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Basal ganglia calcification, idiopathic, 4(IBGC4)

MedGen UID:
767235
Concept ID:
C3554321
Disease or Syndrome
Synonyms: Familial Idiopathic Basal Ganglia Calcification 4; IBGC4; Primary Familial Brain Calcification 4
 
Gene (location): PDGFRB (5q32)
 
Monarch Initiative: MONDO:0014004
OMIM®: 615007

Disease characteristics

Excerpted from the GeneReview: Primary Familial Brain Calcification
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present. [from GeneReviews]
Authors:
Eliana Marisa Ramos  |  Joao Oliveira  |  Maria J Sobrido, et. al.   view full author information

Additional descriptions

From OMIM
Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).  http://www.omim.org/entry/615007
From MedlinePlus Genetics
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.

The main signs and symptoms of primary familial brain calcification are movement disorders and psychiatric or behavioral problems. These difficulties usually begin in mid-adulthood, and worsen over time. Most affected individuals have a group of movement abnormalities called parkinsonism, which include unusually slow movement (bradykinesia), muscle rigidity, and tremors. Other movement problems common in people with primary familial brain calcification include involuntary tensing of various muscles (dystonia), uncontrollable movements of the limbs (choreoathetosis), and an unsteady walking style (gait).

The severity of primary familial brain calcification varies among affected individuals; some people have no symptoms related to the condition, whereas others have significant movement and psychiatric problems.

Psychiatric and behavioral problems occur in 20 to 30 percent of people with primary familial brain calcification. These problems can include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). Affected individuals may also have difficulty swallowing (dysphagia), impaired speech, headache, episodes of extreme dizziness (vertigo), seizures, or urinary problems.  https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification

Clinical features

From HPO
Bipolar affective disorder
MedGen UID:
2649
Concept ID:
C0005586
Mental or Behavioral Dysfunction
Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.

Professional guidelines

PubMed

Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220

Recent clinical studies

Etiology

Hozumi I, Kurita H, Ozawa K, Furuta N, Inden M, Sekine SI, Yamada M, Hayashi Y, Kimura A, Inuzuka T, Seishima M
J Neurol Sci 2018 May 15;388:150-154. Epub 2018 Mar 8 doi: 10.1016/j.jns.2018.03.014. PMID: 29627011
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group
Am J Med Genet B Neuropsychiatr Genet 2015 Oct;168(7):586-94. Epub 2015 Jun 30 doi: 10.1002/ajmg.b.32336. PMID: 26129893
Kumar KR, Lohmann K, Klein C
Curr Opin Neurol 2012 Aug;25(4):466-74. doi: 10.1097/WCO.0b013e3283547627. PMID: 22772876
Chabot B, Roulland C, Dollfus S
Psychol Med 2001 May;31(4):741-7. doi: 10.1017/s0033291701003762. PMID: 11352376

Diagnosis

Khan AA, AbuAlrob H, Punthakee Z, Shrayyef M, Werfalli RE, Kassem HA, Braga M, Millar A, Hussain S, Iqbal S, Khan T, Paul T, Van Uum S, Young JEM
Endocrine 2021 May;72(2):553-561. Epub 2021 Mar 2 doi: 10.1007/s12020-021-02629-w. PMID: 33655415
Mandal AKJ, Patel NB, Missouris CG
Am J Med Sci 2020 Oct;360(4):406-409. Epub 2020 May 21 doi: 10.1016/j.amjms.2020.05.023. PMID: 32593413
Bonazza S, La Morgia C, Martinelli P, Capellari S
Neurol Sci 2011 Aug;32(4):537-45. Epub 2011 Apr 9 doi: 10.1007/s10072-011-0514-7. PMID: 21479613
Alemdar M, Iseri P, Selekler M, Komsuoğlu SS
Clin Neuropharmacol 2007 Jul-Aug;30(4):241-4. doi: 10.1097/wnf.0b013e31803b9415. PMID: 17762321
Chabot B, Roulland C, Dollfus S
Psychol Med 2001 May;31(4):741-7. doi: 10.1017/s0033291701003762. PMID: 11352376

Therapy

Mandal AKJ, Patel NB, Missouris CG
Am J Med Sci 2020 Oct;360(4):406-409. Epub 2020 May 21 doi: 10.1016/j.amjms.2020.05.023. PMID: 32593413
Abubakar SA, Saidu S
Ann Afr Med 2012 Oct-Dec;11(4):234-7. doi: 10.4103/1596-3519.102855. PMID: 23103923
Bhadada SK, Bhansali A, Upreti V, Subbiah S, Khandelwal N
Neurol India 2011 Jul-Aug;59(4):586-9. doi: 10.4103/0028-3886.84342. PMID: 21891938
Jankovic M, Zmak L, Krajinovic V, Viskovic K, Crnek SS, Obrovac M, Haris V, Jankovic VK
J Infect Chemother 2011 Apr;17(2):264-7. Epub 2010 Aug 28 doi: 10.1007/s10156-010-0110-4. PMID: 20803049
Alemdar M, Iseri P, Selekler M, Komsuoğlu SS
Clin Neuropharmacol 2007 Jul-Aug;30(4):241-4. doi: 10.1097/wnf.0b013e31803b9415. PMID: 17762321

Prognosis

Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group
Am J Med Genet B Neuropsychiatr Genet 2015 Oct;168(7):586-94. Epub 2015 Jun 30 doi: 10.1002/ajmg.b.32336. PMID: 26129893
Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, Ishiura H, Mitsui J, Atsuta N, Sobue G, Shimozawa N, Inuzuka T, Tsuji S, Hozumi I
Neurology 2014 Feb 25;82(8):705-12. Epub 2014 Jan 24 doi: 10.1212/WNL.0000000000000143. PMID: 24463626
Bhadada SK, Bhansali A, Upreti V, Subbiah S, Khandelwal N
Neurol India 2011 Jul-Aug;59(4):586-9. doi: 10.4103/0028-3886.84342. PMID: 21891938
Jankovic M, Zmak L, Krajinovic V, Viskovic K, Crnek SS, Obrovac M, Haris V, Jankovic VK
J Infect Chemother 2011 Apr;17(2):264-7. Epub 2010 Aug 28 doi: 10.1007/s10156-010-0110-4. PMID: 20803049

Clinical prediction guides

Khan AA, AbuAlrob H, Punthakee Z, Shrayyef M, Werfalli RE, Kassem HA, Braga M, Millar A, Hussain S, Iqbal S, Khan T, Paul T, Van Uum S, Young JEM
Endocrine 2021 May;72(2):553-561. Epub 2021 Mar 2 doi: 10.1007/s12020-021-02629-w. PMID: 33655415
El Aoud S, Elleuch M, Charfi N, Hadj Kacem F, Mnif M, Rekike N, Mnif F, Abid M
Tunis Med 2018 Aug-Sep;96(8-9):490-494. PMID: 30430526
Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group
Am J Med Genet B Neuropsychiatr Genet 2015 Oct;168(7):586-94. Epub 2015 Jun 30 doi: 10.1002/ajmg.b.32336. PMID: 26129893
Betsholtz C, Keller A
Brain Pathol 2014 Jul;24(4):387-95. doi: 10.1111/bpa.12158. PMID: 24946076Free PMC Article
Geschwind DH, Loginov M, Stern JM
Am J Hum Genet 1999 Sep;65(3):764-72. doi: 10.1086/302558. PMID: 10441584Free PMC Article

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