• Ekaterina Rogaeva, Cindy Zadikoff, Jonathan Ponesse, Gerold Schmitt-Ulms, Toshitaka Kawarai, Christine Sato, Shabnam Salehi-Rad, Peter St George-Hyslop, and Anthony E Lang.
• Centre for Research in Neurodegenerative Diseases, Department of Medicine, Toronto, Ontario, Canada.
• Arch Neurol Chicago. 2006 Jul 1;63(7):1016-21.

BackgroundUp to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding PRNP mutations.ObjectiveTo describe the unique clinical and genetic findings in a family of East Indian origin with autosomal dominant inheritance of a novel PRNP mutation.DesignDetailed neurological examination and sequencing analysis of the MAPT and PRNP genes.SettingToronto Western Hospital, Toronto, Ontario.PatientsFive available members of a family of East Indian origin with a rapidly progressive neurodegenerative disorder characterized by dementia, motor decline, and ataxia.ResultsWe identified a novel Pro105Thr mutation in the PRNP gene in all of the 3 clinically affected family members but not in their unaffected relatives or normal controls. Although 5 of 6 affected family members had a relatively homogeneous phenotype and age at onset (range, 33-41 years), 1 of the 6 patients developed the disease at age 13 years.ConclusionsA novel mutation in the PRNP gene was identified in all of the available, clinically affected members of this family with a rapidly progressive neurodegenerative disease. To our knowledge, the propositus represents the youngest individual with inherited prion disease described to date.

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