Skip to content
How It Works
Explore
Ask a Question Resources Pricing
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Sign Up
PubMed This is a summary of 20 peer-reviewed journal articles Updated
Neurology · Primary Familial Brain Calcification

Symptoms and the Day-to-Day Impact of PFBC

At a Glance

Primary Familial Brain Calcification can affect more than movement: people may experience changes in mood, thinking, balance, sleep, headaches, automatic body functions, or seizures. Symptoms vary, so clinicians assess each concern individually rather than relying on brain imaging alone.

While brain calcification is the hallmark of Primary Familial Brain Calcification (PFBC), the way it affects your daily life can vary significantly [1][2]. You may experience movement-related challenges, changes in how you think or feel, or less obvious “non-motor” symptoms like headaches and sleep issues [3][1]. It is important to remember that these symptoms do not always happen at once; in fact, some studies show that nearly 31% of people with clinical symptoms experience only non-motor issues, such as mood or memory changes, without any movement problems at all [1][4]. Always keep in mind that headaches, constipation, and sleep problems have many other causes and should not automatically be attributed to PFBC.

Movement and Physical Challenges

Movement symptoms, often called motor manifestations, are common but present differently for everyone. They often involve the basal ganglia, the part of the brain that coordinates smooth motion [5][6].

  • Parkinsonism: This is one of the most frequently reported movement issues, reported in some cohorts to affect between 12% and 52% of symptomatic individuals depending on the genetic type [7][8]. It often includes bradykinesia (slowness of movement), muscle stiffness, and tremors [9][6].
  • Gait and Balance: You may notice changes in your walking pattern (gait ataxia) or an increased risk of falls [6][10]. Some people, particularly those with a pathogenic variant in the MYORG gene, may also experience significant dysarthria (difficulty speaking clearly) or swallowing challenges [10][3].
  • Involuntary Movements: Other signs include dystonia (involuntary muscle contractions that cause twisting), chorea (irregular, jerky movements), or hand tremors [7][11][12].

Cognitive and Mental Well-being

For many, the first signs of PFBC are not physical but relate to mood and “brain fog.” These symptoms can occur early in the disease course and may exist even if your movement remains normal [4][1].

  • Psychiatric Symptoms: Roughly 31% to 62% of people with symptomatic PFBC report psychiatric challenges in certain study cohorts [13][3]. This most commonly includes anxiety and depression [3]. In some cases, people may experience more intense symptoms like psychosis, which involves hallucinations (seeing or hearing things others don’t) or delusions [3][14].
  • Cognitive Changes: About 45% to 56% of symptomatic individuals notice cognitive shifts in published cohorts [13][3]. This often affects executive function—your ability to plan, organize, and multi-task—while your long-term memory may remain relatively intact [3][15].

Non-Motor and Autonomic Symptoms

Recent research emphasizes that PFBC can affect “behind-the-scenes” body functions. These symptoms are often just as impactful on your quality of life as movement issues [3].

  • Headaches and Sleep: Chronic headaches are a very common complaint, reported by up to 26% of patients in some studies [3][16]. Sleep disturbances, including difficulty staying asleep, are also frequent [3].
  • Autonomic Function: The autonomic nervous system controls automatic processes. People with PFBC may experience constipation (32%), urinary urgency (34%), or lightheadedness when standing up (orthostatic intolerance) [3].
  • Seizures: While less common, some individuals with PFBC may develop epilepsy or experience seizures, which require careful evaluation by a neurologist [17][18].

Understanding the Spectrum

Because symptoms are so diverse, doctors often use specific clinical tracking tools to monitor how you are doing over time (these are not diagnostic tests): You might hear them mention the MoCA (Montreal Cognitive Assessment for memory and thinking), the UPDRS or MDS-UPDRS (Unified Parkinson’s Disease Rating Scale for movement), or the COMPASS-31 (a survey for autonomic symptoms) [19][3]. These tools help your care team look beyond the brain scan to understand how PFBC is actually affecting your daily life, ensuring that each symptom is addressed individually [3][20].

Common questions in this guide

What symptoms can Primary Familial Brain Calcification cause?
PFBC can be associated with movement and balance problems, changes in thinking or mood, headaches, sleep disturbances, automatic-function symptoms, and seizures. The pattern and severity vary from person to person, and some people have mainly non-movement symptoms.
Can PFBC affect mood or memory without causing movement problems?
Yes. Anxiety, depression, changes in thinking, and difficulty with planning or multitasking may occur even when movement is normal. These concerns should be discussed with a clinician rather than assumed to be caused by PFBC.
How can PFBC affect walking, speech, or swallowing?
PFBC may be associated with parkinsonism, slowed movement, stiffness, tremor, gait or balance problems, and falls. Some people, including those with certain gene-related forms, may also develop unclear speech or difficulty swallowing and may benefit from specialist assessment.
How do doctors track PFBC symptoms over time?
Clinicians may use tools such as the MoCA for thinking and memory, the UPDRS or MDS-UPDRS for movement, and COMPASS-31 for automatic-function symptoms. These tools help measure how symptoms change and are not diagnostic tests for PFBC.
Could headaches, poor sleep, or constipation be caused by PFBC?
These symptoms can occur in people with PFBC, but they also have many other possible causes. A clinician should evaluate them individually instead of automatically attributing them to brain calcification.
What therapies may help with PFBC-related daily challenges?
Physical therapy may help address balance or walking problems, while speech-language therapy can support speech and swallowing difficulties. A neurologist or other qualified clinician can help decide which evaluations and services fit your symptoms.

Questions For You

Answer a question to get research tailored to you. Your answers are private.

