Fahr syndrome symptoms, causes, treatment

The Fahr syndrome it is a pathology of hereditary genetic origin associated with the development of cerebral calcifications. This disorder is mainly characterized by the presence of neurological and psychiatric disorders. Some of them are related to the deterioration of mental functions, motor disorders or behavioral abnormalities.

The specific causes of this disease are not exactly known. Some authors such as Oviedo Gamboa and Zegarra Santiesteban (2012), relate its etiology to a genetic abnormality located on chromosome 14. This produces a bilateral and progressive calcification of various brain areas, especially the ganglia of the base and the cerebral cortex..

The diagnosis of this neurodegenerative disorder is fundamentally based on the use of neuroimaging tests. Normally, the technique of choice is noncontrast computerized axial tomography. There is no cure for Fahr syndrome, nor is there a specific treatment.

A symptomatic and rehabilitative medical approach is usually used. However, the prognosis for people with Fahr syndrome is poor. It is a disease that produces a progressive and disabling deterioration.

Article index

• 1 Characteristics of Fahr syndrome
• 2 Is it a frequent pathology?
• 3 Symptoms
  • 3.1 Neurological disorders
  • 3.2 Psychiatric disorders
• 4 Causes
• 5 Diagnosis
• 6 Treatment
• 7 Medical prognosis
• 8 References

Syndrome characteristics by Fahr

Fahr's disease is a degenerative neurological disorder that will cause a systematic deterioration of cognitive abilities, motor skills or behavior. In addition, it can be accompanied by other complications such as seizures..

In the medical literature, a wide variety of terms are usually used to refer to this disorder: primary familial cerebral calcification, cerebral ferrocalcinosis, Fahr syndrome, cerbrovascular ferrocalcinosis, idiopathic cerebral calcification, etc..

The term Fahr syndrome is usually used in a restricted way to define a clinical picture whose etiology is not clearly defined or is associated with metabolic or autoimmune disorders..

For its part, the term Fahr's disease is used to refer to the disorder caused by a hereditary genetic origin. In both cases, the signs and symptoms are associated with the presence of calcifications in different brain regions.

Is it a frequent pathology?

Fahr's disease is a rare neurological disorder in the general population. It is usually classified within rare diseases.

Epidemiological analyzes associate its incidence with a figure of less than 1 case per million people worldwide. Normally, its prevalence tends to increase with increasing age.

The typical onset of this disease is between the third and fifth decades of life. In addition, two peaks of maximum incidence have been identified:

• Beginning of adulthood: there is a symptomatology characterized by psychiatric disorders.
• From 50-60 years of age: e presents symptoms characterized by cognitive impairment and psychomotor disorders. Psychiatric symptoms, especially affective disorders, are also present in this phase.

Symptoms

Fahr's disease is fundamentally defined by the presence and development of neurological and psychiatric disorders. We will describe some of the most common below:

Neurological disorders

• Muscle hypo / hypertonia: muscle tone is altered in most cases. Significant sagging or stiffness may appear. Voluntary and involuntary movements are often severely reduced.
• Shaking: we can identify the presence of a constant and rhythmic involuntary movement. It especially affects the head, arms, and hands.
• Parkinsonism: tremors and other symptoms may evolve into a clinical picture similar to that of Parkinson's. The most common characteristics are tremor at rest, absence of voluntary movement, muscle stiffness, posture instability, etc..
• Spastic paralysis: the different muscle groups reach a very high muscle tone that prevents any type of movement. This type of paralysis can lead to the development of monoparesis / monoplegia, hemiparesis / hemiplegia, diparesis / diplegia, tetraparesis / tetraplegia.
• Athetosic paralysis: muscle tone tends to fluctuate persistently leading to the development of involuntary movements and / or primitive reflexes.
• Motor apraxia: presence of a marked difficulty or inability to perform motor activities related to a previous planning process (sequences, objective / goal, instruction, etc.).
• Convulsive crisis: the development of episodes of muscle spasms and contractions or motor agitation associated with an abnormal and synchronous neuronal activity is frequent. Episodes of temporary loss of consciousness or perception of abnormal perceptual sensations (light stimuli, tingling, etc.) may also appear..
• Cognitive deficit: the most characteristic feature of patients affected by Fahr syndrome is the progressive deterioration of mental abilities. The most common is to observe an attentional compromise, reduced processing speed, spatio-temporal disorientation or memory problems. This condition is commonly referred to as a pseudo-insane process..
• Language disordersPatients start out with difficulty keeping the thread of a conversation, finding the right words, or articulating language. This type of anomaly can progress towards a partial or total communicative isolation.

