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GTR Home > Conditions/Phenotypes > Idiopathic basal ganglia calcification 1

Idiopathic basal ganglia calcification 1

Synonyms
Basal ganglia calcification, idiopathic, 3; Cerebral calcification nonarteriosclerotic idiopathic adult-onset; Fahr disease, familial (formerly); Fahr's syndrome; Familial Idiopathic Basal Ganglia Calcification; Familial Idiopathic Basal Ganglia Calcification 2; Familial Idiopathic Basal Ganglia Calcification 3; Ferrocalcinosis, cerebrovascular; Primary Familial Brain Calcification 1; Primary Familial Brain Calcification 2; Primary Familial Brain Calcification 3; Striopallidodentate calcinosis autosomal dominant adult-onset

Summary

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Eliana Marisa Ramos
Joao Oliveira
Maria J Sobrido
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Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis, PDGFB
    Summary: platelet derived growth factor subunit B

  • Also known as: CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT, PDGFRB
    Summary: platelet derived growth factor receptor beta

  • Also known as: GLVR-2, GLVR2, IBGC1, IBGC2, IBGC3, MLVAR, PIT-2, PIT2, RAM1, Ram-1, SLC20A2
    Summary: solute carrier family 20 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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