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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease

Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease Abstract Claes et al1 published an interesting article in the August 1995 Archives. They used a list of symptoms to screen the medical records of patients with Huntington's disease (HD) to document the clinical symptoms and correlate them with the (CAG) trinucleotide repeat length. However, they did not consider the presence of epilepsy in their patients. Epilepsy, although rare in adult patients, is found in a considerable percentage (to 40%) of cases with childhood or juvenile cases of HD.2 In these patients it might present with the symptoms of progressive myoclonus epilepsy (PME).3-5 We describe siblings with differing HD manifestations: The index patient (P) presented with PME and the akinetic-rigid variant and had disease onset of 17 years. One sister (S2) with the same age of onset also presented with choreatic symptoms at the age of 24 years. The (CAG) trinucleotide repeat analysis showed the largest expansion in References 1. Claes S, Van Zand K, Legius E, et al. Correlations between triplet repeat expansion and clinical features in Huntington's disease . Arch Neurol . 1995;52:749-753.Crossref 2. Bruyn GW, Went LN. Huntington's chorea . In: PJ Vinken, GW Bruyn, HL Klawans, eds. Handbook of Clinical Neurology . 5th rev. Amsterdam, the Netherlands: Elsevier Science Publishers: 1986;49:267-313. 3. Garrel S, Joannard A, Feuerstein J, Serre F. Formes myocloniques de la chorée de Huntington . Rev EEG Neurophysiol . 1978;8:123-128. 4. Jarvis GA. Huntington's chorea in childhood . Arch Neurol . 1963;9:244-257.Crossref 5. Brekovic SJ, Andermann F, Carpenter L, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis . N Engl J Med . 1986;315:296-305.Crossref 6. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubropallidolysian atrophy (DRPLA) . Nat Genet . 1994;6:9-13.Crossref 7. Nagafuchi S, Yanagisawa H, Sato K, et al. Expansion of an unstable trinucleotide on chromosome 12q in dentatorubral pallidoluysian atrophy . Nat Genet . 1994;6:14-18.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease

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Publisher
American Medical Association
Copyright
Copyright © 1996 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1996.00550080020003
Publisher site
See Article on Publisher Site

Abstract

Abstract Claes et al1 published an interesting article in the August 1995 Archives. They used a list of symptoms to screen the medical records of patients with Huntington's disease (HD) to document the clinical symptoms and correlate them with the (CAG) trinucleotide repeat length. However, they did not consider the presence of epilepsy in their patients. Epilepsy, although rare in adult patients, is found in a considerable percentage (to 40%) of cases with childhood or juvenile cases of HD.2 In these patients it might present with the symptoms of progressive myoclonus epilepsy (PME).3-5 We describe siblings with differing HD manifestations: The index patient (P) presented with PME and the akinetic-rigid variant and had disease onset of 17 years. One sister (S2) with the same age of onset also presented with choreatic symptoms at the age of 24 years. The (CAG) trinucleotide repeat analysis showed the largest expansion in References 1. Claes S, Van Zand K, Legius E, et al. Correlations between triplet repeat expansion and clinical features in Huntington's disease . Arch Neurol . 1995;52:749-753.Crossref 2. Bruyn GW, Went LN. Huntington's chorea . In: PJ Vinken, GW Bruyn, HL Klawans, eds. Handbook of Clinical Neurology . 5th rev. Amsterdam, the Netherlands: Elsevier Science Publishers: 1986;49:267-313. 3. Garrel S, Joannard A, Feuerstein J, Serre F. Formes myocloniques de la chorée de Huntington . Rev EEG Neurophysiol . 1978;8:123-128. 4. Jarvis GA. Huntington's chorea in childhood . Arch Neurol . 1963;9:244-257.Crossref 5. Brekovic SJ, Andermann F, Carpenter L, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis . N Engl J Med . 1986;315:296-305.Crossref 6. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubropallidolysian atrophy (DRPLA) . Nat Genet . 1994;6:9-13.Crossref 7. Nagafuchi S, Yanagisawa H, Sato K, et al. Expansion of an unstable trinucleotide on chromosome 12q in dentatorubral pallidoluysian atrophy . Nat Genet . 1994;6:14-18.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Aug 1, 1996

References