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Familial Danish dementia information


Familial Danish dementia
Other namesFDD, ADan amyloidosis, Heredopathia ophthalmootoencephalica, HOOE, ITM2B amyloidosis, Cerebellar ataxia, cataract, deafness, and dementia or psychosis[1]
SpecialtyNeurology
SymptomsCataracts, Deafness, Progressive ataxia, Dementia,[2]
Usual onset20-30 years old[3]
CausesMutations of the BRI2 gene [4]
Diagnostic methodFamily history, symptoms, and genetic testing [4]

Familial Danish dementia is an extremely rare, neurodegenerative disease characterized by progressive cataracts, loss of hearing, cerebellar ataxia, paranoid psychosis, and dementia. Neuropathological hallmarks include extensive atrophy of all areas of the brain, chronic diffuse encephalopathy, and the presence of exceedingly thin and nearly totally demyelinated cranial nerves.[1]

FDD is an autosomal dominant disorder caused by a mutation in the BRI2 gene on chromosome 13.[4] FDD is one of the two types of hereditary, cerebral amyloid angiopathy, alongside familial British dementia.[5]

  1. ^ a b "ADan amyloidosis - About the Disease". rarediseases.info.nih.gov. Retrieved 22 July 2023.
  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. ^ a b c 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. ^ "Hereditary cerebral amyloid angiopathy: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-09-07.

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