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Brain Advance Access originally published online on May 6, 2003
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Brain, Vol. 126, No. 7, 1599-1603, July 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg155

Huntington’s disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

Giovanni Stevanin*,1,2, Hiroto Fujigasaki*,1,8, Anne-Sophie Lebre1,2,3, Agnès Camuzat1,2, Cécile Jeannequin1, Catherine Dodé6, Junko Takahashi5,9, Chankranira Sân6, Robert Bellance7, Alexis Brice1,2,3,4 and Alexandra Durr1,2,3,4

1 INSERM U289, 2 Institut Fédératif des Neurosciences, 3 Département de Génétique, Cytogénétique et Embryologie, 4 Fédération de Neurologie and 5 INSERM U106, Groupe Hospitalier Pitié-Salpêtrière AP-HP, 6 Laboratoire de Biochimie et de Génétique Moléculaire, Groupe Hospitalier Cochin Port-Royal AP-HP, Paris, France and 7 Unité de Neuromyologie, Hôpital Pierre Zobda-Quitman, CHU de Fort-de-France, Martinique, French West Indies 8 Present address: Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan 9 Present address: Division of Neuropathology, Jikei University School of Medicine, Minato-ku, Tokyo, Japan *These authors contributed equally to this work

Correspondence to: A. Brice, INSERM U289, Hôpital de la Salpêtrière, 47 Bd de l’Hôpital, 75013 Paris, France E-mail: brice{at}ccr.jussieu.fr

We report a group of 252 patients with a Huntington’s disease-like (HDL) phenotype, including 60 with typical Huntington’s disease, who had tested negative for pathological expansions in the IT15 gene, the major mutation in Huntington’s disease. They were screened for repeat expansions in two other genes involved in HDL phenotypes: those encoding the junctophilin-3 (JPH3/HDL2) and prion (PRNP/HDL1) proteins. In addition, because of the clinical overlap between patients with HDL disease and autosomal dominant cerebellar ataxia or dentatorubral and pallidoluysian atrophy (DRPLA), we investigated trinucleotide repeat expansions in genes encoding the TATA-binding protein (TBP/SCA17) and atrophin-1 (DRPLA). Two patients carried 43 and 50 uninterrupted CTG repeats in the JPH3 gene. Two other patients had 44 and 46 CAA/CAG repeats in the TBP gene. Patients with expansions in the TBP or JPH3 genes had HDL phenotypes indistinguishable from Huntington’s disease. Taking into account patients with typical Huntington’s disease, their frequencies were evaluated as 3% each in our series of typical HDL patients. Interestingly, incomplete penetrance of the 46 CAA/CAG repeat in the TBP gene was observed in a 59-year-old transmitting, but healthy, parent. Furthermore, we report a new configuration of the expanded TBP allele, with 11 repeats on the first polymorphic stretch of CAGs. Expansions in the DRPLA gene and insertions in the PRNP gene were not found in our group of patients. Further genetic heterogeneity of the HDL phenotype therefore exists.


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