Chorea Huntington: A Rare Case with Childhood Onset

Abstract

Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an expansion of a polymorphic (CAG)_n stretch in the huntingtin gene. Statistically, larger expansions lead to earlier onset of the disease. We report on a girl with a huntingtin allele of > 140 (CAG)_n repeats. Unspecific neurological symptoms were noted at the age of 4.3 years followed by rapid disease progression with psychomotor deterioration.

Key words

Chorea Huntington - Childhood Onset - Westphal Variant - Polyglutamine Disease

References

• 1 Epplen J T, Gencik M, Epplen A, Andrich J, Saft S, Przuntek H. Morbus Huntington - a human genetic model disease.  Cytogenet Cell Genet. 2000;  91 90-96
• 2 Holzmann C, Saecker A M, Epplen J T, Riess O. Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene.  J Med Genet. 1997;  34 264
• 3 Jervis B W. Huntington's chorea in childhood.  Arch Neurol. 1963;  9 244
• 4 Nance M A, Mathias-Hagen V, Breningstall G, Wick M J, McGlennen R C. Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease.  Neurology. 1999;  52 392-394
• 5 Rasmussen A, Macias R, Yescas P, Ochoa A, Davila G, Alonso E. Huntington disease in children: genotype-phenotype correlation.  Neuropediatrics. 2000;  31 190-194
• 6 Rieß O, Schöls L. Neurogenetik: Molekulargenetische Diagnostik neurologischer Erkrankungen. Berlin; Springer 1998: 223-231
• 7 Sathasivam K, Amaechi I, Mangiarini L, Bates G. Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage.  Hum Genet. 1997;  99 692-695
• 8 Siesling S, Vegter-van der Vlis M, Roos R A. Juvenile Huntington disease in the Netherlands.  Pediatr Neurol. 1997;  17 37-43
• 9 Topper R, Schwarz M, Lange H W, Hefter H, Noth J. Neurophysiological abnormalities in the Westphal variant of Huntington's disease.  Mov Disord. 1998;  13 920-928
• 10 van Dijk J G, van der Velde E A, Roos R A, Bruyn G W. Juvenile Huntington disease.  Hum Genet. 1986;  73 235-239