Cerebral Amyloid Angiopathy

Clinical Characteristics
Ocular Features: 

Posterior polar cataracts appear during the third decade of life.

Systemic Features: 

Progressive hearing loss has its onset in the third decade and becomes severe in the 5th decade.  Progressive dementia, often in the form of paranoid psychosis, begins about age 50.  Cerebellar ataxia and intention tremor have their onset in midlife.  There is a diffuse atrophy throughout the brain and cranial nerves are demyelinated.  Blood vessels throughout the CNS, spinal cord and retina show an amyloid angiopathy.  Intracranial hemorrhage is a significant risk and, when lobar in location, carries a significant risk of mortality within months.  Death generally occurs in the 5th and 6th decades of life.

Genetics

Pedigree patterns in the few reported families are consistent with autosomal dominant inheritance.  A mutation has been found in the ITM2B gene located at 13q14.

Treatment
Treatment Options: 

No treatment is available.

References
Article Title: 

Heredopathia ophthalmo-oto-encephalica

Stromgrem, E. Heredopathia ophthalmo-oto-encephalica. In: Myrianthopoulos, N.C. Handbook of Clinical Neurology. Neurogenetic directory. New York: Elsevier/North Holland (pub.) 42, Part I: 150-152, 1981.

References

Jamieson EI, Newman D, Metcalf AK, Naguib MF, Saada J, Potter JF, Myint PK. Dementia is strongly associated with 90-day mortality in lobar cerebral amyloid angiopathy related intra-cerebral haemorrhage. J Neurol Sci. 2012 Aug 7. [Epub ahead of print].

PubMedID: 22883482

Auriel E, Greenberg SM. The Pathophysiology and Clinical Presentation of Cerebral Amyloid Angiopathy. Curr Atheroscler Rep. 2012 May 8. [Epub ahead of print].

PubMedID: 22565298

Vidal R, Revesz T, Rostagno A, Kim E, Holton JL, Bek T, Bojsen-M??ller M, Braendgaard H, Plant G, Ghiso J, Frangione B. A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4920-5.

PubMedID: 10781099

Stromgrem, E. Heredopathia ophthalmo-oto-encephalica. In: Myrianthopoulos, N.C. Handbook of Clinical Neurology. Neurogenetic directory. New York: Elsevier/North Holland (pub.) 42, Part I: 150-152, 1981.

Stromgren E, Dalby A, Dalby MA, Ranheim B. Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome. Acta Neurol Scand. 1970;46:Suppl 43:261+.

PubMedID: 5457846