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Basal ganglia calcification, idiopathic, 5(IBGC5)

MedGen UID:
815975
Concept ID:
C3809645
Disease or Syndrome
Synonyms: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
 
Gene (location): PDGFB (22q13.1)
 
Monarch Initiative: MONDO:0014204
OMIM®: 615483

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-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).  http://www.omim.org/entry/615483
From MedlinePlus Genetics
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.

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.

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).

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.  https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification

Clinical features

From HPO
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Athetosis
MedGen UID:
2115
Concept ID:
C0004158
Disease or Syndrome
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
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.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Apathy
MedGen UID:
39083
Concept ID:
C0085632
Mental or Behavioral Dysfunction
Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.
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.
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Hand tremor
MedGen UID:
68689
Concept ID:
C0239842
Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Parkinsonian disorder
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.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
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.
Motor tics
MedGen UID:
199761
Concept ID:
C0751900
Sign or Symptom
Movement-based tics affecting discrete muscle groups.
Thalamic calcification
MedGen UID:
1369051
Concept ID:
C4476561
Finding
Calcium deposition in the thalamus.
Impaired executive functioning
MedGen UID:
1617231
Concept ID:
C4544271
Mental or Behavioral Dysfunction
A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within the cerebrum.
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.
Cerebellar calcifications
MedGen UID:
338697
Concept ID:
C1851431
Finding

Recent clinical studies

Etiology

Ceylan AC, Kireker Köylü O, Özyürek H, Özaydin E, Yön Mİ, Kasapkara ÇS
Acta Neurol Belg 2023 Oct;123(5):1757-1761. Epub 2022 Jul 26 doi: 10.1007/s13760-022-02044-6. PMID: 35881308
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
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
Wu YW, Hess CP, Singhal NS, Groden C, Toro C
Pediatr Neurol 2013 Nov;49(5):351-4. Epub 2013 Aug 19 doi: 10.1016/j.pediatrneurol.2013.06.021. PMID: 23968566
Goswami R, Sharma R, Sreenivas V, Gupta N, Ganapathy A, Das S
Clin Endocrinol (Oxf) 2012 Aug;77(2):200-6. doi: 10.1111/j.1365-2265.2012.04353.x. PMID: 22288727

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
Takase N, Inden M, Sekine SI, Ishii Y, Yonemitsu H, Iwashita W, Kurita H, Taketani Y, Hozumi I
Sci Rep 2017 Jul 18;7(1):5768. doi: 10.1038/s41598-017-06406-6. PMID: 28720798Free PMC Article
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Wu YW, Hess CP, Singhal NS, Groden C, Toro C
Pediatr Neurol 2013 Nov;49(5):351-4. Epub 2013 Aug 19 doi: 10.1016/j.pediatrneurol.2013.06.021. PMID: 23968566
Nicolas G, Guillin O, Borden A, Bioux S, Lefaucheur R, Hannequin D
Gen Hosp Psychiatry 2013 Sep-Oct;35(5):575.e3-5. Epub 2012 Oct 31 doi: 10.1016/j.genhosppsych.2012.09.008. PMID: 23122487

Therapy

Konstantinou G, Stavrinou A, Mylona S, Paschalakis G, Vasilopoulou P
J Psychiatr Pract 2019 Sep;25(5):391-394. doi: 10.1097/PRA.0000000000000410. PMID: 31505526
Wijaya I
Acta Med Indones 2016 Jan;48(1):68-9. PMID: 27241548
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
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
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

Takase N, Inden M, Sekine SI, Ishii Y, Yonemitsu H, Iwashita W, Kurita H, Taketani Y, Hozumi I
Sci Rep 2017 Jul 18;7(1):5768. doi: 10.1038/s41598-017-06406-6. PMID: 28720798Free PMC Article
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
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
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
Fukunaga M, Otsuka N, Ono S, Kajihara Y, Nishishita S, Nakano Y, Yamamoto I, Torizuka K, Morita R
Radiat Med 1987 Nov-Dec;5(6):187-90. PMID: 3452848

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
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
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
Aggarwal S, Kailash S, Sagar R, Tripathi M, Sreenivas V, Sharma R, Gupta N, Goswami R
Eur J Endocrinol 2013 Jun;168(6):895-903. Epub 2013 May 7 doi: 10.1530/EJE-12-0946. PMID: 23482593

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