Fahr's Syndrome Or Brain Stones, A Rare Neurological Disease

Idiopathic basal ganglia calcification is also known as Fahr’s syndrome.  The disorder a highly uncommon, genetically dominant disease of neurological origins, which is characterized by abnormal calcium deposits in the portions of the brain which control movement.

Common signs and symptoms experienced with Fahr’s syndrome:

These symptoms are some of the things a person may experience with Fahr’s syndrome:

• Motor function deterioration: Involves changes in motor function or abilities.
• Dementia
• Mental retardation
• Spastic paralysis
• Dysarthria (poorly articulated speech)
• Athetosis (involuntary, writhing movements)
• Eye impairments
• Optic atrophy
• Small head
• Round head
• Extrapyramidal disorder (defects in basal ganglia functioning)
• Tremors
• Spasticity (limb stiffness)
• Muscle rigidity
• Mask-like appearance of the face
• Shuffling gait

What are some of the less common signs and symptoms of Fahr’s syndrome?

Some of the most uncommon symptoms of Fahr’s syndrome can include the following:

• Chorea (rapid, jerky, involuntary movements)
• Seizures
• Pill-rolling finger motions
• Dystonia (twisting, repetitive muscle contractions)

What is the age of onset for Fahr’s Syndrome? 

The average age of onset of Fahr’s Syndrome is different for each individual. However, the disease most commonly presents in individuals around the 3^rd and 4^th decade of their life.

What causes Fahr’s Syndrome?

Fahr’s syndrome is most often transmitted as an autosomal dominant trait, but it can also be passed from parent to child through an autosomal recessive trait or it could occur sporadically. A locus at 14q (IBGC1) has been thought to be involved.  A secondary locus has been identified on chromosome 8 and a third on chromosome 2. More study of the disease is needed in order to determine exactly what role genetics plays in the development of Fahr’s syndrome.

How is Fahr’s syndrome inherited?

A person can inherit Fahr’s syndrome as an autosomal recessive trait in which both parents are carriers of the gene.  

How is Fahr’s syndrome diagnosed?

In Fahr’s syndrome, a doctor will have to investigate certain blood and biochemical factors and may perform the following tests to make a proper diagnosis:

• Natural killer cells should be assessed in suspected cases of Fahr’s syndrome, because in patients with the disease, levels will be elevated.
• Levels of urinary cAMP, osteocalcin, serum lactic acid and creatinine should be tested at resting levels and after exercising.
• Serum levels of magnesium, calcium, alkaline phosphatase, calcitonin and PTH should be tested.
• The Ellisworth Howard test should be performed, an increased level of urinary cAMP would aid in diagnosis.
• An evaluation of viruses, parasites and bacteria should be done.

See Also: Neurologial Disorders In Children

What are the diagnostic criteria for Fahr’s Syndrome?

The diagnostic criterion for Fahr’s Syndrome has changed and is stated as the following:

• Familial history which is consistent with autosomal dominant inheritance
• Bilateral calcification located within the basal ganglia through the use of neuroimaging.  Other areas of the brain could also contain calcifications.
• Progressive neurological dysfunction, which generally includes movement difficulties and possibly neuropsychiatric manifestations. 
• Although the average age of onset normally happens between the ages of 30-40, there are some cases of brain stones being diagnosed in children.
• Absence of biochemical abnormalities and physical features which suggest a mitochondrial, metabolic or systemic disorder

Neurological Signs And Symptoms Of Fahr’s Syndrome

There are a variety of different neurological signs and symptoms present with Fahr’s syndrome. In adults,  loss of consciousness and seizures have been reported with hypothyroid calcification.  Some of the other neurological signs and symptoms of the disease include: gait disorder, dystonia, spasticity, speech impairment, dementia, Parkinsonism, and coma.

In a study performed on rural Bavarian people, 17 Parkinsonism subjects had Fahr’s syndrome, it was reported by the research team that one half of the Fahr’s syndrome patients have neurological symptoms, while another study reported one-third of the patients were found to have them. These statistical findings highlight the prevalence of neurological symptoms will vary in Fahr’s syndrome patients.

How are the symptoms of Fahr’s syndrome managed?

Currently, various treatment protocols to manage Fahr’s syndrome have been attempted in order to achieve remission or stabilization.  Medical science has suggested several approaches based on biological theories and small scale research studies have proposed pharmacological treatment should be administered to improve depression, anxiety and obsessive compulsive disorder. 

Use of Levodopa in people with Parkinsonian features is reportedly poor. Antipsychotic medications may be used in those with psychotic symptoms and behavioral issues.  Other drugs to treat the symptoms of Fahr’s syndrome can include anticonvulsants to control the seizures experienced in those with the disease.  More research studies are needed in order to find the right combination of pharmaceutical management for the symptoms of Fahr’s syndrome.

For the torsion dystonia or wry neck that presents in some people with Fahr’s syndrome, Botox injections in the hyperactive muscles can be beneficial. Other symptoms associated with Fahr’s syndrome include hyperparathyroidism, Vitamin D deficiency and magnesium deficiency; these conditions can be treated through dietary modifications and supplements.

What other diseases or health conditions could be mistaken for Fahr’s syndrome?

There are many medical conditions that may appear like Fahr’s syndrome, which can make the condition very difficult to diagnose properly.  Fahr’s syndrome may be diagnosed as any of the following:

• Human worm infestation
• Unknown stroke
• Dementia
• Mild traumatic brain injury
• Migraines
• Vitamin B12 deficiency

Can Fahr’s syndrome be cured?

Unfortunately, there is no cure for Fahr’s syndrome nor is there any standard course of treatment for the condition. However, there are medications a doctor can prescribe to reduce the severity of symptoms a person experiences.  Through early diagnosis and proper treatment, a person may alleviate the more severe symptoms of Fahr’s disease and have a better quality of life overall.

See Also: Active Brain Keeps Dementia Away

What is the prognosis for Fahr’s syndrome?

Making an accurate clinical diagnosis of Fahr’s syndrome requires a combination of clinical features, brain imaging scans and the exclusion of other causes of brain calcification.  

Treatment which targets symptomatic support and alleviation and early diagnosis are the main components which will determine the quality of life a person will have.

Conclusion

Though Fahr’s syndrome is rare and idiopathic in nature, with proper knowledge of the clinical manifestations and a more vigilant approach to treatment, a diagnosis can be made early.  More ongoing research is required in order to locate and understand the genetics surrounding the disorder.  Finding the exact genes that play a role in the development of Fahr’s syndrome could lead to effective ways to prevent and treat the condition.