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• W2029186522 abstract "<h3>Background</h3> Up to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding<i>PRNP</i>mutations. <h3>Objective</h3> To describe the unique clinical and genetic findings in a family of East Indian origin with autosomal dominant inheritance of a novel<i>PRNP</i>mutation. <h3>Design</h3> Detailed neurological examination and sequencing analysis of the<i>MAPT</i>and<i>PRNP</i>genes. <h3>Setting</h3> Toronto Western Hospital, Toronto, Ontario. <h3>Patients</h3> Five available members of a family of East Indian origin with a rapidly progressive neurodegenerative disorder characterized by dementia, motor decline, and ataxia. <h3>Results</h3> We identified a novel Pro105Thr mutation in the<i>PRNP</i>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. <h3>Conclusions</h3> A novel mutation in the<i>PRNP</i>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." @default.
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• W2029186522 date "2006-07-01" @default.
• W2029186522 modified "2023-10-16" @default.
• W2029186522 title "Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene" @default.
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• W2029186522 doi "https://doi.org/10.1001/archneur.63.7.1016" @default.
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