Psychosis revealing familial idiopathic basal ganglia calcification

Nicolas, Gaël; Guillin, Olivier; Borden, Alaina; Bioux, Sandrine; Lefaucheur, Romain; Hannequin, Didier

doi:10.1016/j.genhosppsych.2012.09.008

Cited by 15 publications

(8 citation statements)

References 14 publications

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“…Brains of PFBC patients present bilateral calcifications, affecting basal ganglia, thalamus, and cerebellum . Symptoms of PFBC include parkinsonism, dystonia, chorea, seizures, migraine, dementia, schizophrenia‐like psychosis, and mood symptoms . It is suggested that cognitive and neurological symptoms tend to be predominantly observed in late‐onset PFBC patients …”

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confidence: 99%

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study

Hayashi

Legati

Nishikawa

et al. 2014

Psychiatry Clin Neurosci

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Aims: Primary familial brain calcification (PFBC) is a rare disorder characterized by abnormal deposits of calcium in the basal ganglia and cerebellum. PFBC can present with a spectrum of neuropsychiatric symptoms resembling those seen in dementia and schizophrenia. Mutations in a few genes have been identified as causing PFBC: namely, the SLC20A2 gene that codes for the sodium-dependent phosphate transporter and the PDGFRB gene that codes for the platelet-derived growth factor receptor β (PDGF-Rβ). A recent study identified mutations in PDGFB coding for PDGF-B, the main ligand for PDGF-Rβ, in six families with PFBC. Here we report the first Japanese family with PFBC carrying a mutation in PDGFB, which causes the substitution of an arginine with a stop codon at amino acid 149 of the PDGF-B protein (p. Arg149*).Methods: Clinical histories and computed tomography scan images were provided. Sanger sequencing was performed for the exome analysis of SLC20A2 and PDGFB genes.Results: One family member began to complain of auditory hallucination at 16 years of age and had been treated for schizophrenia. His father suffered from memory and gait disturbances in his late 60s. A computed tomography scan revealed a symmetrical area of calcification over the basal ganglia in both cases. A known mutation in PDGFB (c.445C>T, p.Arg149*) was consistently detected in both PFBC cases by Sanger sequencing. No mutations in SLC20A2 were detected.Conclusions: Our findings suggest that this mutation in PDGF-B is responsible for PFBC in this Japanese family and that abnormal PDGF signaling may be involved in the pathophysiology of certain psychiatric disorders.

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mentioning

confidence: 99%

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study

Hayashi

Legati

Nishikawa

et al. 2014

Psychiatry Clin Neurosci

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“…A female patient who was followed up with a diagnosis of schizophrenia in an outpatient clinic for many years and diagnosed with FS after hospitalization was included in this report. FS includes both neurological and psychiatric symptoms (13,14). Neurological symptoms include Parkinson-like movement disorder, vertigo, epilepsy, syncope, cerebellar ataxia and dementia (15).…”

Section: Discussionmentioning

confidence: 99%

Fahr Syndrome followed for many years with the diagnosis of schizophrenia; A case report

Okumuş¹,

Hocaoğlu²

2019

PBS

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Fahr syndrome (FS) is a rare disorder where bilateral, almost symmetric, calcium and other mineral deposits occur in basal ganglia, cerebellar dentate nucleus and white matter. The clinical pattern is variable and may be associated with neuropsychiatric symptoms, seizures, cerebellar or extrapyramidal dysfunction and dementia. In this study, it was aimed to present FS diagnosed with schizophrenia for many years with misdiagnosis in the context of literature information. FS can sometimes be detected without symptoms. The brain computed tomography (BCT) is the best useful diagnosis method.

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“…Finally, heterozygous loss-of-function variants of PDG-FRB, among other genes, have been associated with primary familial brain calcification (also named idiopathic basal ganglia calcification 4 or Fahr disease, OMIM 615007). This condition features a bilateral calcification of the basal ganglia, and neurological symptoms developing throughout life, including Parkinsonism, impaired cognitive function, migraine, and depression [31].…”

Section: Genetically Related Disorders With and Without Myofibroma Sumentioning

confidence: 99%

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

et al. 2020

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Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and multifocal IM lesions. PDGFRB variants associated with IM constitutively activate PDGFRB kinase activity in the absence of its ligand. Germline variants have lower activating capabilities than somatic variants and, thus, require a second cis-acting hit for full receptor activation. Typically, these mutant receptors remain sensitive to tyrosine kinase inhibitors such as imatinib. The SIOPE Host Genome Working Group, consisting of pediatric oncologists, clinical geneticists and scientists, met in January 2020 to discuss recommendations for genetic testing and surveillance for patients who are diagnosed with IM or have a family history of IM/PDGFRB germline variants. This report provides a brief review of the clinical manifestations and genetics of IM and summarizes our interdisciplinary recommendations.

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Psychosis revealing familial idiopathic basal ganglia calcification

Cited by 15 publications

References 14 publications

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study

Fahr Syndrome followed for many years with the diagnosis of schizophrenia; A case report

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

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