Psychiatric disorders

• Behavioral disorders: altered behavior patterns often appear. These are fundamentally characterized by the presence of repetitive activities and stereotyped behaviors. Affected people often carry out the same types of activities persistently. In addition, they exhibit incoherent or inappropriate behavior to contextual situations..
• Personality changes: the personality traits of the affected person are often distorted and lead to emotional lability, irritability, lack of initiative, demotivation, social isolation, anxiety.
• Psychosis: a significant loss of contact with reality appears. Obsessions, false beliefs, delusions or hallucinations are usually observed.
• Turmoil crisis- Bouts of aggression, motor agitation, restlessness, nervousness, disorganized speech or euphoria may develop.
• Depression: some or several symptoms related to depressive disorder may appear such as hopelessness, sadness, irritability, loss of interest, constant fatigue, difficulty concentrating, sleep disorders, thoughts of death, headache, etc..

Causes

Authors such as Lacoma Latre, Sánchez Lalana and Rubio Barlés (2016) define Fahr's disease as a syndrome of undetermined or unknown etiology that is associated with the development of bilateral calcifications in different brain regions.

However, others such as Cassani-Miranda, Herazo-Bustos, Cabrera-González, Cadena-Ramos and Barrios Ayola (2015), refer to a hereditary genetic origin that occurs without the incidence of other types of infectious, traumatic, toxic factors, biochemical or systemic.

Its origin is related to a genetic alteration located on chromosome 14 (Oviedo Gamboa and Zegarra Santiesteban, 2012) and associated with the SLC20A2 gene.

This gene is primarily responsible for providing biochemical instructions for the manufacture of a type of protein. It has an essential role in the organic regulation of phosphate levels, among other functions.

Some clinical studies, such as that of Wang et al. (2012) have associated mutations in the SLC20A2 gene and the clinical course of Fahr syndrome in various families.

Additionally, other types of genetic abnormalities related to Fahr syndrome have been identified: mutations in the PDGF and PDGFRB gene.

Diagnosis

The diagnosis of Fahr's disease requires the combination of a neurological and psychiatric examination. In the case of the neurological examination, the fundamental intervention is based on the performance of a computerized tomography.

This type of neuroimaging technique allows us to identify the presence and location of brain calcifications. Neuropsychological evaluation is essential to specify the full spectrum of cognitive and psychomotor disturbances and abnormalities.

The type of neuropsychological tests that can be used is broad, usually depending on the choice of the professional. Some of the most used are: Wechler Intelligence Scale for adults (WAIS), Rey's Complete Figure, Stroop Test, TMT Trace Test, etc..

In addition, all this evaluation is accompanied by a psychological and psychiatric evaluation to identify alterations related to mood, perception of reality, behavior patterns, etc..

Treatment

There is still no cure for Fahr syndrome.

Basic medical interventions are directed towards the treatment of medical symptoms and complications: pharmacological treatment of seizures, cognitive rehabilitation of impaired mental abilities, or physical rehabilitation of motor complications.

Although there are experimental therapies, they do not usually report significant benefits.

Medical prognosis

The cognitive, physical and functional decline is exponential. This disease usually progresses towards total dependence and the inevitable death of the affected person.

References

1. ADCO. (2016). Hypercalcemia. Obtained from American Society of Clinical Oncology.
2. Cossani-Miranda, C., Herazo-Bustos, M., Cabrera-González, A., Cadena-Ramos, I., & Barrios-Ayola, F. (2015). Psychosis associated with Fahr syndrome: a case report. Rev Colom Psiquiat.
3. Gómez Giraldo, C. (2016). Hypercalcemia and Hypocalcemia.
4. Lacoma Latre, E., Sánchez Lalana, E., & Rubio Barlés, P. (2016). Fahr's disease. Diagnostic Image.
5. NIH. (2016). Fahr's Syndrome. Obtained from National Institute of Neurologica Disorders and Stroke.
6. NIH. (2016). SLC20A2. Obtained from Genetics Home Reference.
7. NORD. (2016). Primary Familial Brain Calcification. Obtained from National Organization for Rare Disorders.
8. Saleem et al.,. (2013). Fahr's syndrome: literature review of current evidence. Orphanet Journal of Rare Diseases.