Acta Scientific Neurology (ASNE) (ISSN: 2582-1121)

Case Report Volume 7 Issue 4

Case Report- An Underreported Genetic Cause of Dementia- Familial CJD

Neetika Sharma*

Neurologist, Chandigarh, India

*Corresponding Author: Neetika Sharma, Neurologist, Chandigarh, India.

Received: January 25, 2024; Published: March 08, 2024


A 59-year-old male with no comorbidity having a significant family history of similar symptomatology and demise, presented with ataxia for the last 1 year, tremors for the last 3 months, and one month of myoclonic jerks and cognitive decline. He had no headache, seizures, visual disturbance, constitutional symptoms, and toxin exposure. His 4 family members passed away in the 5th- 6th decade of life who had similar symptoms but did not seek any medical advice, and died within 1-2 years of disease onset. This patient was brought to medical attention and was worked up thoroughly. All metabolic and biochemical parameters were normal. CSF analysis showed mildly raised proteins and cells. CSF 14-3-3 levels were found to be raised by the immunoblot method. MRI changes were suggestive of CJD. EEG showed theta range slowing with no periodic discharges. Family members were advised for genetic analysis and counseled regarding the disease and risk of involvement of future generations but they were not willing for genetic workup and the patient was started on supportive therapy. There are case reports of sporadic CJD in literature but this highlights the familial CJD which was undiagnosed for years and family members continue to suffer from illness and finally succumb to it.

 Keywords: Familial CJD; Ataxia; Dementia; Myoclonus


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Citation: Neetika Sharma. “Case Report- An Underreported Genetic Cause of Dementia- Familial CJD”. Acta Scientific Neurology 7.4 (2024): 04-06.


Copyright: © 2024 Neetika Sharma. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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