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  Vol. 53 No. 8, August 1996 TABLE OF CONTENTS
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease

Eugen Trinka, MD; Gernot Luthringshausen, MD; Gunther Ladurner, MD
Neurological Department LNK-Salzburg Ignaz Harrerstraβe 79 5020-Salzburg Austria

Maike Waigell-Weber, MD; Roland Spiegel, MD
Institute for Medical Genetics University of Zürich Zürich, Switzerland

Arch Neurol. 1996;53(8):714-715.

Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]



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