Objective: To describe the clinical and molecular features of a familial Creutzfeldt-Jakob Disease (fCJD) case in Peru. 

Background: Creutzfeldt – Jakob disease (CJD) is characterized by a rapidly progressive dementia as well as myoclonus, Parkinsonism, or gait disturbances. Up to 10% of CJD cases are familial (fCJD), with an autosomal dominant inheritance pattern caused by mutations in the PRNP gene (Cr 20p12).  fCJD is reported worldwide with higher prevalences among people of Sephardic Jewish, Slovakian and Chilean origin, however there are few reports of fCJD in the rest of Latin America.

Methods: The proband presented to a tertiary care level neurologic hospital in Lima, Peru. Clinical data and neuroimaging were obtained via chart review. After a written informed consent process, a blood sample was obtained for DNA extraction. Genetic analysis was performed by Sanger sequencing.

Results: A 52-year-old Peruvian woman presented with an 11 month history of rapidly progressive cognitive impairment. Her symptoms began at age 51 with memory loss, confabulation, and unusual hoarding behaviors. 5 months later, she was also experiencing progressive aphasia, dysphagia, and postural instability. Of note, the patient’s mother, who was born in Chile, died at 40 years of age from an unknown dementia. On admission, a neurologic examination revealed complete disorientation, and aphasia. Additionally, she had an ataxic gait, dysmetria, generalized myoclonus, and parkinsonism. During her hospitalization she became akinetic and mute, and had several generalized tonic-clonic seizures. She had normal CSF, negative for 14.3.3 protein. Her EEG showed semiperiodic discharge of three-phase waves and high waves and MRI brain showed bilateral hyperintensity in the basal ganglia. Genetic analysis revealed an E200K mutation at the PRNP gene, and is homozygous for methionine (M/M) at the codon 129 polymorphism in prion protein (PrP). Patient died 17 months after disease onset. The patient has 3 children and her brother has Parkinsonism, but no family members have been offered genetic testing for fCJD. 

Conclusions: A complete family history in every rapidly progressive dementia is important for differential diagnosis. The rarity, severity, and incurability of the fCJD phenotype presents a challenge for genetic counseling and management of at risk family members, particularly in a low-resource setting without structured genetic counseling programs. 

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MDS Abstracts - https://www.mdsabstracts.org/abstract/familial-creutzfeldt-jakob-disease-with-an-e200k-mutation-in-peru-a-case-report/