Familial Danish dementia

Familial Danish Dementia is a rare neurodegenerative disease that is mostly hereditary[4] and resembles Alzheimer's.[5] The condition was first reported in the Djursland peninsula in Denmark.[6]: 163 

Familial Danish dementia
Other names
  • FDD
  • Heredopathia ophthalmootoencephalica
  • HOOE
  • ITM2B amyloidosis
  • Cerebellar ataxia, cataract, deafness, and dementia or psychosis[1]
Symptoms
Usual onset30 years old[3]

It is one of the two types of hereditary cerebral amyloid angiopathy alongside familial British dementia.[7]

The disorder is histopathologically characterized by serve cerebral amyloid angiopathy with neurofibrillary tangle deposition in the limbic system and the neocortex.[8] It is also neuropathologically characterized by diffuse atrophy of cerebellum, cranial nerves, and the spinal cord.[9]

Symptoms and signs

Symptoms like cataracts, deafness, or ataxia appear before age 40.[10]

Cerebellar ataxias appears around age 40.[6]

There is also paranoid psychosis and dementia.[10] Which both occur when the patient reaches their fifties.[11] Although paranoid psychosis which typically develops after age 50.[12]

Hearing impairments

Hearing loss can appear around 40s to 50s.[11] Hearing impairments can also appear as young as age 10 to 20.[13] Severe hearing loss can occur around age 45.[14]

Visual symptoms

Vision problems are one the earliest symptoms of FDD with cataracts usually appear before age 30.[15] The development of cataracts can appear as early as age 20.[6] The median age for visual symptoms is 27.[15]

Other symptoms

Other symptoms include intention tremor, neurofibrillary tangles, spasticity,[16] apathy, hyperorality, early dyscalculia, and stereotyped behavior.[17]

Cerebral amyloid angiopathy in this disorder is severe.[18] CAA is present in all regions of the central nervous system.[19]

Causes

The disorder is caused by autosomal mutations that are inherited.[20]

Such as a mutation in the BRI2 gene on chromosome 13.[21] It is also said to be caused by mutations in CHMP2B.[17]

Mutations in cystatin c have also been suggested to be a cause of the disorder.[22]

Diagnosis

The condition resembles Begger syndrome and Refsum disease.[14]

Prognosis

Most people with this condition die when they reach their fifties or sixties,[4] with the median age of death being 58.[15] They usually die due to complications from pneumonia, diarrhea, and strokes.[14]

Epidemiology

Familial Danish Dementia has been reported in a single family spanning three generations,[10] with there being nine reported cases as of 2014.[6] Males and females are equally affect by the disorder.[15]

References
  1. "Dementia, familial Danish - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov.
  2. Paul, Robert H. (2007-11-17). Vascular Dementia: Cerebrovascular Mechanisms and Clinical Management. Springer Science & Business Media. p. 42. ISBN 978-1-59259-824-3.
  3. Sharma, Pankaj; Meschia, James F. (2012-08-27). Stroke Genetics. Springer Science & Business Media. p. 75. ISBN 978-0-85729-209-4.
  4. Holton, Janice L.; Lashley, Tammaryn; Ghiso, Jorge; Braendgaard, Hans; Vidal, Ruben; Guerin, Christopher J.; Gibb, Graham; Hanger, Diane P.; Rostagno, Agueda; Anderton, Brian H.; Strand, Catherine (March 2002). "Familial Danish Dementia: A Novel Form of Cerebral Amyloidosis Associated with Deposition of Both Amyloid-Dan and Amyloid-Beta". Journal of Neuropathology & Experimental Neurology. 61 (3): 254–267. doi:10.1093/jnen/61.3.254. ISSN 0022-3069. PMID 11895040.
  5. Husain, Masud; Schott, Jonathan M. (2016). Oxford Textbook of Cognitive Neurology and Dementia. Oxford University Press. p. 317. ISBN 978-0-19-965594-6.
  6. Encyclopedia of the Neurological Sciences. Academic Press. 2014-04-29. pp. 163–164. ISBN 978-0-12-385158-1.
  7. "Hereditary cerebral amyloid angiopathy: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-09-07.
  8. MD, Thomas P. Naidich; MD, Mauricio Castillo; MD, Soonmee Cha; MD, James G. Smirniotopoulos (2012-10-31). Imaging of the Brain: Expert Radiology Series. Elsevier Health Sciences. ISBN 978-1-4160-5009-4.
  9. Pantoni, Leonardo; Gorelick, Philip B. (May 2014). Cerebral Small Vessel Disease. Cambridge University Press. p. 87. ISBN 978-1-107-03166-1.
  10. Wahlund, Lars-Olof; Erkinjuntti, Timo; Gauthier, Serge (2009-02-12). Vascular Cognitive Impairment in Clinical Practice. Cambridge University Press. p. 150. ISBN 978-0-521-87537-0.
  11. Larner, Andrew J.; Coles, Alasdair J.; Scolding, Neil J.; Barker, Roger A. (2011-01-19). A-Z of Neurological Practice: A Guide to Clinical Neurology. Springer Science & Business Media. pp. 257–258. ISBN 978-1-84882-994-7.
  12. Holton, Janice L.; Lashley, Tammaryn; Ghiso, Jorge; Braendgaard, Hans; Vidal, Ruben; Guerin, Christopher J.; Gibb, Graham; Hanger, Diane P.; Rostagno, Agueda; Anderton, Brian H.; Strand, Catherine (March 2002). "Familial Danish Dementia: A Novel Form of Cerebral Amyloidosis Associated with Deposition of Both Amyloid-Dan and Amyloid-Beta". Journal of Neuropathology & Experimental Neurology. 61 (3): 254–267. doi:10.1093/jnen/61.3.254. ISSN 0022-3069. PMID 11895040.
  13. Kovacs, Gabor G. (2014-12-04). Neuropathology of Neurodegenerative Diseases Book and Online. Cambridge University Press. p. 255. ISBN 978-1-107-44242-9.
  14. Toriello, Helga V.; Smith, Shelley D. (2013-08-08). Hereditary Hearing Loss and Its Syndromes. OUP USA. p. 489. ISBN 978-0-19-973196-1.
  15. Dickson, Dennis; Weller, Roy O. (2011-09-09). Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. John Wiley & Sons. p. 440. ISBN 978-1-4443-4123-2.
  16. "Dementia, familial Danish | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-09-07.
  17. Husain, Masud; Schott, Jonathan M. (2016). Oxford Textbook of Cognitive Neurology and Dementia. Oxford University Press. pp. 347–348. ISBN 978-0-19-965594-6.
  18. Love, Seth; Louis, David; Ellison, David W. (2008-02-29). Greenfield's Neuropathology Eighth Edition 2-Volume Set. CRC Press. p. 1115. ISBN 978-1-4665-8543-0.
  19. Clark, Leon V. (2004). Trends in Atherosclerosis Research. Nova Publishers. p. 198. ISBN 978-1-59454-046-2.
  20. Amyloidosis: New Insights for the Healthcare Professional: 2012 Edition: ScholarlyBrief. ScholarlyEditions. 2012-12-10. p. 4. ISBN 978-1-4649-7441-0.
  21. Kovacs, Gabor G. (2014-12-04). Neuropathology of Neurodegenerative Diseases Book and Online. Cambridge University Press. p. 254. ISBN 978-1-107-44242-9.
  22. Picken, Maria M.; Herrera, Guillermo A.; Dogan, Ahmet (2015-08-17). Amyloid and Related Disorders: Surgical Pathology and Clinical Correlations. Humana Press. p. 126. ISBN 978-3-319-19294-9.
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