Get notified when new evidence is published on Bilateral striopallidodentate calcinosis.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Given my current symptoms, should we use standardized tools like the MoCA for cognition or the UPDRS for movement to track my progress over time?
  2. 2.Are my mood or memory concerns typical for PFBC, and can we address them even if I don't have movement-related symptoms?
  3. 3.Could my non-motor symptoms, such as headaches or sleep disturbances, be managed as separate conditions while we monitor my PFBC?
  4. 4.Would I benefit from seeing a specialized therapist, such as a speech-language pathologist for swallowing/speech or a physical therapist for balance?
  5. 5.Based on my specific gene (if known), are there certain symptoms—like gait or autonomic changes—that we should be more proactive in monitoring?

References

References (20)
  1. 1

    Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.

    Balck A, Schaake S, Kuhnke NS, et al.

    Movement disorders : official journal of the Movement Disorder Society 2021; (36(11)):2468-2480 doi:10.1002/mds.28753.

    PMID: 34432325
  2. 2

    Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.

    Zahniser E, Bird TD, Chen DH, et al.

    Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2022; (37(1)):217-225 doi:10.1093/arclin/acab026.

    PMID: 33893476
  3. 3

    Non-Motor Symptoms in Primary Familial Brain Calcification.

    Bonato G, Cimino P, Pistonesi F, et al.

    Journal of clinical medicine 2024; (13(13)) doi:10.3390/jcm13133873.

    PMID: 38999439
  4. 4

    Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

    Nicolas G, Charbonnier C, de Lemos RR, et al.

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015; (168(7)):586-94 doi:10.1002/ajmg.b.32336.

    PMID: 26129893
  5. 5

    Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

    Nicolas G, Charbonnier C, Campion D, Veltman JA

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018; (177(1)):68-74 doi:10.1002/ajmg.b.32605.

    PMID: 29152850
  6. 6

    The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification.

    Mathijssen G, van Valen E, de Jong PA, et al.

    Journal of clinical medicine 2024; (13(3)) doi:10.3390/jcm13030828.

    PMID: 38337525
  7. 7

    Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

    Tadic V, Westenberger A, Domingo A, et al.

    JAMA neurology 2015; (72(4)):460-7 doi:10.1001/jamaneurol.2014.3889.

    PMID: 25686319
  8. 8

    Primary brain calcification: an international study reporting novel variants and associated phenotypes.

    Ramos EM, Carecchio M, Lemos R, et al.

    European journal of human genetics : EJHG 2018; (26(10)):1462-1477 doi:10.1038/s41431-018-0185-4.

    PMID: 29955172
  9. 9

    Primary familial brain calcification presenting with parkinsonism and motor complications caused by a novel SLC20A2 variant: a case report.

    Sun D, Wang Y, Wang J, et al.

    Frontiers in neurology 2024; (15()):1382534 doi:10.3389/fneur.2024.1382534.

    PMID: 39036637
  10. 10

    Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

    Grangeon L, Wallon D, Charbonnier C, et al.

    Brain : a journal of neurology 2019; (142(6)):1573-1586 doi:10.1093/brain/awz095.

    PMID: 31009047
  11. 11

    Brain Calcification and Movement Disorders.

    Kostić VS, Petrović IN

    Current neurology and neuroscience reports 2017; (17(1)):2 doi:10.1007/s11910-017-0710-9.

    PMID: 28097511
  12. 12

    Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.

    Locci S, Bianchi S, De Stefano N, Mignarri A

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(10)):6091-6093 doi:10.1007/s10072-022-06171-z.

    PMID: 35750946
  13. 13

    Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.

    Yang D, Lu Y, Huang H, et al.

    eNeuro 2025; (12(6)) doi:10.1523/ENEURO.0058-25.2025.

    PMID: 40456615
  14. 14

    SLC20A2-Associated Idiopathic Basal Ganglia Calcification-Related Recurrent Psychosis Response to Low-Dose Antipsychotics: A Case Report and Literature Review.

    Uno A, Tamune H, Kurita H, et al.

    Cureus 2020; (12(12)):e12407 doi:10.7759/cureus.12407.

    PMID: 33532164
  15. 15

    XPR1 mutations are a rare cause of primary familial brain calcification.

    Anheim M, López-Sánchez U, Giovannini D, et al.

    Journal of neurology 2016; (263(8)):1559-64 doi:10.1007/s00415-016-8166-4.

    PMID: 27230854
  16. 16

    Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

    Guo XX, Zou XH, Wang C, et al.

    Human mutation 2019; (40(4)):392-403 doi:10.1002/humu.23703.

    PMID: 30609140
  17. 17

    Refractory focal epilepsy in a paediatric patient with primary familial brain calcification.

    Knowles JK, Santoro JD, Porter BE, Baumer FM

    Seizure 2018; (56()):50-52 doi:10.1016/j.seizure.2018.02.001.

    PMID: 29448117
  18. 18

    Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

    Fjaer R, Brodtkorb E, Øye AM, et al.

    European journal of medical genetics 2015; (58(11)):624-8.

    PMID: 26475232
  19. 19

    CT-based Volume Measurement of Brain Calcification Is Related to Clinical Symptoms and Disease Progression in Primary Familial Brain Calcification.

    Snijders BMG, Pierey L, Peters MJL, et al.

    Clinical neuroradiology 2026; (36(2)):431-438 doi:10.1007/s00062-025-01595-4.

    PMID: 41296026
  20. 20

    Progressive Motor and Cognitive Dysfunction in Fahr's Disease: A Clinical Case Report.

    Almutairi MM, Ahmed ZJ, Ahmed MY, et al.

    Cureus 2025; (17(1)):e77969 doi:10.7759/cureus.77969.

    PMID: 39996196

This page is for informational purposes only and does not constitute medical advice. It describes possible PFBC symptoms but cannot interpret your symptoms or replace evaluation by a neurologist or other qualified clinician.