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Ann Indian Acad Neurol. 2019 Apr-Jun;22(2):225-227. doi: 10.4103/aian.AIAN_441_18.

Familial Creutzfeldt-Jakob Disease: The First Reported Kindred from South-East Asia.

Author information

1
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
2
Department of Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.
3
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.

Abstract

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion disease that is caused by abnormally folded proteins and is clinically characterized by rapidly progressive cognitive decline, gait abnormalities, and myoclonus. Familial CJD is very rare and is described only in few families around the world. We report a case with rapidly progressive cognitive decline, ataxia, and myoclonus, with a history of several members of his family developing similar symptoms and succumbing to it. Clinical presentation and neuroimaging were suggestive of CJD. On genetic analysis, our index case and two of his family members (younger brother and younger son) were found to have D178N mutation in PRNP gene. The polymorphism of the 129th amino acid was V/V. We report the first kindred familial CJD from South-East Asia with genetically proven D178N-129V haplotype.

KEYWORDS:

Creutzfeldt–Jakob disease; PRNP gene; familial; prion

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