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  • Title: Childhood onset in familial prion disease with a novel mutation in the PRNP gene.
    Author: Rogaeva E, Zadikoff C, Ponesse J, Schmitt-Ulms G, Kawarai T, Sato C, Salehi-Rad S, St George-Hyslop P, Lang AE.
    Journal: Arch Neurol; 2006 Jul; 63(7):1016-21. PubMed ID: 16831973.
    Abstract:
    BACKGROUND: Up to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding PRNP mutations. OBJECTIVE: To describe the unique clinical and genetic findings in a family of East Indian origin with autosomal dominant inheritance of a novel PRNP mutation. DESIGN: Detailed neurological examination and sequencing analysis of the MAPT and PRNP genes. SETTING: Toronto Western Hospital, Toronto, Ontario. PATIENTS: Five available members of a family of East Indian origin with a rapidly progressive neurodegenerative disorder characterized by dementia, motor decline, and ataxia. RESULTS: We 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. CONCLUSIONS: A 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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