Article

Familial Calcification of the Basal Ganglions

New England Journal of Medicine (Impact Factor: 54.42). 08/1971; 285(2):72-7. DOI: 10.1056/NEJM197107082850202
Source: PubMed
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    • "Diagnostic criteria of Fahr's syndrome has been modified and derived from Moskowitz et al. 1971, Ellie et al. 1989, Manyam 2005 [3] [15] [16] and it can be stated as follows: "
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    ABSTRACT: Fahr's disease or Fahr's syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus. Molecular genetics of this disease haven't been studied extensively; hence evidence at the molecular and genetic level is limited. Fahr's disease commonly affects young to middle aged adults. Etiology of this syndrome does not identify a specific agent but associations with a number of conditions have been noted; most common of which are endocrine disorders, mitochondrial myopathies, dermatological abnormalities and infectious diseases. Clinical manifestations of this disease incorporate a wide variety of symptoms, ranging from neurological symptoms of extrapyramidal system to neuropsychiatric abnormalities of memory and concentration to movement disorders including Parkinsonism, chorea and tremors amongst others. Diagnostic criteria for this disease has been formulated after modifications from previous evidence and can be stated briefly, it consist of bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic or toxic cause and a significant family history. Imaging modalities for the diagnosis include CT, MRI, and plain radiography of skull. Other investigations include blood and urine testing for hematologic and biochemical indices. Disease is as yet incurable but management and treatment strategies mainly focus on symptomatic relief and eradication of causative factors; however certain evidence is present to suggest that early diagnosis and treatment can reverse the calcification process leading to complete recovery of mental functions. Families with a known history of Fahr's disease should be counseled prior to conception so that the birth of affected babies can be prevented. This review was written with the aim to remark on the current substantial evidence surrounding this disease.
    Orphanet Journal of Rare Diseases 10/2013; 8(1):156. DOI:10.1186/1750-1172-8-156 · 3.96 Impact Factor
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    • "The term 'calcification' must be used with caution in this family. There is evidence that in some cases the material is not only calcium, but manganese (Smeyers- Verbeke et al., 1975), magnesium (Bruyn et al., 1964), iron (Moskowitz et al., 1971), and other materials. Treatment with a chelating agent has not been successfully used so far; determination of the chemical nature of the minerals seen on the radiograph is a prerequisite of any possible therapy. "
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    ABSTRACT: Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.
    Journal of Neurology Neurosurgery & Psychiatry 04/1977; 40(3):280-5. DOI:10.1136/jnnp.40.3.280 · 5.58 Impact Factor
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    ABSTRACT: Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37.
    Journal of Molecular Neuroscience 11/2009; 39(3):346-353. · 2.76 Impact Factor
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