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

Abstract

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

References

  1. Imran M and Mahmood S. “An overview of human prion diseases”. Virology Journal 8 (2011): 559.
  2. Zerr I and Schmitz M. “Genetic Prion Disease. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. “GeneReviews”®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022 (2003).
  3. Knight R., et al. “Creutzfeldt Jakob Disease”. Neurodegenerative Disease (2012).
  4. Gambetti disease (Zou W, Parchi P, Chen S. Sporadic and familial CJD”. British Medical Bulletin (2003):
  5. Stoeck K., et al. “Cerebrospinal fluid biomarker supported the diagnosis of Creutzfeldt-Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years”. Brain 135 (2012): 3051-3061.
  6. World Health Organization: Global Surveillance, Diagnosis, and Therapy of Human Transmissible Spongiform Encephalopathies: Report of a WHO Consultation. Geneva: World Health Organization (1998).
  7. Atarashi R., et al. “Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion”. Nature Medicine 17 (2011): 175-178.
  8. Heinemann U., et al. “Brain biopsy in patients with suspected Creutzfeldt-Jakob disease”. Journal of Neurosurgery 109 (2008): 735-741.
  9. Zerr I., et al. “Current clinical diagnosis in Creutzfeldt-Jakob disease: identification of uncommon variants”. Annals of Neurology 48 (2000): 323-329.
  10. Vitali P., et al. “Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias”. Neurology 76 (2011): 1711-1719.
  11. Niewiadomska M., et al. “Impairment of the Peripheral Nervous System in Creutzfeldt-Jakob Disease”. Archives of Neurology9 (2002): 1430-1436.
  12. Manix M., et al. “Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy”. Neurosurgical Focus 5 (2015): E2.

Citation

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

Copyright

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.




Metrics

Acceptance rate32%
Acceptance to publication20-30 days

Indexed In




News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is June 25, 2024.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of "Best Article of the Issue"
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.

Contact US