Fahr’s disease. Literature review and clinical case observation

Abstract

Calcification of basal ganglia is a radiological finding that is often secondary to a variety of conditions or physiological aging of the brain. According to the literature data, its frequency varies greatly due to the lack of modern large‑scale population studies of the prevalence of calcification, as well as significant aging of the population. Clinical manifestations of basal ganglia calcification are variable. Patterns of neuroimaging findings also differ in clinical case descriptions.Idiopathic basal ganglia calcification (Fahr’s disease) is a disease, caused by mutations of certain genes, that has specific clinical and radiological features. Since it is a rare disease, all conclusions about the disease are based on descriptions of single clinical cases and diagnostic criteria for the disease remain a debatable issue. Nowadays, there is no clear understanding of what basal ganglia calcification can be considered as Fahr’s disease. There are no clear differential diagnostic criteria for the disease, and the described spectrum of genetic mutations is constantly being updated. The most common clinical manifestations of Fahr’s disease, according to literature data, are movement disorders, which are manifested in the form of parkinsonism, chorea, tremor, dystonia, athetosis and orofacial dyskinesia. Other signs include cognitive and psychiatric disorders, cerebellar symptoms, gait disorders, speech disorders, pyramidal signs, sensitive disorders and migraine headaches. Possible approaches to the treatment of this pathology remain debatable.This article presents a review of the literature on idiopathic basal ganglia calcification, describes its genetic features, clinical manifestations, and radiological findings. Differential — diagnostic criteria of the disease according to the current literature data are offered and clinical case observation of the patient with Fahr’s disease is given.