Rogaeva Ekaterina, Zadikoff Cindy, Ponesse Jonathan, Schmitt-Ulms Gerold, Kawarai Toshitaka, Sato Christine, Salehi-Rad Shabnam, St George-Hyslop Peter, Lang Anthony E
Centre for Research in Neurodegenerative Diseases, Department of Medicine, Toronto, Ontario, Canada.
Arch Neurol. 2006 Jul;63(7):1016-21. doi: 10.1001/archneur.63.7.1016.
Up to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding PRNP mutations.
To describe the unique clinical and genetic findings in a family of East Indian origin with autosomal dominant inheritance of a novel PRNP mutation.
Detailed neurological examination and sequencing analysis of the MAPT and PRNP genes.
Toronto Western Hospital, Toronto, Ontario.
Five available members of a family of East Indian origin with a rapidly progressive neurodegenerative disorder characterized by dementia, motor decline, and ataxia.
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.
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.
高达15%的朊病毒病病例是由编码PRNP突变的常染色体显性遗传所致。
描述一个具有新型PRNP突变常染色体显性遗传的东印度裔家族的独特临床和基因学发现。
对微管相关蛋白tau（MAPT）基因和PRNP基因进行详细的神经学检查和测序分析。
安大略省多伦多市的多伦多西部医院。
一个东印度裔家族的五名在世成员，患有以痴呆、运动功能减退和共济失调为特征的快速进展性神经退行性疾病。
我们在所有3名临床受累的家族成员中发现了PRNP基因中的一种新型Pro105Thr突变，但在其未受累亲属或正常对照中未发现。虽然6名受累家族成员中有5名具有相对一致的表型和发病年龄（范围为33 - 41岁），但6名患者中有1名在13岁时发病。
在这个患有快速进展性神经退行性疾病的家族中，所有在世的临床受累成员均发现了PRNP基因中的一种新型突变。据我们所知，先证者是迄今为止所描述的最年轻的遗传性朊病毒病患者。
