From the Guidelines
Fahr's disease diagnosis and management should prioritize MRI over CT scans due to its higher sensitivity to basal ganglia iron accumulation and calcium deposition. When it comes to imaging modalities for suspected Fahr's disease, which is characterized by abnormal calcium deposits in the brain, the choice of imaging is crucial for accurate diagnosis and management planning. According to the study published in the Journal of the American College of Radiology in 2020 1, CT scans are not the preferred imaging modality because of their limited sensitivity compared to MRI.
The key characteristics of Fahr's disease include:
- Abnormal calcium deposits in the brain, particularly in the basal ganglia and cerebral cortex
- Symptoms such as movement disorders, cognitive decline, speech difficulties, seizures, and psychiatric manifestations
- Often inherited in an autosomal dominant pattern, with mutations in the SLC20A2 gene being the most common cause
- No specific cure, with treatment focusing on managing symptoms
In terms of management, treatment plans may include:
- Medications like levodopa, anticholinergics, or botulinum toxin injections for movement disorders
- Anticonvulsants for seizures
- Psychiatric medications for psychiatric symptoms
- Monitoring of calcium and vitamin D levels, as abnormalities in calcium metabolism can sometimes be associated with the condition
Given the progressive nature of Fahr's disease, regular follow-up with neurologists and multidisciplinary care is essential to address the progression of symptoms and adjust treatment plans accordingly, as supported by the most recent guidelines and studies 1.
From the Research
Definition and Characteristics of Fahr's Disease
- Fahr's disease, also known as Fahr's syndrome, is a rare neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex 2.
- The calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter, and Dentate Nucleus 2.
- The disease commonly affects young to middle-aged adults and has a wide range of clinical manifestations, including neurological symptoms, neuropsychiatric abnormalities, and movement disorders such as Parkinsonism, chorea, and tremors 2, 3, 4.
Diagnostic Criteria and Imaging Modalities
- The diagnostic criteria for Fahr's disease include bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic, or toxic cause, and a significant family history 2.
- Imaging modalities for diagnosis include CT, MRI, and plain radiography of the skull, with susceptibility-weighted imaging (SWI) being a useful tool for identifying calcifications 3.
- Other investigations include blood and urine testing for hematologic and biochemical indices 2.
Clinical Manifestations and Treatment
- Clinical manifestations of Fahr's disease can vary widely, including movement disorders, cognitive impairment, and ataxia 3, 4.
- The disease is currently incurable, but management and treatment strategies focus on symptomatic relief and eradication of causative factors, with some evidence suggesting that early diagnosis and treatment can reverse the calcification process and lead to complete recovery of mental functions 2.
- Families with a known history of Fahr's disease should be counseled prior to conception to prevent the birth of affected babies 2.