Early onset Huntington disease: a neuronal degeneration syndrome.

Sara Seneca, Dominique Fagnart, Kathelijn Keymolen, Willy Lissens, Danielle Hasaerts, Sarah Debulpaep, B. Desprechins, Ingeborg Liebaers, Linda De Meirleir

Onderzoeksoutput: Articlepeer review

44 Citaten (Scopus)

Samenvatting

Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15 gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20 years of age. In adults, HD is mainly characterised by involuntary movements, personality changes and dementia. By contrast, in children a dominant picture of bradykinesia, rigidity, dystonia and epileptic seizures is noticed. The earlier onset is often associated with a paternal transmission of the disease allele to the offspring. We report here a rather unusual infantile onset of the disease in a little girl who presented with a history of seizures and psychomotor regression starting at the age of 3 years. A progressive cortical-subcortical atrophy, progressive cerebellar atrophy and lesions in the basal ganglia were found on MRI. An important expansion, of 214 triplet numbers, of the CAG repeat size associated with HD, was observed. Conclusion: Juvenile Huntingdon disease should be considered in children suffering from a progressive neurodegenerative disease.
Originele taal-2English
Pagina's (van-tot)717-721
Aantal pagina's5
TijdschriftEur J Pediatr
Volume163
Nummer van het tijdschriftDecember
StatusPublished - dec 2004

Bibliografische nota

Eur J Pediatr. 2004 Aug 26

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