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[Friedrich's ataxia: clinical difficulties and genetic possibilities].
Ned Tijdschr Geneeskd. 2002 Sep 07; 146(36):1669-72.NT

Abstract

Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2 women aged 32 and 37, who had features that included an onset of ataxia after the age of 25, retained tendon reflexes or hyperreflexia, absence of Babinski's sign, and/or a slowly progressive course. Friedreich's ataxia is the most frequent autosomal recessive cerebellar ataxia. Classical characteristics of the disease are a progressive cerebellar ataxia with an onset before the age of 25, loss of lower extremity tendon reflexes, and bilateral Babinski's sign. However, DNA-diagnostic testing based upon the detection of expanded GAA-repeats in the X25-gene, has shown that the clinical spectrum is broader than was previously assumed.

Authors+Show Affiliations

Afd. Neurologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. b.vandewarrenburg@czzoneu.azn.nlNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comment
English Abstract
Journal Article

Language

dut

PubMed ID

12244768

Citation

van de Warrenburg, B P C., et al. "[Friedrich's Ataxia: Clinical Difficulties and Genetic Possibilities]." Nederlands Tijdschrift Voor Geneeskunde, vol. 146, no. 36, 2002, pp. 1669-72.
van de Warrenburg BP, Knoers NV, Kremer HP. [Friedrich's ataxia: clinical difficulties and genetic possibilities]. Ned Tijdschr Geneeskd. 2002;146(36):1669-72.
van de Warrenburg, B. P., Knoers, N. V., & Kremer, H. P. (2002). [Friedrich's ataxia: clinical difficulties and genetic possibilities]. Nederlands Tijdschrift Voor Geneeskunde, 146(36), 1669-72.
van de Warrenburg BP, Knoers NV, Kremer HP. [Friedrich's Ataxia: Clinical Difficulties and Genetic Possibilities]. Ned Tijdschr Geneeskd. 2002 Sep 7;146(36):1669-72. PubMed PMID: 12244768.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Friedrich's ataxia: clinical difficulties and genetic possibilities]. AU - van de Warrenburg,B P C, AU - Knoers,N V A M, AU - Kremer,H P H, PY - 2002/9/25/pubmed PY - 2002/12/13/medline PY - 2002/9/25/entrez SP - 1669 EP - 72 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 146 IS - 36 N2 - Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2 women aged 32 and 37, who had features that included an onset of ataxia after the age of 25, retained tendon reflexes or hyperreflexia, absence of Babinski's sign, and/or a slowly progressive course. Friedreich's ataxia is the most frequent autosomal recessive cerebellar ataxia. Classical characteristics of the disease are a progressive cerebellar ataxia with an onset before the age of 25, loss of lower extremity tendon reflexes, and bilateral Babinski's sign. However, DNA-diagnostic testing based upon the detection of expanded GAA-repeats in the X25-gene, has shown that the clinical spectrum is broader than was previously assumed. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/12244768/[Friedrich's_ataxia:_clinical_difficulties_and_genetic_possibilities]_ DB - PRIME DP - Unbound Medicine ER -