Basal Ganglia Calcification, Idiopathic, 1 (IBGC1)

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OMIM 57 213600 MedGen 42 C0393590 C3281142 MeSH 44 D001480 D002114

SNOMED-CT via HPO 69 263681008 165232002 271611007 103606006 69322001 21061000119107 35489007 78667006 128613002 246545002 313307000 84757009 91175000 8011004 22325002 32798002 26079004 86854008 199612005 22033007 302215000 415116008 16046003 399317006 271700006 23133003 80515008 44913001 58593005 386807006 55533009 17944005 252157006 255314001 14648003 413921009 64634000 95735008 more UMLS 73 C0393590

OMIM : ⁵⁷ Familial idiopathic basal ganglia calcification is an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Patients with calcifications can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase, and parathyroid hormone are normal. The typical age at clinical onset is between 30 and 50 years (summary by Wang et al., 2012). Calcification of the basal ganglia is a nonspecific finding in many medical conditions, including infectious, metabolic, and genetic syndromes. In addition, calcification of the basal ganglia is observed as an incidental finding in approximately 0.7 to 1.2% of CT scans (Koller et al., 1979; Harrington et al., 1981; Forstl et al., 1992). These incidental calcifications are usually benign and have no clear etiology, especially in patients over 60 years of age (Geschwind et al., 1999). Forstl et al. (1992) found no increased risk for dementia, cerebral infarction, seizures, alcoholism, vertigo, or headache in 166 patients with calcification of the basal ganglia compared to 622 individuals without calcification. (213600)

MalaCards based summary : Basal Ganglia Calcification, Idiopathic, 1, also known as ibgc1, is related to basal ganglia calcification, idiopathic, childhood-onset and primary familial brain calcification, and has symptoms including tremor, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Basal Ganglia Calcification, Idiopathic, 1 is SLC20A2 (Solute Carrier Family 20 Member 2). Affiliated tissues include brain, cortex and eye, and related phenotypes are depressivity and seizures

NINDS : ⁵⁴ Fahr's Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahr's Syndrome can also include symptoms characteristic of Parkinson's disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.

UniProtKB/Swiss-Prot : ⁷⁵ Basal ganglia calcification, idiopathic, 1: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Wikipedia : ⁷⁶ Idiopathic basal ganglia calcification, also known as Fahr disease, is a rare,genetically dominant,... more...

Clinical features from OMIM:

213600

Search Clinical Trials , NIH Clinical Center for Basal Ganglia Calcification, Idiopathic, 1

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