NR AUYR
AU Rogaeva,E.; Zadikoff,C.; Ponesse,J.; Schmitt-Ulms,G.; Kawarai,T.; Sato,C.; Salehi-Rad,S.; St George-Hyslop,P.; Lang,A.E.
TI Childhood onset in familial prion disease with a novel mutation in the PRNP gene
QU Archives of Neurology 2006 Jul; 63(7): 1016-21
PT case reports; journal article
AB 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.
MH Adolescent; Adult; Age of Onset; Amyloid/*genetics; Base Sequence; DNA Mutational Analysis; Family Health; Female; Humans; Male; Molecular Sequence Data; Pedigree; *Point Mutation; Prion Diseases/*genetics; Protein Precursors/*genetics; Research Support, Non-U.S. Gov't
AD Centre for Research in Neurodegenerative Diseases, Department of Medicine, Toronto, Ontario, Canada.
SP englisch
PO USA