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  Vol. 63 No. 7, July 2006 TABLE OF CONTENTS
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Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

Ekaterina Rogaeva, PhD; Cindy Zadikoff, MD; Jonathan Ponesse, MD; Gerold Schmitt-Ulms, PhD; Toshitaka Kawarai, MD; Christine Sato, BSc; Shabnam Salehi-Rad, BSc; Peter St. George-Hyslop, MD, FRCPC; Anthony E. Lang, MD

Arch Neurol. 2006;63:1016-1021.

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.


Author Affiliations: Centre for Research in Neurodegenerative Diseases (Drs Rogaeva, Schmitt-Ulms, Kawarai, and St. George-Hyslop and Mss Sato and Salehi-Rad) and Division of Neurology (Drs Rogaeva, St. George-Hyslop, and Lang), Department of Medicine, and Toronto Western Hospital Research Institute, Movement Disorders Centre, Toronto Western Hospital (Drs Zadikoff, St. George-Hyslop, and Lang), University of Toronto, and Divisions of Neurology and Developmental Pediatrics, Hospital for Sick Children (Dr Ponesse), Toronto, Ontario.







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