Fahr's disease (syndrome)

Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. 

Fahr's disease (syndrome)

Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

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Diagnostic criteria

Diagnostic criteria of Fahr’s syndrome has been modified and derived from Moskowitz et al. 1971, Ellie et al. 1989, Manyam 2005 and it can be stated as follows:

Bilateral calcification of the basal ganglia visualized on neuroimaging. Other brain regions may also be observed.

Progressive neurologic dysfunction, which generally includes a movement disorder and/or neuropsychiatric manifestations. Age of onset is typically in the fourth or fifth decade, although this dysfunction may also present in childhood.

Absence of biochemical abnormalities and somatic features suggestive of a mitochondrial or metabolic disease or other systemic disorder.

Absence of an infectious, toxic, or traumatic cause.

Family history consistent with autosomal dominant inheritance.

Synonyms

Fahr’s disease, Fahr’s syndrome, idiopathic basal ganglia calcification, striopallidodentate calcification and calcinosis nucleorum.

The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55.

There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis.

Karl Theodor Fahr (1877 - 1945), German pathologist.

Karl Theodor Fahr 

Theodor Fahr studied medicine in Giessen, Munich, Berlin, and Kiel, receving his doctorate at the University of Giessen in 1903. His further studies were wih Eugen Bostroem (1850-1926) in Giessen, Morris Simmonds (1855-1925) and Theodor Deneke (1860-) in Hamburg, and with Ilya Ilich Metchnikoff (1845-1916) in Paris. In 1919 he became planmässiger ausserordentlicher professor and 1924 full professor of general pathology and pathological anatomy in Hamburg. His work concerns studies of the heart, vessels, and, in particular, the kidneys.

References

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10.1007/s11739-019-02119-y. Epub 2019 Jun 1. PMID: 31154614.

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(Fahr`s disease). Neurosciences (Riyadh). 2014 Jul;19(3):171-7. PMID: 24983277;

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