Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Dai, Xiaohua; Gao, Yong; Xu, Zhenping; Cui, Xiaoniu; Liu, Juan; Li, Yulei; Xu, Haibo; Liu, Mugen; Wang, Qing Kenneth; Liu, Jingyu

doi:10.1002/ajmg.b.31102

Cited by 52 publications

(30 citation statements)

References 25 publications

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“…IBGC is often familial and has been reported to have autosomal dominant inheritance linked to chromosomes such as 14q13 (1-3), 2q37 (4), and 8q21.1-q11.23 (5,6). Patients with IBGC often show slow progression from pyramidal symptoms to extrapyramidal involvement, cerebellar ataxia, and cognitive impairment (3,7).…”

Section: Introductionmentioning

confidence: 99%

A Case of Idiopathic Basal Ganglia Calcification Associated with Membranoproliferative Glomerulonephritis

et al. 2011

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Idiopathic basal ganglia calcification (IBGC) is a syndrome in which bilateral cerebral calcification occurs despite the absence of abnormal calcium metabolism. A 17-year-old Japanese female was admitted for investigation of intermittent proteinuria from the age of 12 years. On admission, her blood pressure was 126/60 mmHg and her serum creatinine was 0.8 mg/dL. Although computed tomography revealed bilateral striopallidodentate calcinosis, her level of intelligence and neurological findings were normal, as were the results of endocrine tests including parathyroid hormone. Asymptomatic IBGC was diagnosed. Renal biopsy showed membranoproliferative glomerulonephritis. Peritoneal dialysis was started for end-stage renal failure when she was 24 years old. Pyramidal and extrapyramidal signs started to develop at the age of 27 years and progressed, resulting in death from aspiration pneumonia at the age of 32 years. Post-mortem revealed bilateral calcification of the basal ganglia, dentate nucleus, thalamus, and centrum semiovale. On light microscopy, there was circumferential calcification of the media and intima of affected vessels in the brain, including small arteries, small veins, and capillaries, and luminal narrowing was seen. On electron microscopy, layers of differing electron density were arranged in concentric laminae. This is the first report of IBGC with bilateral and symmetrical cerebral calcification accompanied by membranoproliferative glomerulonephritis resulting in end-stage renal failure.

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Section: Introductionmentioning

confidence: 99%

A Case of Idiopathic Basal Ganglia Calcification Associated with Membranoproliferative Glomerulonephritis

et al. 2011

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“…Patients II-4 committed suicide. Patients with IBGC may have severe neuropsychiatric problems, including depression [1,5,6], and we could not exclude the possibility that this suicide was an expression of psychiatric problems associated with IBGC.…”

Section: Resultsmentioning

confidence: 99%

“…More than 30 families with IBGC have been described, usually following an autosomal dominant pattern of inheritance [2]. Results of linkage analyses suggested genetic heterogeneity of the disorder, linkage being identified to a locus on chromosome 14q (assigned as IBGC1) [3], chromosome 2q37 (IBGC2) [4], and chromosome 8p21.1-q11.23 (IBGC3) [5].…”

Section: Introductionmentioning

confidence: 99%

Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification

et al. 2011

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In this study we report clinical and imaging data from a multigenerational Serbian family with idiopathic basal ganglia calcification (IBGC) and exclusion of linkage to chromosome 14q, 2q37 and 8p21.1-q11.23. Fourteen out of 18 family members were personally examined and 11 of them were scanned with computed tomography (CT). CT scans revealed existence of symmetrical calcifications in six family members from three generations (four symptomatic and two asymptomatic). Age at onset of clinical symptoms varied between 22.0 and 55.4 years. The main clinical findings included parkinsonism, severe gait disturbances with freezing of gait, and dyskinesia. Hyperechogenicities identified by transcranial sonography corresponded well to the CT images of hyperintense calcifications in the same structures, whereas brain perfusion single photon emission computed tomography demonstrated predominant hypoperfusion in the frontal cortex and the basal ganglia. After exclusion of linkage to known loci, our pedigree with IBGC further demonstrates locus heterogeneity in this disorder. Analysis of clinically affected individuals supports observation that the clinical features of IBGC appear to be varied both within and between families. The age at onset of the clinical symptoms appeared to be decreasing in two observed transmissions, suggestive of possible genetic anticipation.

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“…As mentioned earlier, the presentation of patient in early twenties with recent onset of first episode psychosis with schizophrenia forms symptomatology. In the earlier days there was possibility of diagnosis of a non affective psychosis [16]. The poor response to medication is seen in psychosis related to FD [21].…”

Section: Importance Of Differential Diagnosis In Fahr's Diseasementioning

confidence: 99%

“…Scientists have identified the possible second locus on chromosome 8 and a third on chromosome 2. [15][16][17]. Symptoms include gradual deterioration of mental function, loss of motor development, spastic paralysis, and athetosis.…”

Section: Introductionmentioning

confidence: 99%

Varied Neuro-Psychiatric Manifestations of Farh's Disease (FD):A Report of Two Cases

Srivastava¹,

Sahi²,

Mehdi³

2014

CMRA

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Fahr's syndrome is relatively rare neuropsychiatric disease characterized by bilateral symmetrical basal ganglia intracranial calcification. This disease has varied neuro psychiatric manifestation ranging from neurological, cognitive, and psychiatric manifestations. Here we are representing two cases. In the first case, a 24-year-old male with Fahr's disease (FD), presenting with schizophrenia like psychosis which was not responding to medication, his neurological examination was normal and CT scan of brain revealed symmetrical large areas and foci of calcification in bilateral basal ganglia. Another case was a 70 year old lady presenting with gradual onset of dementia like features, there were no apparent neurological deficit and CT scan brain revealed bilateral basal ganglia calcification. Both the cases on screening did not reveal any evidence in the other family members. Farh's disease (FD) has pronounced positive brain imaging findings along with neuro psychiatric manifestations. We reported sporadic cases of FDs with its neuropsychology and radiological findings.

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Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Cited by 52 publications

References 25 publications

A Case of Idiopathic Basal Ganglia Calcification Associated with Membranoproliferative Glomerulonephritis

A Case of Idiopathic Basal Ganglia Calcification Associated with Membranoproliferative Glomerulonephritis

Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification

Varied Neuro-Psychiatric Manifestations of Farh's Disease (FD):A Report of Two Cases

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