygote-heterozygote mating is the genetic basis for some families with apparent autosomal dominant Friedreich's ataxia. SN - 0022-3050 UR - https://www.unboundmedicine.com/medline/citation/10406994/A_family_with_pseudodominant_Friedreich's_ataxia_showing_marked_variation_of_phenotype_between_affected_siblings_ L2 - https://jnnp.bmj.com/lookup/pmidlookup?view=long&pmid=10406994 DB - PRIME DP - Unbound Medicine ER -