The patient was a 62‐year‐old male who was in a normal state of health until he developed symptoms of dizziness and disequilibrium. Other symptoms included unsteadiness on his feet and numbness in both distal lower and upper extremities. Over the course of 2 weeks his presenting symptoms significantly progressed and he developed an intermittent diplopia. Two months later, the patient began to experience progressive dementia, personality changes, psychosis, progressive ataxia, alien limb, and myoclonus. An extensive neurological workup was performed. An electromyogram (EMG) and nerve conduction study (NCS) revealed a demyelinating peripheral neuropathy with axonal features consistent with Guillain‒Barre Syndrome. The patient had two magnetic resonance imaging (MRI) analyses that were both suggestive of CJD. However, an electroencephalogram (EEG) study was not suggestive of CJD. A sample of CSF was sent to the National Prion Disease Pathology Surveillance Center (NPDPSC) in Cleveland, OH for protein analyses. The sample had a tau level of 5,950, was positive for 14–3–3, and was positive via RT‐QuIC analysis. Brain tissue samples were also analyzed by the NPDPSC and the neuropathological presentation of the patient's brain was consistent with MM(MV)1 (Appleby et al., 2018). In addition, the PrPSc electrophoretic profile was type 1 prion protein (typing based on Parchi et al., 1999). Due to the positive neurological workup and the protein analyses, the patient was diagnosed with CJD (Creutzfeld- Jacob Disease). The patient ultimately succumbed to the disease 3 months after the onset of the initial symptoms. Postmortem genetic analysis on brain biopsy specimen was done at the Center for Human Genetics Laboratory in Cleveland, OH. Genetic analysis identified two variants in the PRNP gene. The well‐characterized c.628G>A (p.Val210Ile aka p.V210I) variant and the rare octapeptide deletion of two repeats [c.202_249del48 (p.P68_Q83del)] were identified in the patient's sample. There was no family history of neurodegenerative disease or other neurologic diseases, including CJD. To our knowledge, no genetic testing for these specific PRNP variants was performed on family members. Therefore, it was unknown if the variants identified were inherited or de novo. The patient previously worked as an electrician and no additional information was known about the patient's life events, including possible exposure history. What is prion disease? Is inherited genetic disease the only cause? What is the biochemical abnormality? What is the treatment?
The patient was a 62‐year‐old male who was in a normal state of health until he developed symptoms of dizziness and disequilibrium. Other symptoms included unsteadiness on his feet and numbness in both distal lower and upper extremities. Over the course of 2 weeks his presenting symptoms significantly progressed and he developed an intermittent diplopia. Two months later, the patient began to experience progressive dementia, personality changes, psychosis, progressive ataxia, alien limb, and myoclonus.
An extensive neurological workup was performed. An electromyogram (EMG) and nerve conduction study (NCS) revealed a demyelinating peripheral neuropathy with axonal features consistent with Guillain‒Barre Syndrome. The patient had two magnetic resonance imaging (MRI) analyses that were both suggestive of CJD. However, an electroencephalogram (EEG) study was not suggestive of CJD. A sample of CSF was sent to the National Prion Disease Pathology Surveillance Center (NPDPSC) in Cleveland, OH for protein analyses. The sample had a tau level of 5,950, was positive for 14–3–3, and was positive via RT‐QuIC analysis. Brain tissue samples were also analyzed by the NPDPSC and the neuropathological presentation of the patient's brain was consistent with MM(MV)1 (Appleby et al., 2018). In addition, the PrPSc electrophoretic profile was type 1 prion protein (typing based on Parchi et al., 1999). Due to the positive neurological workup and the protein analyses, the patient was diagnosed with CJD (Creutzfeld- Jacob Disease).
The patient ultimately succumbed to the disease 3 months after the onset of the initial symptoms. Postmortem genetic analysis on brain biopsy specimen was done at the Center for Human Genetics Laboratory in Cleveland, OH. Genetic analysis identified two variants in the PRNP gene. The well‐characterized c.628G>A (p.Val210Ile aka p.V210I) variant and the rare octapeptide deletion of two repeats [c.202_249del48 (p.P68_Q83del)] were identified in the patient's sample. There was no family history of neurodegenerative disease or other neurologic diseases, including CJD. To our knowledge, no genetic testing for these specific PRNP variants was performed on family members. Therefore, it was unknown if the variants identified were inherited or de novo. The patient previously worked as an electrician and no additional information was known about the patient's life events, including possible exposure history.
- What is prion disease?
- Is inherited genetic disease the only cause?
- What is the biochemical abnormality?
- What is the treatment?
Trending now
This is a popular solution!
Step by step
Solved in 2 steps
