Fahr's disease

Fahr's disease, also known as idiopathic bilateral basal ganglia calcinosis, is a rare degenerative neurological disorder characterized by calcifications and cell loss within the basal ganglia.^[1] The disease was first noted by German neurologist Karl Theodor Fahr in 1930. ^[2]

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Symptoms

Patients with Fahr’s disease often present with movement disorders, such as Parkinson's, paresis, dystonia, and speech impairment. Other neurological features can include stroke-like events, often combined with psychiatric conditions, such as psychosis, mood disorders, and dementia. Although Fahr’s disease appears most commonly with motor deficits, about 40% of the patients with Fahr’s disease are seen with primarily cognitive and other psychiatric findings.^[3]

Fahr’s disease, however, is often differentiated from Fahr’s syndrome, in which basal ganglia calcification is secondary to some other disorder, such as hypoparathyroidism. Fahr’s disease should also be distinguished from incidentally found basal ganglia calcification without associated clinical neuropsychiatric features.^[4]

Pathophysiology

Fahr's Disease is often familial. The familial form may be transmitted as an autosomal recessive trait or, in other affected families, may have autosomal dominant inheritance. In other instances, the condition appears to to be sporadic. Some experts suggest that the condition may sometimes result from an intrauterine infection.^[5]

Treatment

There is no cure for Fahr's disease, nor is there a standard treatment. Case reports have suggested that haloperidol or lithium carbonate may help with psychotic symptoms.^[6]

References

1. ^ http://jnnp.bmj.com/cgi/content/full/75/8/1163
2. ^ T. Fahr: Idiopathische Verkalkung der Hirngefässe. Zentralblatt für allgemeine Pathologie und pathologische Anatomie, 1930-1931, 50: 129-133.
3. ^ http://jnnp.bmj.com/cgi/content/full/75/8/1163
4. ^ http://www.psy.psychiatryonline.org/cgi/content/full/46/6/569
5. ^ http://www.webmd.com/parkinsons-disease/Fahrs-Disease
6. ^ Munir KM. The treatment of psychotic symptoms in Fahr's disease with lithium carbonate. J Clin Psychopharmacol. 1986 Feb;6(1):36-8.

External links

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